Human (GRCh38.p14)
Description

sphingomyelin phosphodiesterase 1 [Source:HGNC Symbol;Acc:HGNC:11120]

Gene Synonyms

ASM

Location

Chromosome 11: 6,390,440-6,394,998 forward strand.

GRCh38:CM000673.2

About this gene

This gene has 10 transcripts (splice variants), 198 orthologues, 2 paralogues and is associated with 5 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000342245.9SMPD1-2012410631aaENSP00000340409.4
 
Protein coding
CCDS44531P17405-1 NM_000543.5MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P3TSL:1
ENST00000527275.5SMPD1-2032188630aaENSP00000435350.1
 
Protein coding
CCDS31409P17405-4 -GENCODE basicAPPRIS ALT2TSL:2
ENST00000526280.1SMPD1-2021344317aaENSP00000436278.1
 
Protein coding
H0YEP5 -TSL:1CDS 5' incomplete
ENST00000530395.1SMPD1-20444752aaENSP00000431479.1
 
Protein coding
E9PL59 -TSL:5CDS 3' incomplete
ENST00000534405.5SMPD1-2102446402aaENSP00000434353.1
 
Nonsense mediated decay
E9PQT3 -TSL:1
ENST00000533123.5SMPD1-2082211366aaENSP00000435950.1
 
Nonsense mediated decay
G3V1E1 -TSL:1
ENST00000531303.5SMPD1-2051451171aaENSP00000432625.1
 
Nonsense mediated decay
E9PPK6 -TSL:1
ENST00000533196.1SMPD1-209425No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000531336.1SMPD1-206650No protein-
 
Retained intron
--TSL:2
ENST00000532367.1SMPD1-207409No protein-
 
Retained intron
--TSL:2