Human (GRCh38.p14)
Description

PKHD1 ciliary IPT domain containing fibrocystin/polyductin [Source:HGNC Symbol;Acc:HGNC:9016]

Gene Synonyms

ARPKD, FCYT, FPC, TIGM1

Location

Chromosome 6: 51,615,299-52,087,613 reverse strand.

GRCh38:CM000668.2

About this gene

This gene has 2 transcripts (splice variants), 119 orthologues, 36 paralogues and is associated with 4 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000371117.8PKHD1-202162714074aaENSP00000360158.3
 
Protein coding
CCDS4935P08F94-1 NM_138694.4MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P2TSL:1
ENST00000340994.4PKHD1-201115893396aaENSP00000341097.4
 
Protein coding
CCDS4936P08F94-2 -GENCODE basicAPPRIS ALT2TSL:5