Canonical Allele Identifier: CA354739967
Gene: PCCB HGNC NCBI

Linked Data

ClinVar Variation Id: 2154348
ClinVar RCV Id: RCV003081740
dbSNP Id: rs1248950807

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.136262049A>G , CM000665.2:g.136262049A>G GRCh38
NC_000003.11:g.135980891A>G , CM000665.1:g.135980891A>G GRCh37
NC_000003.10:g.137463581A>G NCBI36
NG_008939.1:g.16725A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000251654.9:c.527A>G MANE Select ENSP00000251654.4:p.Tyr176Cys
ENST00000251654.8:c.527A>G ENSP00000251654.4:p.Tyr176Cys
ENST00000459873.1:c.278A>G ENSP00000419293.1:p.Tyr93Cys
ENST00000462542.5:c.394A>G
ENST00000462637.5:c.458A>G ENSP00000420391.1:p.Tyr153Cys
ENST00000465176.5:n.489A>G
ENST00000466072.5:c.527A>G ENSP00000420158.1:p.Tyr176Cys
ENST00000468777.5:c.620A>G ENSP00000419129.1:p.Tyr207Cys
ENST00000469217.5:c.587A>G ENSP00000419027.1:p.Tyr196Cys
ENST00000471595.5:c.527A>G ENSP00000417549.1:p.Tyr176Cys
ENST00000473073.1:n.484A>G
ENST00000474833.5:n.168+11491A>G
ENST00000475214.5:n.441A>G
ENST00000478469.5:c.527A>G ENSP00000420759.1:p.Tyr176Cys
ENST00000482086.5:c.179A>G ENSP00000417253.1:p.Tyr60Cys
ENST00000483687.5:c.470A>G ENSP00000420639.1:p.Tyr157Cys
ENST00000484181.5:c.527A>G ENSP00000417937.1:p.Tyr176Cys
ENST00000490504.5:c.372+5426A>G ENSP00000418307.1:n.372+5426A>G
NM_000532.4:c.527A>G NP_000523.2:p.Tyr176Cys
NM_001178014.1:c.587A>G NP_001171485.1:p.Tyr196Cys
XM_011512873.1:c.527A>G XP_011511175.1:p.Tyr176Cys
XM_011512873.2:c.527A>G XP_011511175.1:p.Tyr176Cys
NM_000532.5:c.527A>G MANE Select NP_000523.2:p.Tyr176Cys
NM_001178014.2:c.587A>G NP_001171485.1:p.Tyr196Cys