Canonical Allele Identifier: CA354739585
Gene: PCCB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.136261977G>T , CM000665.2:g.136261977G>T GRCh38
NC_000003.11:g.135980819G>T , CM000665.1:g.135980819G>T GRCh37
NC_000003.10:g.137463509G>T NCBI36
NG_008939.1:g.16653G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000251654.9:c.455G>T MANE Select ENSP00000251654.4:p.Gly152Val
ENST00000251654.8:c.455G>T ENSP00000251654.4:p.Gly152Val
ENST00000459873.1:c.206G>T ENSP00000419293.1:p.Gly69Val
ENST00000462542.5:c.322G>T
ENST00000462637.5:c.386G>T ENSP00000420391.1:p.Gly129Val
ENST00000465176.5:n.417G>T
ENST00000465423.5:c.542G>T ENSP00000419263.1:p.Gly181Val
ENST00000466072.5:c.455G>T ENSP00000420158.1:p.Gly152Val
ENST00000468777.5:c.548G>T ENSP00000419129.1:p.Gly183Val
ENST00000469217.5:c.515G>T ENSP00000419027.1:p.Gly172Val
ENST00000471595.5:c.455G>T ENSP00000417549.1:p.Gly152Val
ENST00000473073.1:n.412G>T
ENST00000474833.5:n.168+11419G>T
ENST00000475214.5:n.369G>T
ENST00000478469.5:c.455G>T ENSP00000420759.1:p.Gly152Val
ENST00000482086.5:c.107G>T ENSP00000417253.1:p.Gly36Val
ENST00000483687.5:c.398G>T ENSP00000420639.1:p.Gly133Val
ENST00000484181.5:c.455G>T ENSP00000417937.1:p.Gly152Val
ENST00000490504.5:c.372+5354G>T ENSP00000418307.1:n.372+5354G>T
ENST00000494742.5:c.206G>T ENSP00000418020.1:p.Gly69Val
NM_000532.4:c.455G>T NP_000523.2:p.Gly152Val
NM_001178014.1:c.515G>T NP_001171485.1:p.Gly172Val
XM_011512873.1:c.455G>T XP_011511175.1:p.Gly152Val
XM_011512873.2:c.455G>T XP_011511175.1:p.Gly152Val
NM_000532.5:c.455G>T MANE Select NP_000523.2:p.Gly152Val
NM_001178014.2:c.515G>T NP_001171485.1:p.Gly172Val