Canonical Allele Identifier: CA2631759
Gene: PCCB HGNC NCBI

Linked Data

dbSNP Id: rs780898837

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.136262007G>A , CM000665.2:g.136262007G>A GRCh38
NC_000003.11:g.135980849G>A , CM000665.1:g.135980849G>A GRCh37
NC_000003.10:g.137463539G>A NCBI36
NG_008939.1:g.16683G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251654.9:c.485G>A MANE Select ENSP00000251654.4:p.Gly162Glu
ENST00000251654.8:c.485G>A ENSP00000251654.4:p.Gly162Glu
ENST00000459873.1:c.236G>A ENSP00000419293.1:p.Gly79Glu
ENST00000462542.5:c.352G>A
ENST00000462637.5:c.416G>A ENSP00000420391.1:p.Gly139Glu
ENST00000465176.5:n.447G>A
ENST00000465423.5:c.572G>A ENSP00000419263.1:p.Gly191Glu
ENST00000466072.5:c.485G>A ENSP00000420158.1:p.Gly162Glu
ENST00000468777.5:c.578G>A ENSP00000419129.1:p.Gly193Glu
ENST00000469217.5:c.545G>A ENSP00000419027.1:p.Gly182Glu
ENST00000471595.5:c.485G>A ENSP00000417549.1:p.Gly162Glu
ENST00000473073.1:n.442G>A
ENST00000474833.5:n.168+11449G>A
ENST00000475214.5:n.399G>A
ENST00000478469.5:c.485G>A ENSP00000420759.1:p.Gly162Glu
ENST00000482086.5:c.137G>A ENSP00000417253.1:p.Gly46Glu
ENST00000483687.5:c.428G>A ENSP00000420639.1:p.Gly143Glu
ENST00000484181.5:c.485G>A ENSP00000417937.1:p.Gly162Glu
ENST00000490504.5:c.372+5384G>A ENSP00000418307.1:n.372+5384G>A
ENST00000494742.5:c.236G>A ENSP00000418020.1:p.Gly79Glu
NM_000532.4:c.485G>A NP_000523.2:p.Gly162Glu
NM_001178014.1:c.545G>A NP_001171485.1:p.Gly182Glu
XM_011512873.1:c.485G>A XP_011511175.1:p.Gly162Glu
XM_011512873.2:c.485G>A XP_011511175.1:p.Gly162Glu
NM_000532.5:c.485G>A MANE Select NP_000523.2:p.Gly162Glu
NM_001178014.2:c.545G>A NP_001171485.1:p.Gly182Glu