Canonical Allele Identifier: CA354739595
Gene: PCCB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.136261983C>G , CM000665.2:g.136261983C>G GRCh38
NC_000003.11:g.135980825C>G , CM000665.1:g.135980825C>G GRCh37
NC_000003.10:g.137463515C>G NCBI36
NG_008939.1:g.16659C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000251654.9:c.461C>G MANE Select ENSP00000251654.4:p.Pro154Arg
ENST00000251654.8:c.461C>G ENSP00000251654.4:p.Pro154Arg
ENST00000459873.1:c.212C>G ENSP00000419293.1:p.Pro71Arg
ENST00000462542.5:c.328C>G
ENST00000462637.5:c.392C>G ENSP00000420391.1:p.Pro131Arg
ENST00000465176.5:n.423C>G
ENST00000465423.5:c.548C>G ENSP00000419263.1:p.Pro183Arg
ENST00000466072.5:c.461C>G ENSP00000420158.1:p.Pro154Arg
ENST00000468777.5:c.554C>G ENSP00000419129.1:p.Pro185Arg
ENST00000469217.5:c.521C>G ENSP00000419027.1:p.Pro174Arg
ENST00000471595.5:c.461C>G ENSP00000417549.1:p.Pro154Arg
ENST00000473073.1:n.418C>G
ENST00000474833.5:n.168+11425C>G
ENST00000475214.5:n.375C>G
ENST00000478469.5:c.461C>G ENSP00000420759.1:p.Pro154Arg
ENST00000482086.5:c.113C>G ENSP00000417253.1:p.Pro38Arg
ENST00000483687.5:c.404C>G ENSP00000420639.1:p.Pro135Arg
ENST00000484181.5:c.461C>G ENSP00000417937.1:p.Pro154Arg
ENST00000490504.5:c.372+5360C>G ENSP00000418307.1:n.372+5360C>G
ENST00000494742.5:c.212C>G ENSP00000418020.1:p.Pro71Arg
NM_000532.4:c.461C>G NP_000523.2:p.Pro154Arg
NM_001178014.1:c.521C>G NP_001171485.1:p.Pro174Arg
XM_011512873.1:c.461C>G XP_011511175.1:p.Pro154Arg
XM_011512873.2:c.461C>G XP_011511175.1:p.Pro154Arg
NM_000532.5:c.461C>G MANE Select NP_000523.2:p.Pro154Arg
NM_001178014.2:c.521C>G NP_001171485.1:p.Pro174Arg