Canonical Allele Identifier: CA354739606
Gene: PCCB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.136261988A>G , CM000665.2:g.136261988A>G GRCh38
NC_000003.11:g.135980830A>G , CM000665.1:g.135980830A>G GRCh37
NC_000003.10:g.137463520A>G NCBI36
NG_008939.1:g.16664A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000251654.9:c.466A>G MANE Select ENSP00000251654.4:p.Ile156Val
ENST00000251654.8:c.466A>G ENSP00000251654.4:p.Ile156Val
ENST00000459873.1:c.217A>G ENSP00000419293.1:p.Ile73Val
ENST00000462542.5:c.333A>G
ENST00000462637.5:c.397A>G ENSP00000420391.1:p.Ile133Val
ENST00000465176.5:n.428A>G
ENST00000465423.5:c.553A>G ENSP00000419263.1:p.Ile185Val
ENST00000466072.5:c.466A>G ENSP00000420158.1:p.Ile156Val
ENST00000468777.5:c.559A>G ENSP00000419129.1:p.Ile187Val
ENST00000469217.5:c.526A>G ENSP00000419027.1:p.Ile176Val
ENST00000471595.5:c.466A>G ENSP00000417549.1:p.Ile156Val
ENST00000473073.1:n.423A>G
ENST00000474833.5:n.168+11430A>G
ENST00000475214.5:n.380A>G
ENST00000478469.5:c.466A>G ENSP00000420759.1:p.Ile156Val
ENST00000482086.5:c.118A>G ENSP00000417253.1:p.Ile40Val
ENST00000483687.5:c.409A>G ENSP00000420639.1:p.Ile137Val
ENST00000484181.5:c.466A>G ENSP00000417937.1:p.Ile156Val
ENST00000490504.5:c.372+5365A>G ENSP00000418307.1:n.372+5365A>G
ENST00000494742.5:c.217A>G ENSP00000418020.1:p.Ile73Val
NM_000532.4:c.466A>G NP_000523.2:p.Ile156Val
NM_001178014.1:c.526A>G NP_001171485.1:p.Ile176Val
XM_011512873.1:c.466A>G XP_011511175.1:p.Ile156Val
XM_011512873.2:c.466A>G XP_011511175.1:p.Ile156Val
NM_000532.5:c.466A>G MANE Select NP_000523.2:p.Ile156Val
NM_001178014.2:c.526A>G NP_001171485.1:p.Ile176Val