Canonical Allele Identifier: CA354649288

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136327644G>A , CM000665.2:g.136327644G>A	GRCh38
NC_000003.11:g.136046486G>A , CM000665.1:g.136046486G>A	GRCh37
NC_000003.10:g.137529176G>A	NCBI36
NG_008939.1:g.82320G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.1310G>A MANE Select	NP_000523.2:p.Gly437Asp
ENST00000251654.9:c.1310G>A MANE Select	ENSP00000251654.4:p.Gly437Asp
NM_000532.4:c.1310G>A	NP_000523.2:p.Gly437Asp
NM_001178014.1:c.1370G>A	NP_001171485.1:p.Gly457Asp
NM_001178014.2:c.1370G>A	NP_001171485.1:p.Gly457Asp
ENST00000251654.8:c.1310G>A	ENSP00000251654.4:p.Gly437Asp
ENST00000462637.5:c.1241G>A	ENSP00000420391.1:p.Gly414Asp
ENST00000466072.5:c.1370G>A	ENSP00000420158.1:p.Gly457Asp
ENST00000468777.5:c.1403G>A	ENSP00000419129.1:p.Gly468Asp
ENST00000469217.5:c.1370G>A	ENSP00000419027.1:p.Gly457Asp
ENST00000471595.5:c.1310G>A	ENSP00000417549.1:p.Gly437Asp
ENST00000473073.1:n.1511G>A
ENST00000474833.5:n.834G>A
ENST00000478469.5:c.885-6636G>A	ENSP00000420759.1:n.885-6636G>A
ENST00000482086.5:c.962G>A	ENSP00000417253.1:p.Gly321Asp
ENST00000483687.5:c.1253G>A	ENSP00000420639.1:p.Gly418Asp
ENST00000484181.5:c.1209G>A	ENSP00000417937.1:p.Arg403=
ENST00000490504.5:c.1139G>A	ENSP00000418307.1:p.Gly380Asp