Canonical Allele Identifier: CA2631784

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136283855G>A , CM000665.2:g.136283855G>A	GRCh38
NC_000003.11:g.136002697G>A , CM000665.1:g.136002697G>A	GRCh37
NC_000003.10:g.137485387G>A	NCBI36
NG_008939.1:g.38531G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.562G>A MANE Select	NP_000523.2:p.Gly188Arg
ENST00000251654.9:c.562G>A MANE Select	ENSP00000251654.4:p.Gly188Arg
NM_000532.4:c.562G>A	NP_000523.2:p.Gly188Arg
NM_001178014.1:c.622G>A	NP_001171485.1:p.Gly208Arg
NM_001178014.2:c.622G>A	NP_001171485.1:p.Gly208Arg
ENST00000251654.8:c.562G>A	ENSP00000251654.4:p.Gly188Arg
ENST00000459873.1:c.313G>A	ENSP00000419293.1:p.Gly105Arg
ENST00000462542.5:c.429G>A
ENST00000462637.5:c.493G>A	ENSP00000420391.1:p.Gly165Arg
ENST00000465176.5:n.524G>A
ENST00000466072.5:c.562G>A	ENSP00000420158.1:p.Gly188Arg
ENST00000468777.5:c.655G>A	ENSP00000419129.1:p.Gly219Arg
ENST00000469217.5:c.622G>A	ENSP00000419027.1:p.Gly208Arg
ENST00000471595.5:c.562G>A	ENSP00000417549.1:p.Gly188Arg
ENST00000473073.1:n.519G>A
ENST00000474833.5:n.187G>A
ENST00000475214.5:n.476G>A
ENST00000478469.5:c.562G>A	ENSP00000420759.1:p.Gly188Arg
ENST00000482086.5:c.214G>A	ENSP00000417253.1:p.Gly72Arg
ENST00000483687.5:c.505G>A	ENSP00000420639.1:p.Gly169Arg
ENST00000484181.5:c.562G>A	ENSP00000417937.1:p.Gly188Arg
ENST00000490504.5:c.391G>A	ENSP00000418307.1:p.Gly131Arg
XM_011512873.1:c.562G>A	XP_011511175.1:p.Gly188Arg
XM_011512873.2:c.562G>A	XP_011511175.1:p.Gly188Arg