Canonical Allele Identifier: CA354643686

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136293838G>A , CM000665.2:g.136293838G>A	GRCh38
NC_000003.11:g.136012680G>A , CM000665.1:g.136012680G>A	GRCh37
NC_000003.10:g.137495370G>A	NCBI36
NG_008939.1:g.48514G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.737G>A MANE Select	NP_000523.2:p.Gly246Asp
ENST00000251654.9:c.737G>A MANE Select	ENSP00000251654.4:p.Gly246Asp
NM_000532.4:c.737G>A	NP_000523.2:p.Gly246Asp
NM_001178014.1:c.797G>A	NP_001171485.1:p.Gly266Asp
NM_001178014.2:c.797G>A	NP_001171485.1:p.Gly266Asp
ENST00000251654.8:c.737G>A	ENSP00000251654.4:p.Gly246Asp
ENST00000462637.5:c.668G>A	ENSP00000420391.1:p.Gly223Asp
ENST00000466072.5:c.737G>A	ENSP00000420158.1:p.Gly246Asp
ENST00000468777.5:c.830G>A	ENSP00000419129.1:p.Gly277Asp
ENST00000469217.5:c.797G>A	ENSP00000419027.1:p.Gly266Asp
ENST00000471595.5:c.737G>A	ENSP00000417549.1:p.Gly246Asp
ENST00000473073.1:n.694G>A
ENST00000474833.5:n.362G>A
ENST00000475214.5:n.651G>A
ENST00000478469.5:c.737G>A	ENSP00000420759.1:p.Gly246Asp
ENST00000482086.5:c.389G>A	ENSP00000417253.1:p.Gly130Asp
ENST00000483687.5:c.680G>A	ENSP00000420639.1:p.Gly227Asp
ENST00000484181.5:c.737G>A	ENSP00000417937.1:p.Gly246Asp
ENST00000490504.5:c.566G>A	ENSP00000418307.1:p.Gly189Asp
XM_011512873.1:c.737G>A	XP_011511175.1:p.Gly246Asp
XM_011512873.2:c.737G>A	XP_011511175.1:p.Gly246Asp