Canonical Allele Identifier: CA354643739

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136293864G>A , CM000665.2:g.136293864G>A	GRCh38
NC_000003.11:g.136012706G>A , CM000665.1:g.136012706G>A	GRCh37
NC_000003.10:g.137495396G>A	NCBI36
NG_008939.1:g.48540G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.763G>A MANE Select	NP_000523.2:p.Gly255Ser
ENST00000251654.9:c.763G>A MANE Select	ENSP00000251654.4:p.Gly255Ser
NM_000532.4:c.763G>A	NP_000523.2:p.Gly255Ser
NM_001178014.1:c.823G>A	NP_001171485.1:p.Gly275Ser
NM_001178014.2:c.823G>A	NP_001171485.1:p.Gly275Ser
ENST00000251654.8:c.763G>A	ENSP00000251654.4:p.Gly255Ser
ENST00000462637.5:c.694G>A	ENSP00000420391.1:p.Gly232Ser
ENST00000466072.5:c.763G>A	ENSP00000420158.1:p.Gly255Ser
ENST00000468777.5:c.856G>A	ENSP00000419129.1:p.Gly286Ser
ENST00000469217.5:c.823G>A	ENSP00000419027.1:p.Gly275Ser
ENST00000471595.5:c.763G>A	ENSP00000417549.1:p.Gly255Ser
ENST00000473073.1:n.720G>A
ENST00000474833.5:n.388G>A
ENST00000475214.5:n.677G>A
ENST00000478469.5:c.763G>A	ENSP00000420759.1:p.Gly255Ser
ENST00000482086.5:c.415G>A	ENSP00000417253.1:p.Gly139Ser
ENST00000483687.5:c.706G>A	ENSP00000420639.1:p.Gly236Ser
ENST00000484181.5:c.763G>A	ENSP00000417937.1:p.Gly255Ser
ENST00000490504.5:c.592G>A	ENSP00000418307.1:p.Gly198Ser
XM_011512873.1:c.763G>A	XP_011511175.1:p.Gly255Ser
XM_011512873.2:c.763G>A	XP_011511175.1:p.Gly255Ser