Canonical Allele Identifier: CA312831

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136283856G>C , CM000665.2:g.136283856G>C	GRCh38
NC_000003.11:g.136002698G>C , CM000665.1:g.136002698G>C	GRCh37
NC_000003.10:g.137485388G>C	NCBI36
NG_008939.1:g.38532G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.563G>C MANE Select	NP_000523.2:p.Gly188Ala
ENST00000251654.9:c.563G>C MANE Select	ENSP00000251654.4:p.Gly188Ala
NM_000532.4:c.563G>C	NP_000523.2:p.Gly188Ala
NM_001178014.1:c.623G>C	NP_001171485.1:p.Gly208Ala
NM_001178014.2:c.623G>C	NP_001171485.1:p.Gly208Ala
ENST00000251654.8:c.563G>C	ENSP00000251654.4:p.Gly188Ala
ENST00000459873.1:c.314G>C	ENSP00000419293.1:p.Gly105Ala
ENST00000462542.5:c.430G>C
ENST00000462637.5:c.494G>C	ENSP00000420391.1:p.Gly165Ala
ENST00000465176.5:n.525G>C
ENST00000466072.5:c.563G>C	ENSP00000420158.1:p.Gly188Ala
ENST00000468777.5:c.656G>C	ENSP00000419129.1:p.Gly219Ala
ENST00000469217.5:c.623G>C	ENSP00000419027.1:p.Gly208Ala
ENST00000471595.5:c.563G>C	ENSP00000417549.1:p.Gly188Ala
ENST00000473073.1:n.520G>C
ENST00000474833.5:n.188G>C
ENST00000475214.5:n.477G>C
ENST00000478469.5:c.563G>C	ENSP00000420759.1:p.Gly188Ala
ENST00000482086.5:c.215G>C	ENSP00000417253.1:p.Gly72Ala
ENST00000483687.5:c.506G>C	ENSP00000420639.1:p.Gly169Ala
ENST00000484181.5:c.563G>C	ENSP00000417937.1:p.Gly188Ala
ENST00000490504.5:c.392G>C	ENSP00000418307.1:p.Gly131Ala
XM_011512873.1:c.563G>C	XP_011511175.1:p.Gly188Ala
XM_011512873.2:c.563G>C	XP_011511175.1:p.Gly188Ala