Canonical Allele Identifier: CA354739668

Gene: PCCB

Linked Data

• dbSNP Id: rs1391138838
• gnomAD v2: 3-135980852-G-A
• gnomAD v4: 3-136262010-G-A
• MyVariant Identifiers: chr3:g.135980852G>A (hg19) ; chr3:g.136262010G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136262010G>A , CM000665.2:g.136262010G>A	GRCh38
NC_000003.11:g.135980852G>A , CM000665.1:g.135980852G>A	GRCh37
NC_000003.10:g.137463542G>A	NCBI36
NG_008939.1:g.16686G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.488G>A MANE Select	ENSP00000251654.4:p.Gly163Glu
ENST00000251654.8:c.488G>A	ENSP00000251654.4:p.Gly163Glu
ENST00000459873.1:c.239G>A	ENSP00000419293.1:p.Gly80Glu
ENST00000462542.5:c.355G>A
ENST00000462637.5:c.419G>A	ENSP00000420391.1:p.Gly140Glu
ENST00000465176.5:n.450G>A
ENST00000465423.5:c.575G>A
ENST00000466072.5:c.488G>A	ENSP00000420158.1:p.Gly163Glu
ENST00000468777.5:c.581G>A	ENSP00000419129.1:p.Gly194Glu
ENST00000469217.5:c.548G>A	ENSP00000419027.1:p.Gly183Glu
ENST00000471595.5:c.488G>A	ENSP00000417549.1:p.Gly163Glu
ENST00000473073.1:n.445G>A
ENST00000474833.5:n.168+11452G>A
ENST00000475214.5:n.402G>A
ENST00000478469.5:c.488G>A	ENSP00000420759.1:p.Gly163Glu
ENST00000482086.5:c.140G>A	ENSP00000417253.1:p.Gly47Glu
ENST00000483687.5:c.431G>A	ENSP00000420639.1:p.Gly144Glu
ENST00000484181.5:c.488G>A	ENSP00000417937.1:p.Gly163Glu
ENST00000490504.5:c.372+5387G>A	ENSP00000418307.1:n.372+5387G>A
ENST00000494742.5:c.239G>A	ENSP00000418020.1:p.Gly80Glu
NM_000532.4:c.488G>A	NP_000523.2:p.Gly163Glu
NM_001178014.1:c.548G>A	NP_001171485.1:p.Gly183Glu
XM_011512873.1:c.488G>A	XP_011511175.1:p.Gly163Glu
XM_011512873.2:c.488G>A	XP_011511175.1:p.Gly163Glu
NM_000532.5:c.488G>A MANE Select	NP_000523.2:p.Gly163Glu
NM_001178014.2:c.548G>A	NP_001171485.1:p.Gly183Glu