Canonical Allele Identifier: CA354739598

Gene: PCCB

Linked Data

• dbSNP Id: rs1192217930
• gnomAD v2: 3-135980827-G-A
• gnomAD v4: 3-136261985-G-A
• MyVariant Identifiers: chr3:g.135980827G>A (hg19) ; chr3:g.136261985G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136261985G>A , CM000665.2:g.136261985G>A	GRCh38
NC_000003.11:g.135980827G>A , CM000665.1:g.135980827G>A	GRCh37
NC_000003.10:g.137463517G>A	NCBI36
NG_008939.1:g.16661G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.463G>A MANE Select	ENSP00000251654.4:p.Val155Met
ENST00000251654.8:c.463G>A	ENSP00000251654.4:p.Val155Met
ENST00000459873.1:c.214G>A	ENSP00000419293.1:p.Val72Met
ENST00000462542.5:c.330G>A
ENST00000462637.5:c.394G>A	ENSP00000420391.1:p.Val132Met
ENST00000465176.5:n.425G>A
ENST00000465423.5:c.550G>A	ENSP00000419263.1:p.Val184Met
ENST00000466072.5:c.463G>A	ENSP00000420158.1:p.Val155Met
ENST00000468777.5:c.556G>A	ENSP00000419129.1:p.Val186Met
ENST00000469217.5:c.523G>A	ENSP00000419027.1:p.Val175Met
ENST00000471595.5:c.463G>A	ENSP00000417549.1:p.Val155Met
ENST00000473073.1:n.420G>A
ENST00000474833.5:n.168+11427G>A
ENST00000475214.5:n.377G>A
ENST00000478469.5:c.463G>A	ENSP00000420759.1:p.Val155Met
ENST00000482086.5:c.115G>A	ENSP00000417253.1:p.Val39Met
ENST00000483687.5:c.406G>A	ENSP00000420639.1:p.Val136Met
ENST00000484181.5:c.463G>A	ENSP00000417937.1:p.Val155Met
ENST00000490504.5:c.372+5362G>A	ENSP00000418307.1:n.372+5362G>A
ENST00000494742.5:c.214G>A	ENSP00000418020.1:p.Val72Met
NM_000532.4:c.463G>A	NP_000523.2:p.Val155Met
NM_001178014.1:c.523G>A	NP_001171485.1:p.Val175Met
XM_011512873.1:c.463G>A	XP_011511175.1:p.Val155Met
XM_011512873.2:c.463G>A	XP_011511175.1:p.Val155Met
NM_000532.5:c.463G>A MANE Select	NP_000523.2:p.Val155Met
NM_001178014.2:c.523G>A	NP_001171485.1:p.Val175Met