Canonical Allele Identifier: CA354739903

Gene: PCCB

Linked Data

• gnomAD v4: 3-136262030-G-A
• MyVariant Identifiers: chr3:g.135980872G>A (hg19) ; chr3:g.136262030G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136262030G>A , CM000665.2:g.136262030G>A	GRCh38
NC_000003.11:g.135980872G>A , CM000665.1:g.135980872G>A	GRCh37
NC_000003.10:g.137463562G>A	NCBI36
NG_008939.1:g.16706G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.508G>A MANE Select	ENSP00000251654.4:p.Val170Met
ENST00000251654.8:c.508G>A	ENSP00000251654.4:p.Val170Met
ENST00000459873.1:c.259G>A	ENSP00000419293.1:p.Val87Met
ENST00000462542.5:c.375G>A
ENST00000462637.5:c.439G>A	ENSP00000420391.1:p.Val147Met
ENST00000465176.5:n.470G>A
ENST00000466072.5:c.508G>A	ENSP00000420158.1:p.Val170Met
ENST00000468777.5:c.601G>A	ENSP00000419129.1:p.Val201Met
ENST00000469217.5:c.568G>A	ENSP00000419027.1:p.Val190Met
ENST00000471595.5:c.508G>A	ENSP00000417549.1:p.Val170Met
ENST00000473073.1:n.465G>A
ENST00000474833.5:n.168+11472G>A
ENST00000475214.5:n.422G>A
ENST00000478469.5:c.508G>A	ENSP00000420759.1:p.Val170Met
ENST00000482086.5:c.160G>A	ENSP00000417253.1:p.Val54Met
ENST00000483687.5:c.451G>A	ENSP00000420639.1:p.Val151Met
ENST00000484181.5:c.508G>A	ENSP00000417937.1:p.Val170Met
ENST00000490504.5:c.372+5407G>A	ENSP00000418307.1:n.372+5407G>A
NM_000532.4:c.508G>A	NP_000523.2:p.Val170Met
NM_001178014.1:c.568G>A	NP_001171485.1:p.Val190Met
XM_011512873.1:c.508G>A	XP_011511175.1:p.Val170Met
XM_011512873.2:c.508G>A	XP_011511175.1:p.Val170Met
NM_000532.5:c.508G>A MANE Select	NP_000523.2:p.Val170Met
NM_001178014.2:c.568G>A	NP_001171485.1:p.Val190Met