Canonical Allele Identifier: CA84266989

Gene: PCCB

Linked Data

• dbSNP Id: rs867341154
• gnomAD v4: 3-136261986-T-G
• MyVariant Identifiers: chr3:g.135980828T>G (hg19) ; chr3:g.136261986T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136261986T>G , CM000665.2:g.136261986T>G	GRCh38
NC_000003.11:g.135980828T>G , CM000665.1:g.135980828T>G	GRCh37
NC_000003.10:g.137463518T>G	NCBI36
NG_008939.1:g.16662T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.464T>G MANE Select	ENSP00000251654.4:p.Val155Gly
ENST00000251654.8:c.464T>G	ENSP00000251654.4:p.Val155Gly
ENST00000459873.1:c.215T>G	ENSP00000419293.1:p.Val72Gly
ENST00000462542.5:c.331T>G
ENST00000462637.5:c.395T>G	ENSP00000420391.1:p.Val132Gly
ENST00000465176.5:n.426T>G
ENST00000465423.5:c.551T>G	ENSP00000419263.1:p.Val184Gly
ENST00000466072.5:c.464T>G	ENSP00000420158.1:p.Val155Gly
ENST00000468777.5:c.557T>G	ENSP00000419129.1:p.Val186Gly
ENST00000469217.5:c.524T>G	ENSP00000419027.1:p.Val175Gly
ENST00000471595.5:c.464T>G	ENSP00000417549.1:p.Val155Gly
ENST00000473073.1:n.421T>G
ENST00000474833.5:n.168+11428T>G
ENST00000475214.5:n.378T>G
ENST00000478469.5:c.464T>G	ENSP00000420759.1:p.Val155Gly
ENST00000482086.5:c.116T>G	ENSP00000417253.1:p.Val39Gly
ENST00000483687.5:c.407T>G	ENSP00000420639.1:p.Val136Gly
ENST00000484181.5:c.464T>G	ENSP00000417937.1:p.Val155Gly
ENST00000490504.5:c.372+5363T>G	ENSP00000418307.1:n.372+5363T>G
ENST00000494742.5:c.215T>G	ENSP00000418020.1:p.Val72Gly
NM_000532.4:c.464T>G	NP_000523.2:p.Val155Gly
NM_001178014.1:c.524T>G	NP_001171485.1:p.Val175Gly
XM_011512873.1:c.464T>G	XP_011511175.1:p.Val155Gly
XM_011512873.2:c.464T>G	XP_011511175.1:p.Val155Gly
NM_000532.5:c.464T>G MANE Select	NP_000523.2:p.Val155Gly
NM_001178014.2:c.524T>G	NP_001171485.1:p.Val175Gly