Canonical Allele Identifier: CA435957493

Gene: PCCB

Linked Data

• ClinVar Variation Id: 2845915
• ClinVar RCV Id: RCV003625756
• dbSNP Id: rs1233920827
• gnomAD v3: 3-136262047-C-A
• gnomAD v4: 3-136262047-C-A
• MyVariant Identifiers: chr3:g.135980889C>A (hg19) ; chr3:g.136262047C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136262047C>A , CM000665.2:g.136262047C>A	GRCh38
NC_000003.11:g.135980889C>A , CM000665.1:g.135980889C>A	GRCh37
NC_000003.10:g.137463579C>A	NCBI36
NG_008939.1:g.16723C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.525C>A MANE Select	ENSP00000251654.4:p.Gly175=
ENST00000251654.8:c.525C>A	ENSP00000251654.4:p.Gly175=
ENST00000459873.1:c.276C>A	ENSP00000419293.1:p.Gly92=
ENST00000462542.5:c.392C>A
ENST00000462637.5:c.456C>A	ENSP00000420391.1:p.Gly152=
ENST00000465176.5:n.487C>A
ENST00000466072.5:c.525C>A	ENSP00000420158.1:p.Gly175=
ENST00000468777.5:c.618C>A	ENSP00000419129.1:p.Gly206=
ENST00000469217.5:c.585C>A	ENSP00000419027.1:p.Gly195=
ENST00000471595.5:c.525C>A	ENSP00000417549.1:p.Gly175=
ENST00000473073.1:n.482C>A
ENST00000474833.5:n.168+11489C>A
ENST00000475214.5:n.439C>A
ENST00000478469.5:c.525C>A	ENSP00000420759.1:p.Gly175=
ENST00000482086.5:c.177C>A	ENSP00000417253.1:p.Gly59=
ENST00000483687.5:c.468C>A	ENSP00000420639.1:p.Gly156=
ENST00000484181.5:c.525C>A	ENSP00000417937.1:p.Gly175=
ENST00000490504.5:c.372+5424C>A	ENSP00000418307.1:n.372+5424C>A
NM_000532.4:c.525C>A	NP_000523.2:p.Gly175=
NM_001178014.1:c.585C>A	NP_001171485.1:p.Gly195=
XM_011512873.1:c.525C>A	XP_011511175.1:p.Gly175=
XM_011512873.2:c.525C>A	XP_011511175.1:p.Gly175=
NM_000532.5:c.525C>A MANE Select	NP_000523.2:p.Gly175=
NM_001178014.2:c.585C>A	NP_001171485.1:p.Gly195=