Canonical Allele Identifier: CA354739636

Gene: PCCB

Linked Data

• dbSNP Id: rs1181672332
• gnomAD v2: 3-135980840-A-G
• gnomAD v4: 3-136261998-A-G
• MyVariant Identifiers: chr3:g.135980840A>G (hg19) ; chr3:g.136261998A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136261998A>G , CM000665.2:g.136261998A>G	GRCh38
NC_000003.11:g.135980840A>G , CM000665.1:g.135980840A>G	GRCh37
NC_000003.10:g.137463530A>G	NCBI36
NG_008939.1:g.16674A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.476A>G MANE Select	ENSP00000251654.4:p.Asn159Ser
ENST00000251654.8:c.476A>G	ENSP00000251654.4:p.Asn159Ser
ENST00000459873.1:c.227A>G	ENSP00000419293.1:p.Asn76Ser
ENST00000462542.5:c.343A>G
ENST00000462637.5:c.407A>G	ENSP00000420391.1:p.Asn136Ser
ENST00000465176.5:n.438A>G
ENST00000465423.5:c.563A>G	ENSP00000419263.1:p.Asn188Ser
ENST00000466072.5:c.476A>G	ENSP00000420158.1:p.Asn159Ser
ENST00000468777.5:c.569A>G	ENSP00000419129.1:p.Asn190Ser
ENST00000469217.5:c.536A>G	ENSP00000419027.1:p.Asn179Ser
ENST00000471595.5:c.476A>G	ENSP00000417549.1:p.Asn159Ser
ENST00000473073.1:n.433A>G
ENST00000474833.5:n.168+11440A>G
ENST00000475214.5:n.390A>G
ENST00000478469.5:c.476A>G	ENSP00000420759.1:p.Asn159Ser
ENST00000482086.5:c.128A>G	ENSP00000417253.1:p.Asn43Ser
ENST00000483687.5:c.419A>G	ENSP00000420639.1:p.Asn140Ser
ENST00000484181.5:c.476A>G	ENSP00000417937.1:p.Asn159Ser
ENST00000490504.5:c.372+5375A>G	ENSP00000418307.1:n.372+5375A>G
ENST00000494742.5:c.227A>G	ENSP00000418020.1:p.Asn76Ser
NM_000532.4:c.476A>G	NP_000523.2:p.Asn159Ser
NM_001178014.1:c.536A>G	NP_001171485.1:p.Asn179Ser
XM_011512873.1:c.476A>G	XP_011511175.1:p.Asn159Ser
XM_011512873.2:c.476A>G	XP_011511175.1:p.Asn159Ser
NM_000532.5:c.476A>G MANE Select	NP_000523.2:p.Asn159Ser
NM_001178014.2:c.536A>G	NP_001171485.1:p.Asn179Ser