Canonical Allele Identifier: CA435957438

Gene: PCCB

Linked Data

• ClinVar Variation Id: 2706432
• ClinVar RCV Id: RCV003512947
• dbSNP Id: rs1941840484
• gnomAD v4: 3-136261984-A-G
• MyVariant Identifiers: chr3:g.135980826A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136261984A>G , CM000665.2:g.136261984A>G	GRCh38
NC_000003.11:g.135980826A>G , CM000665.1:g.135980826A>G	GRCh37
NC_000003.10:g.137463516A>G	NCBI36
NG_008939.1:g.16660A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.462A>G MANE Select	ENSP00000251654.4:p.Pro154=
ENST00000251654.8:c.462A>G	ENSP00000251654.4:p.Pro154=
ENST00000459873.1:c.213A>G	ENSP00000419293.1:p.Pro71=
ENST00000462542.5:c.329A>G
ENST00000462637.5:c.393A>G	ENSP00000420391.1:p.Pro131=
ENST00000465176.5:n.424A>G
ENST00000465423.5:c.549A>G	ENSP00000419263.1:p.Pro183=
ENST00000466072.5:c.462A>G	ENSP00000420158.1:p.Pro154=
ENST00000468777.5:c.555A>G	ENSP00000419129.1:p.Pro185=
ENST00000469217.5:c.522A>G	ENSP00000419027.1:p.Pro174=
ENST00000471595.5:c.462A>G	ENSP00000417549.1:p.Pro154=
ENST00000473073.1:n.419A>G
ENST00000474833.5:n.168+11426A>G
ENST00000475214.5:n.376A>G
ENST00000478469.5:c.462A>G	ENSP00000420759.1:p.Pro154=
ENST00000482086.5:c.114A>G	ENSP00000417253.1:p.Pro38=
ENST00000483687.5:c.405A>G	ENSP00000420639.1:p.Pro135=
ENST00000484181.5:c.462A>G	ENSP00000417937.1:p.Pro154=
ENST00000490504.5:c.372+5361A>G	ENSP00000418307.1:n.372+5361A>G
ENST00000494742.5:c.213A>G	ENSP00000418020.1:p.Pro71=
NM_000532.4:c.462A>G	NP_000523.2:p.Pro154=
NM_001178014.1:c.522A>G	NP_001171485.1:p.Pro174=
XM_011512873.1:c.462A>G	XP_011511175.1:p.Pro154=
XM_011512873.2:c.462A>G	XP_011511175.1:p.Pro154=
NM_000532.5:c.462A>G MANE Select	NP_000523.2:p.Pro154=
NM_001178014.2:c.522A>G	NP_001171485.1:p.Pro174=