Canonical Allele Identifier: CA2632149

Gene: PCCB

Linked Data

• ClinVar Variation Id: 225429
• ClinVar RCV Id: RCV000490483
• dbSNP Id: rs769521436
• ExAC: 3:136046492 A / G
• gnomAD v2: 3-136046492-A-G
• gnomAD v3: 3-136327650-A-G
• gnomAD v4: 3-136327650-A-G
• MyVariant Identifiers: chr3:g.136046492A>G (hg19) ; chr3:g.136327650A>G (hg38)
• PubMed: PMID:12189489 ; PMID:12409268

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136327650A>G , CM000665.2:g.136327650A>G	GRCh38
NC_000003.11:g.136046492A>G , CM000665.1:g.136046492A>G	GRCh37
NC_000003.10:g.137529182A>G	NCBI36
NG_008939.1:g.82326A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.1316A>G MANE Select	ENSP00000251654.4:p.Tyr439Cys
ENST00000251654.8:c.1316A>G	ENSP00000251654.4:p.Tyr439Cys
ENST00000462637.5:c.1247A>G	ENSP00000420391.1:p.Tyr416Cys
ENST00000466072.5:c.1376A>G	ENSP00000420158.1:p.Tyr459Cys
ENST00000468777.5:c.1409A>G	ENSP00000419129.1:p.Tyr470Cys
ENST00000469217.5:c.1376A>G	ENSP00000419027.1:p.Tyr459Cys
ENST00000471595.5:c.1316A>G	ENSP00000417549.1:p.Tyr439Cys
ENST00000473073.1:n.1517A>G
ENST00000474833.5:n.840A>G
ENST00000478469.5:c.885-6630A>G	ENSP00000420759.1:n.885-6630A>G
ENST00000482086.5:c.968A>G	ENSP00000417253.1:p.Tyr323Cys
ENST00000483687.5:c.1259A>G	ENSP00000420639.1:p.Tyr420Cys
ENST00000484181.5:c.1215A>G	ENSP00000417937.1:p.Leu405=
ENST00000490504.5:c.1145A>G	ENSP00000418307.1:p.Tyr382Cys
NM_000532.4:c.1316A>G	NP_000523.2:p.Tyr439Cys
NM_001178014.1:c.1376A>G	NP_001171485.1:p.Tyr459Cys
NM_000532.5:c.1316A>G MANE Select	NP_000523.2:p.Tyr439Cys
NM_001178014.2:c.1376A>G	NP_001171485.1:p.Tyr459Cys