Canonical Allele Identifier: CA278499

Gene: PCCB

Linked Data

• ClinVar Variation Id: 167423
• ClinVar RCV Id: RCV000153647 ; RCV000173704
• dbSNP Id: rs786200983
• ExAC: 3:136035800 A / AT
• gnomAD v2: 3-136035800-A-AT
• gnomAD v3: 3-136316958-A-AT
• gnomAD v4: 3-136316958-A-AT
• MyVariant Identifiers: chr3:g.136035806dup (hg19) ; chr3:g.136035806dupT (hg19) ; chr3:g.136035800_136035801insT (hg19) ; chr3:g.136316964dupT (hg38) ; chr3:g.136316958_136316959insT (hg38)
• PubMed: PMID:12559849 ; PMID:22033733 ; PMID:24059531

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136316964dup , CM000665.2:g.136316964dup	GRCh38
NC_000003.11:g.136035806dup , CM000665.1:g.136035806dup	GRCh37
NC_000003.10:g.137518496dup	NCBI36
NG_008939.1:g.71640dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.990dup MANE Select	ENSP00000251654.4:p.Glu331Ter
ENST00000251654.8:c.990dup	ENSP00000251654.4:p.Glu331Ter
ENST00000462637.5:c.921dup	ENSP00000420391.1:p.Glu308Ter
ENST00000466072.5:c.990dup	ENSP00000420158.1:p.Glu331Ter
ENST00000468777.5:c.1083dup	ENSP00000419129.1:p.Glu362Ter
ENST00000469217.5:c.1050dup	ENSP00000419027.1:p.Glu351Ter
ENST00000471595.5:c.990dup	ENSP00000417549.1:p.Glu331Ter
ENST00000473073.1:n.947dup
ENST00000474833.5:n.615dup
ENST00000475214.5:n.904dup
ENST00000478469.5:c.885-17316dup	ENSP00000420759.1:n.885-17316dup
ENST00000482086.5:c.642dup	ENSP00000417253.1:p.Glu215Ter
ENST00000483687.5:c.933dup	ENSP00000420639.1:p.Glu312Ter
ENST00000484181.5:c.990dup	ENSP00000417937.1:p.Glu331Ter
ENST00000490504.5:c.819dup	ENSP00000418307.1:p.Glu274Ter
NM_000532.4:c.990dup	NP_000523.2:p.Glu331Ter
NM_001178014.1:c.1050dup	NP_001171485.1:p.Glu351Ter
XM_011512873.1:c.990dup	XP_011511175.1:p.Glu331Ter
XM_011512873.2:c.990dup	XP_011511175.1:p.Glu331Ter
NM_000532.5:c.990dup MANE Select	NP_000523.2:p.Glu331Ter
NM_001178014.2:c.1050dup	NP_001171485.1:p.Glu351Ter