Canonical Allele Identifier: CA312824

Gene: PCCB

Linked Data

• ClinVar Variation Id: 203883
• ClinVar RCV Id: RCV000186089 ; RCV000441240 ; RCV001083724 ; RCV003917704
• dbSNP Id: rs200185747
• ExAC: 3:135969266 C / A
• gnomAD v2: 3-135969266-C-A
• gnomAD v3: 3-136250424-C-A
• gnomAD v4: 3-136250424-C-A
• COSMIC: COSM1581383
• MyVariant Identifiers: chr3:g.135969266C>A (hg19) ; chr3:g.136250424C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136250424C>A , CM000665.2:g.136250424C>A	GRCh38
NC_000003.11:g.135969266C>A , CM000665.1:g.135969266C>A	GRCh37
NC_000003.10:g.137451956C>A	NCBI36
NG_008939.1:g.5100C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.49C>A MANE Select	ENSP00000251654.4:p.Leu17Met
ENST00000251654.8:c.49C>A	ENSP00000251654.4:p.Leu17Met
ENST00000462637.5:c.49C>A	ENSP00000420391.1:p.Leu17Met
ENST00000465423.5:c.49C>A	ENSP00000419263.1:p.Leu17Met
ENST00000466072.5:c.49C>A	ENSP00000420158.1:p.Leu17Met
ENST00000468777.5:c.49C>A	ENSP00000419129.1:p.Leu17Met
ENST00000469217.5:c.49C>A	ENSP00000419027.1:p.Leu17Met
ENST00000471595.5:c.49C>A	ENSP00000417549.1:p.Leu17Met
ENST00000474833.5:n.34C>A
ENST00000478469.5:c.49C>A	ENSP00000420759.1:p.Leu17Met
ENST00000482086.5:c.49C>A	ENSP00000417253.1:p.Leu17Met
ENST00000483687.5:c.49C>A	ENSP00000420639.1:p.Leu17Met
ENST00000484181.5:c.49C>A	ENSP00000417937.1:p.Leu17Met
ENST00000490504.5:c.49C>A	ENSP00000418307.1:p.Leu17Met
NM_000532.4:c.49C>A	NP_000523.2:p.Leu17Met
NM_001178014.1:c.49C>A	NP_001171485.1:p.Leu17Met
XM_011512873.1:c.49C>A	XP_011511175.1:p.Leu17Met
XM_011512873.2:c.49C>A	XP_011511175.1:p.Leu17Met
NM_000532.5:c.49C>A MANE Select	NP_000523.2:p.Leu17Met
NM_001178014.2:c.49C>A	NP_001171485.1:p.Leu17Met