Canonical Allele Identifier: CA2632236

Gene: PCCB

Linked Data

• ClinVar Variation Id: 702785
• ClinVar RCV Id: RCV000872035
• dbSNP Id: rs577625696
• ExAC: 3:136048789 G / A
• gnomAD v2: 3-136048789-G-A
• gnomAD v3: 3-136329947-G-A
• gnomAD v4: 3-136329947-G-A
• MyVariant Identifiers: chr3:g.136048789G>A (hg19) ; chr3:g.136329947G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136329947G>A , CM000665.2:g.136329947G>A	GRCh38
NC_000003.11:g.136048789G>A , CM000665.1:g.136048789G>A	GRCh37
NC_000003.10:g.137531479G>A	NCBI36
NG_008939.1:g.84623G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.1541G>A MANE Select	ENSP00000251654.4:p.Arg514Gln
ENST00000251654.8:c.1541G>A	ENSP00000251654.4:p.Arg514Gln
ENST00000462637.5:c.1472G>A	ENSP00000420391.1:p.Arg491Gln
ENST00000466072.5:c.1601G>A	ENSP00000420158.1:p.Arg534Gln
ENST00000468777.5:c.1634G>A	ENSP00000419129.1:p.Arg545Gln
ENST00000469217.5:c.1601G>A	ENSP00000419027.1:p.Arg534Gln
ENST00000471595.5:c.1541G>A	ENSP00000417549.1:p.Arg514Gln
ENST00000473073.1:n.1742G>A
ENST00000478469.5:c.885-4333G>A	ENSP00000420759.1:n.885-4333G>A
ENST00000482086.5:c.1193G>A	ENSP00000417253.1:p.Arg398Gln
ENST00000483687.5:c.1484G>A	ENSP00000420639.1:p.Arg495Gln
ENST00000484181.5:c.*222G>A	ENSP00000417937.1:n.*222G>A
ENST00000490504.5:c.1370G>A	ENSP00000418307.1:p.Arg457Gln
NM_000532.4:c.1541G>A	NP_000523.2:p.Arg514Gln
NM_001178014.1:c.1601G>A	NP_001171485.1:p.Arg534Gln
NM_000532.5:c.1541G>A MANE Select	NP_000523.2:p.Arg514Gln
NM_001178014.2:c.1601G>A	NP_001171485.1:p.Arg534Gln