Canonical Allele Identifier: CA343140

Gene: PCCB

Linked Data

• ClinVar Variation Id: 38879
• ClinVar RCV Id: RCV000032128 ; RCV001090671 ; RCV002513291
• dbSNP Id: rs186710233
• ExAC: 3:136048782 C / T
• gnomAD v2: 3-136048782-C-T
• gnomAD v3: 3-136329940-C-T
• gnomAD v4: 3-136329940-C-T
• MyVariant Identifiers: chr3:g.136048782C>T (hg19) ; chr3:g.136329940C>T (hg38)
• PubMed: PMID:22593918

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136329940C>T , CM000665.2:g.136329940C>T	GRCh38
NC_000003.11:g.136048782C>T , CM000665.1:g.136048782C>T	GRCh37
NC_000003.10:g.137531472C>T	NCBI36
NG_008939.1:g.84616C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.1534C>T MANE Select	ENSP00000251654.4:p.Arg512Cys
ENST00000251654.8:c.1534C>T	ENSP00000251654.4:p.Arg512Cys
ENST00000462637.5:c.1465C>T	ENSP00000420391.1:p.Arg489Cys
ENST00000466072.5:c.1594C>T	ENSP00000420158.1:p.Arg532Cys
ENST00000468777.5:c.1627C>T	ENSP00000419129.1:p.Arg543Cys
ENST00000469217.5:c.1594C>T	ENSP00000419027.1:p.Arg532Cys
ENST00000471595.5:c.1534C>T	ENSP00000417549.1:p.Arg512Cys
ENST00000473073.1:n.1735C>T
ENST00000478469.5:c.885-4340C>T	ENSP00000420759.1:n.885-4340C>T
ENST00000482086.5:c.1186C>T	ENSP00000417253.1:p.Arg396Cys
ENST00000483687.5:c.1477C>T	ENSP00000420639.1:p.Arg493Cys
ENST00000484181.5:c.*215C>T	ENSP00000417937.1:n.*215C>T
ENST00000490504.5:c.1363C>T	ENSP00000418307.1:p.Arg455Cys
NM_000532.4:c.1534C>T	NP_000523.2:p.Arg512Cys
NM_001178014.1:c.1594C>T	NP_001171485.1:p.Arg532Cys
NM_000532.5:c.1534C>T MANE Select	NP_000523.2:p.Arg512Cys
NM_001178014.2:c.1594C>T	NP_001171485.1:p.Arg532Cys