Canonical Allele Identifier: CA10575810

Gene: PCCB

Linked Data

• ClinVar Variation Id: 217894
• ClinVar RCV Id: RCV000236206
• dbSNP Id: rs879253815
• gnomAD v2: 3-135980857-C-T
• gnomAD v3: 3-136262015-C-T
• gnomAD v4: 3-136262015-C-T
• COSMIC: COSM6041015
• MyVariant Identifiers: chr3:g.135980857C>T (hg19) ; chr3:g.136262015C>T (hg38)
• PubMed: PMID:27227689

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136262015C>T , CM000665.2:g.136262015C>T	GRCh38
NC_000003.11:g.135980857C>T , CM000665.1:g.135980857C>T	GRCh37
NC_000003.10:g.137463547C>T	NCBI36
NG_008939.1:g.16691C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.493C>T MANE Select	ENSP00000251654.4:p.Arg165Trp
ENST00000251654.8:c.493C>T	ENSP00000251654.4:p.Arg165Trp
ENST00000459873.1:c.244C>T	ENSP00000419293.1:p.Arg82Trp
ENST00000462542.5:c.360C>T
ENST00000462637.5:c.424C>T	ENSP00000420391.1:p.Arg142Trp
ENST00000465176.5:n.455C>T
ENST00000466072.5:c.493C>T	ENSP00000420158.1:p.Arg165Trp
ENST00000468777.5:c.586C>T	ENSP00000419129.1:p.Arg196Trp
ENST00000469217.5:c.553C>T	ENSP00000419027.1:p.Arg185Trp
ENST00000471595.5:c.493C>T	ENSP00000417549.1:p.Arg165Trp
ENST00000473073.1:n.450C>T
ENST00000474833.5:n.168+11457C>T
ENST00000475214.5:n.407C>T
ENST00000478469.5:c.493C>T	ENSP00000420759.1:p.Arg165Trp
ENST00000482086.5:c.145C>T	ENSP00000417253.1:p.Arg49Trp
ENST00000483687.5:c.436C>T	ENSP00000420639.1:p.Arg146Trp
ENST00000484181.5:c.493C>T	ENSP00000417937.1:p.Arg165Trp
ENST00000490504.5:c.372+5392C>T	ENSP00000418307.1:n.372+5392C>T
ENST00000494742.5:c.244C>T	ENSP00000418020.1:p.Arg82Trp
NM_000532.4:c.493C>T	NP_000523.2:p.Arg165Trp
NM_001178014.1:c.553C>T	NP_001171485.1:p.Arg185Trp
XM_011512873.1:c.493C>T	XP_011511175.1:p.Arg165Trp
XM_011512873.2:c.493C>T	XP_011511175.1:p.Arg165Trp
NM_000532.5:c.493C>T MANE Select	NP_000523.2:p.Arg165Trp
NM_001178014.2:c.553C>T	NP_001171485.1:p.Arg185Trp