Canonical Allele Identifier: CA354739991

Gene: PCCB

Linked Data

• MyVariant Identifiers: chr3:g.135980897A>C (hg19) ; chr3:g.136262055A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136262055A>C , CM000665.2:g.136262055A>C	GRCh38
NC_000003.11:g.135980897A>C , CM000665.1:g.135980897A>C	GRCh37
NC_000003.10:g.137463587A>C	NCBI36
NG_008939.1:g.16731A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.533A>C MANE Select	ENSP00000251654.4:p.Asp178Ala
ENST00000251654.8:c.533A>C	ENSP00000251654.4:p.Asp178Ala
ENST00000459873.1:c.284A>C	ENSP00000419293.1:p.Asp95Ala
ENST00000462542.5:c.400A>C
ENST00000462637.5:c.464A>C	ENSP00000420391.1:p.Asp155Ala
ENST00000465176.5:n.495A>C
ENST00000466072.5:c.533A>C	ENSP00000420158.1:p.Asp178Ala
ENST00000468777.5:c.626A>C	ENSP00000419129.1:p.Asp209Ala
ENST00000469217.5:c.593A>C	ENSP00000419027.1:p.Asp198Ala
ENST00000471595.5:c.533A>C	ENSP00000417549.1:p.Asp178Ala
ENST00000473073.1:n.490A>C
ENST00000474833.5:n.168+11497A>C
ENST00000475214.5:n.447A>C
ENST00000478469.5:c.533A>C	ENSP00000420759.1:p.Asp178Ala
ENST00000482086.5:c.185A>C	ENSP00000417253.1:p.Asp62Ala
ENST00000483687.5:c.476A>C	ENSP00000420639.1:p.Asp159Ala
ENST00000484181.5:c.533A>C	ENSP00000417937.1:p.Asp178Ala
ENST00000490504.5:c.372+5432A>C	ENSP00000418307.1:n.372+5432A>C
NM_000532.4:c.533A>C	NP_000523.2:p.Asp178Ala
NM_001178014.1:c.593A>C	NP_001171485.1:p.Asp198Ala
XM_011512873.1:c.533A>C	XP_011511175.1:p.Asp178Ala
XM_011512873.2:c.533A>C	XP_011511175.1:p.Asp178Ala
NM_000532.5:c.533A>C MANE Select	NP_000523.2:p.Asp178Ala
NM_001178014.2:c.593A>C	NP_001171485.1:p.Asp198Ala