Canonical Allele Identifier: CA435957500

Gene: PCCB

Linked Data

• gnomAD v4: 3-136262056-C-T
• MyVariant Identifiers: chr3:g.135980898C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136262056C>T , CM000665.2:g.136262056C>T	GRCh38
NC_000003.11:g.135980898C>T , CM000665.1:g.135980898C>T	GRCh37
NC_000003.10:g.137463588C>T	NCBI36
NG_008939.1:g.16732C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.534C>T MANE Select	ENSP00000251654.4:p.Asp178=
ENST00000251654.8:c.534C>T	ENSP00000251654.4:p.Asp178=
ENST00000459873.1:c.285C>T	ENSP00000419293.1:p.Asp95=
ENST00000462542.5:c.401C>T
ENST00000462637.5:c.465C>T	ENSP00000420391.1:p.Asp155=
ENST00000465176.5:n.496C>T
ENST00000466072.5:c.534C>T	ENSP00000420158.1:p.Asp178=
ENST00000468777.5:c.627C>T	ENSP00000419129.1:p.Asp209=
ENST00000469217.5:c.594C>T	ENSP00000419027.1:p.Asp198=
ENST00000471595.5:c.534C>T	ENSP00000417549.1:p.Asp178=
ENST00000473073.1:n.491C>T
ENST00000474833.5:n.168+11498C>T
ENST00000475214.5:n.448C>T
ENST00000478469.5:c.534C>T	ENSP00000420759.1:p.Asp178=
ENST00000482086.5:c.186C>T	ENSP00000417253.1:p.Asp62=
ENST00000483687.5:c.477C>T	ENSP00000420639.1:p.Asp159=
ENST00000484181.5:c.534C>T	ENSP00000417937.1:p.Asp178=
ENST00000490504.5:c.372+5433C>T	ENSP00000418307.1:n.372+5433C>T
NM_000532.4:c.534C>T	NP_000523.2:p.Asp178=
NM_001178014.1:c.594C>T	NP_001171485.1:p.Asp198=
XM_011512873.1:c.534C>T	XP_011511175.1:p.Asp178=
XM_011512873.2:c.534C>T	XP_011511175.1:p.Asp178=
NM_000532.5:c.534C>T MANE Select	NP_000523.2:p.Asp178=
NM_001178014.2:c.594C>T	NP_001171485.1:p.Asp198=