Canonical Allele Identifier: CA2667839430

Gene: PCCB

Linked Data

• gnomAD v4: 3-136261833-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136261833G>T , CM000665.2:g.136261833G>T	GRCh38
NC_000003.11:g.135980675G>T , CM000665.1:g.135980675G>T	GRCh37
NC_000003.10:g.137463365G>T	NCBI36
NG_008939.1:g.16509G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.430-119G>T MANE Select	ENSP00000251654.4:n.430-119G>T
ENST00000251654.8:c.430-119G>T	ENSP00000251654.4:n.430-119G>T
ENST00000459873.1:c.181-119G>T	ENSP00000419293.1:n.181-119G>T
ENST00000462542.5:c.297-119G>T
ENST00000462637.5:c.361-119G>T	ENSP00000420391.1:n.361-119G>T
ENST00000465176.5:n.392-119G>T
ENST00000465423.5:c.517-119G>T	ENSP00000419263.1:n.517-119G>T
ENST00000466072.5:c.430-119G>T	ENSP00000420158.1:n.430-119G>T
ENST00000468777.5:c.523-119G>T	ENSP00000419129.1:n.523-119G>T
ENST00000469217.5:c.490-119G>T	ENSP00000419027.1:n.490-119G>T
ENST00000471595.5:c.430-119G>T	ENSP00000417549.1:n.430-119G>T
ENST00000473073.1:n.387-119G>T
ENST00000474833.5:n.168+11275G>T
ENST00000475214.5:n.344-119G>T
ENST00000478469.5:c.430-119G>T	ENSP00000420759.1:n.430-119G>T
ENST00000482086.5:c.94-131G>T	ENSP00000417253.1:n.94-131G>T
ENST00000483687.5:c.373-119G>T	ENSP00000420639.1:n.373-119G>T
ENST00000484181.5:c.430-119G>T	ENSP00000417937.1:n.430-119G>T
ENST00000490504.5:c.372+5210G>T	ENSP00000418307.1:n.372+5210G>T
ENST00000494742.5:c.181-119G>T	ENSP00000418020.1:n.181-119G>T
NM_000532.4:c.430-119G>T	NP_000523.2:n.430-119G>T
NM_001178014.1:c.490-119G>T	NP_001171485.1:n.490-119G>T
XM_011512873.1:c.430-119G>T	XP_011511175.1:n.430-119G>T
XM_011512873.2:c.430-119G>T	XP_011511175.1:n.430-119G>T
NM_000532.5:c.430-119G>T MANE Select	NP_000523.2:n.430-119G>T
NM_001178014.2:c.490-119G>T	NP_001171485.1:n.490-119G>T