Canonical Allele Identifier: CA2667839402

Gene: PCCB

Linked Data

• gnomAD v4: 3-136261815-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136261815A>G , CM000665.2:g.136261815A>G	GRCh38
NC_000003.11:g.135980657A>G , CM000665.1:g.135980657A>G	GRCh37
NC_000003.10:g.137463347A>G	NCBI36
NG_008939.1:g.16491A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.430-137A>G MANE Select	ENSP00000251654.4:n.430-137A>G
ENST00000251654.8:c.430-137A>G	ENSP00000251654.4:n.430-137A>G
ENST00000459873.1:c.181-137A>G	ENSP00000419293.1:n.181-137A>G
ENST00000462542.5:c.297-137A>G
ENST00000462637.5:c.361-137A>G	ENSP00000420391.1:n.361-137A>G
ENST00000465176.5:n.392-137A>G
ENST00000465423.5:c.517-137A>G	ENSP00000419263.1:n.517-137A>G
ENST00000466072.5:c.430-137A>G	ENSP00000420158.1:n.430-137A>G
ENST00000468777.5:c.523-137A>G	ENSP00000419129.1:n.523-137A>G
ENST00000469217.5:c.490-137A>G	ENSP00000419027.1:n.490-137A>G
ENST00000471595.5:c.430-137A>G	ENSP00000417549.1:n.430-137A>G
ENST00000473073.1:n.387-137A>G
ENST00000474833.5:n.168+11257A>G
ENST00000475214.5:n.344-137A>G
ENST00000478469.5:c.430-137A>G	ENSP00000420759.1:n.430-137A>G
ENST00000482086.5:c.94-149A>G	ENSP00000417253.1:n.94-149A>G
ENST00000483687.5:c.373-137A>G	ENSP00000420639.1:n.373-137A>G
ENST00000484181.5:c.430-137A>G	ENSP00000417937.1:n.430-137A>G
ENST00000490504.5:c.372+5192A>G	ENSP00000418307.1:n.372+5192A>G
ENST00000494742.5:c.181-137A>G	ENSP00000418020.1:n.181-137A>G
NM_000532.4:c.430-137A>G	NP_000523.2:n.430-137A>G
NM_001178014.1:c.490-137A>G	NP_001171485.1:n.490-137A>G
XM_011512873.1:c.430-137A>G	XP_011511175.1:n.430-137A>G
XM_011512873.2:c.430-137A>G	XP_011511175.1:n.430-137A>G
NM_000532.5:c.430-137A>G MANE Select	NP_000523.2:n.430-137A>G
NM_001178014.2:c.490-137A>G	NP_001171485.1:n.490-137A>G