Canonical Allele Identifier: CA354739354

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136260516A>G , CM000665.2:g.136260516A>G	GRCh38
NC_000003.11:g.135979358A>G , CM000665.1:g.135979358A>G	GRCh37
NC_000003.10:g.137462048A>G	NCBI36
NG_008939.1:g.15192A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.410A>G MANE Select	NP_000523.2:p.His137Arg
ENST00000251654.9:c.410A>G MANE Select	ENSP00000251654.4:p.His137Arg
NM_000532.4:c.410A>G	NP_000523.2:p.His137Arg
NM_001178014.1:c.470A>G	NP_001171485.1:p.His157Arg
NM_001178014.2:c.470A>G	NP_001171485.1:p.His157Arg
ENST00000251654.8:c.410A>G	ENSP00000251654.4:p.His137Arg
ENST00000459873.1:c.161A>G	ENSP00000419293.1:p.His54Arg
ENST00000462542.5:c.277A>G
ENST00000462637.5:c.341A>G	ENSP00000420391.1:p.His114Arg
ENST00000465176.5:n.372A>G
ENST00000465423.5:c.497A>G	ENSP00000419263.1:p.His166Arg
ENST00000466072.5:c.410A>G	ENSP00000420158.1:p.His137Arg
ENST00000468777.5:c.503A>G	ENSP00000419129.1:p.His168Arg
ENST00000469217.5:c.470A>G	ENSP00000419027.1:p.His157Arg
ENST00000471595.5:c.410A>G	ENSP00000417549.1:p.His137Arg
ENST00000473073.1:n.367A>G
ENST00000474833.5:n.168+9958A>G
ENST00000475214.5:n.324A>G
ENST00000478469.5:c.410A>G	ENSP00000420759.1:p.His137Arg
ENST00000482086.5:c.94-1448A>G	ENSP00000417253.1:n.94-1448A>G
ENST00000483687.5:c.373-1436A>G	ENSP00000420639.1:n.373-1436A>G
ENST00000484181.5:c.410A>G	ENSP00000417937.1:p.His137Arg
ENST00000490504.5:c.372+3893A>G	ENSP00000418307.1:n.372+3893A>G
ENST00000494742.5:c.161A>G	ENSP00000418020.1:p.His54Arg
XM_011512873.1:c.410A>G	XP_011511175.1:p.His137Arg
XM_011512873.2:c.410A>G	XP_011511175.1:p.His137Arg