Canonical Allele Identifier: CA354739627

Gene: PCCB

Linked Data

• MyVariant Identifiers: chr3:g.135980837T>G (hg19) ; chr3:g.136261995T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136261995T>G , CM000665.2:g.136261995T>G	GRCh38
NC_000003.11:g.135980837T>G , CM000665.1:g.135980837T>G	GRCh37
NC_000003.10:g.137463527T>G	NCBI36
NG_008939.1:g.16671T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.473T>G MANE Select	ENSP00000251654.4:p.Leu158Arg
ENST00000251654.8:c.473T>G	ENSP00000251654.4:p.Leu158Arg
ENST00000459873.1:c.224T>G	ENSP00000419293.1:p.Leu75Arg
ENST00000462542.5:c.340T>G
ENST00000462637.5:c.404T>G	ENSP00000420391.1:p.Leu135Arg
ENST00000465176.5:n.435T>G
ENST00000465423.5:c.560T>G	ENSP00000419263.1:p.Leu187Arg
ENST00000466072.5:c.473T>G	ENSP00000420158.1:p.Leu158Arg
ENST00000468777.5:c.566T>G	ENSP00000419129.1:p.Leu189Arg
ENST00000469217.5:c.533T>G	ENSP00000419027.1:p.Leu178Arg
ENST00000471595.5:c.473T>G	ENSP00000417549.1:p.Leu158Arg
ENST00000473073.1:n.430T>G
ENST00000474833.5:n.168+11437T>G
ENST00000475214.5:n.387T>G
ENST00000478469.5:c.473T>G	ENSP00000420759.1:p.Leu158Arg
ENST00000482086.5:c.125T>G	ENSP00000417253.1:p.Leu42Arg
ENST00000483687.5:c.416T>G	ENSP00000420639.1:p.Leu139Arg
ENST00000484181.5:c.473T>G	ENSP00000417937.1:p.Leu158Arg
ENST00000490504.5:c.372+5372T>G	ENSP00000418307.1:n.372+5372T>G
ENST00000494742.5:c.224T>G	ENSP00000418020.1:p.Leu75Arg
NM_000532.4:c.473T>G	NP_000523.2:p.Leu158Arg
NM_001178014.1:c.533T>G	NP_001171485.1:p.Leu178Arg
XM_011512873.1:c.473T>G	XP_011511175.1:p.Leu158Arg
XM_011512873.2:c.473T>G	XP_011511175.1:p.Leu158Arg
NM_000532.5:c.473T>G MANE Select	NP_000523.2:p.Leu158Arg
NM_001178014.2:c.533T>G	NP_001171485.1:p.Leu178Arg