Canonical Allele Identifier: CA2631689

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136256583G>A , CM000665.2:g.136256583G>A	GRCh38
NC_000003.11:g.135975425G>A , CM000665.1:g.135975425G>A	GRCh37
NC_000003.10:g.137458115G>A	NCBI36
NG_008939.1:g.11259G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.332G>A MANE Select	NP_000523.2:p.Arg111Gln
ENST00000251654.9:c.332G>A MANE Select	ENSP00000251654.4:p.Arg111Gln
NM_000532.4:c.332G>A	NP_000523.2:p.Arg111Gln
NM_001178014.1:c.332G>A	NP_001171485.1:p.Arg111Gln
NM_001178014.2:c.332G>A	NP_001171485.1:p.Arg111Gln
ENST00000251654.8:c.332G>A	ENSP00000251654.4:p.Arg111Gln
ENST00000459873.1:c.83G>A	ENSP00000419293.1:p.Arg28Gln
ENST00000462542.5:c.199G>A
ENST00000462637.5:c.303+608G>A	ENSP00000420391.1:n.303+608G>A
ENST00000465176.5:n.294G>A
ENST00000465423.5:c.419G>A	ENSP00000419263.1:p.Arg140Gln
ENST00000466072.5:c.332G>A	ENSP00000420158.1:p.Arg111Gln
ENST00000468777.5:c.332G>A	ENSP00000419129.1:p.Arg111Gln
ENST00000469217.5:c.332G>A	ENSP00000419027.1:p.Arg111Gln
ENST00000471595.5:c.332G>A	ENSP00000417549.1:p.Arg111Gln
ENST00000474833.5:n.168+6025G>A
ENST00000475214.5:n.246G>A
ENST00000478469.5:c.332G>A	ENSP00000420759.1:p.Arg111Gln
ENST00000482086.5:c.94-5381G>A	ENSP00000417253.1:n.94-5381G>A
ENST00000483687.5:c.332G>A	ENSP00000420639.1:p.Arg111Gln
ENST00000484181.5:c.332G>A	ENSP00000417937.1:p.Arg111Gln
ENST00000490504.5:c.332G>A	ENSP00000418307.1:p.Arg111Gln
ENST00000494742.5:c.83G>A	ENSP00000418020.1:p.Arg28Gln
XM_011512873.1:c.332G>A	XP_011511175.1:p.Arg111Gln
XM_011512873.2:c.332G>A	XP_011511175.1:p.Arg111Gln