Canonical Allele Identifier: CA354644543

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136297988C>A , CM000665.2:g.136297988C>A	GRCh38
NC_000003.11:g.136016830C>A , CM000665.1:g.136016830C>A	GRCh37
NC_000003.10:g.137499520C>A	NCBI36
NG_008939.1:g.52664C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.800C>A MANE Select	NP_000523.2:p.Ala267Asp
ENST00000251654.9:c.800C>A MANE Select	ENSP00000251654.4:p.Ala267Asp
NM_000532.4:c.800C>A	NP_000523.2:p.Ala267Asp
NM_001178014.1:c.860C>A	NP_001171485.1:p.Ala287Asp
NM_001178014.2:c.860C>A	NP_001171485.1:p.Ala287Asp
ENST00000251654.8:c.800C>A	ENSP00000251654.4:p.Ala267Asp
ENST00000462637.5:c.731C>A	ENSP00000420391.1:p.Ala244Asp
ENST00000466072.5:c.800C>A	ENSP00000420158.1:p.Ala267Asp
ENST00000468777.5:c.893C>A	ENSP00000419129.1:p.Ala298Asp
ENST00000469217.5:c.860C>A	ENSP00000419027.1:p.Ala287Asp
ENST00000471595.5:c.800C>A	ENSP00000417549.1:p.Ala267Asp
ENST00000473073.1:n.757C>A
ENST00000474833.5:n.425C>A
ENST00000475214.5:n.714C>A
ENST00000478469.5:c.800C>A	ENSP00000420759.1:p.Ala267Asp
ENST00000482086.5:c.452C>A	ENSP00000417253.1:p.Ala151Asp
ENST00000483687.5:c.743C>A	ENSP00000420639.1:p.Ala248Asp
ENST00000484181.5:c.800C>A	ENSP00000417937.1:p.Ala267Asp
ENST00000490504.5:c.629C>A	ENSP00000418307.1:p.Ala210Asp
XM_011512873.1:c.800C>A	XP_011511175.1:p.Ala267Asp
XM_011512873.2:c.800C>A	XP_011511175.1:p.Ala267Asp