Canonical Allele Identifier: CA354648616

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136326858T>A , CM000665.2:g.136326858T>A	GRCh38
NC_000003.11:g.136045700T>A , CM000665.1:g.136045700T>A	GRCh37
NC_000003.10:g.137528390T>A	NCBI36
NG_008939.1:g.81534T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.1146T>A MANE Select	NP_000523.2:p.Asp382Glu
ENST00000251654.9:c.1146T>A MANE Select	ENSP00000251654.4:p.Asp382Glu
NM_000532.4:c.1146T>A	NP_000523.2:p.Asp382Glu
NM_001178014.1:c.1206T>A	NP_001171485.1:p.Asp402Glu
NM_001178014.2:c.1206T>A	NP_001171485.1:p.Asp402Glu
ENST00000251654.8:c.1146T>A	ENSP00000251654.4:p.Asp382Glu
ENST00000462637.5:c.1077T>A	ENSP00000420391.1:p.Asp359Glu
ENST00000466072.5:c.1206T>A	ENSP00000420158.1:p.Asp402Glu
ENST00000468777.5:c.1239T>A	ENSP00000419129.1:p.Asp413Glu
ENST00000469217.5:c.1206T>A	ENSP00000419027.1:p.Asp402Glu
ENST00000471595.5:c.1146T>A	ENSP00000417549.1:p.Asp382Glu
ENST00000473073.1:n.1103T>A
ENST00000474833.5:n.771T>A
ENST00000475214.5:n.1060T>A
ENST00000478469.5:c.885-7422T>A	ENSP00000420759.1:n.885-7422T>A
ENST00000482086.5:c.798T>A	ENSP00000417253.1:p.Asp266Glu
ENST00000483687.5:c.1089T>A	ENSP00000420639.1:p.Asp363Glu
ENST00000484181.5:c.1146T>A	ENSP00000417937.1:p.Asp382Glu
ENST00000490504.5:c.975T>A	ENSP00000418307.1:p.Asp325Glu