Canonical Allele Identifier: CA354649293

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136327647C>A , CM000665.2:g.136327647C>A	GRCh38
NC_000003.11:g.136046489C>A , CM000665.1:g.136046489C>A	GRCh37
NC_000003.10:g.137529179C>A	NCBI36
NG_008939.1:g.82323C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.1313C>A MANE Select	NP_000523.2:p.Ala438Asp
ENST00000251654.9:c.1313C>A MANE Select	ENSP00000251654.4:p.Ala438Asp
NM_000532.4:c.1313C>A	NP_000523.2:p.Ala438Asp
NM_001178014.1:c.1373C>A	NP_001171485.1:p.Ala458Asp
NM_001178014.2:c.1373C>A	NP_001171485.1:p.Ala458Asp
ENST00000251654.8:c.1313C>A	ENSP00000251654.4:p.Ala438Asp
ENST00000462637.5:c.1244C>A	ENSP00000420391.1:p.Ala415Asp
ENST00000466072.5:c.1373C>A	ENSP00000420158.1:p.Ala458Asp
ENST00000468777.5:c.1406C>A	ENSP00000419129.1:p.Ala469Asp
ENST00000469217.5:c.1373C>A	ENSP00000419027.1:p.Ala458Asp
ENST00000471595.5:c.1313C>A	ENSP00000417549.1:p.Ala438Asp
ENST00000473073.1:n.1514C>A
ENST00000474833.5:n.837C>A
ENST00000478469.5:c.885-6633C>A	ENSP00000420759.1:n.885-6633C>A
ENST00000482086.5:c.965C>A	ENSP00000417253.1:p.Ala322Asp
ENST00000483687.5:c.1256C>A	ENSP00000420639.1:p.Ala419Asp
ENST00000484181.5:c.1212C>A	ENSP00000417937.1:p.Cys404Ter
ENST00000490504.5:c.1142C>A	ENSP00000418307.1:p.Ala381Asp