Canonical Allele Identifier: CA2632146

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136327635C>T , CM000665.2:g.136327635C>T	GRCh38
NC_000003.11:g.136046477C>T , CM000665.1:g.136046477C>T	GRCh37
NC_000003.10:g.137529167C>T	NCBI36
NG_008939.1:g.82311C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.1301C>T MANE Select	NP_000523.2:p.Ala434Val
ENST00000251654.9:c.1301C>T MANE Select	ENSP00000251654.4:p.Ala434Val
NM_000532.4:c.1301C>T	NP_000523.2:p.Ala434Val
NM_001178014.1:c.1361C>T	NP_001171485.1:p.Ala454Val
NM_001178014.2:c.1361C>T	NP_001171485.1:p.Ala454Val
ENST00000251654.8:c.1301C>T	ENSP00000251654.4:p.Ala434Val
ENST00000462637.5:c.1232C>T	ENSP00000420391.1:p.Ala411Val
ENST00000466072.5:c.1361C>T	ENSP00000420158.1:p.Ala454Val
ENST00000468777.5:c.1394C>T	ENSP00000419129.1:p.Ala465Val
ENST00000469217.5:c.1361C>T	ENSP00000419027.1:p.Ala454Val
ENST00000471595.5:c.1301C>T	ENSP00000417549.1:p.Ala434Val
ENST00000473073.1:n.1502C>T
ENST00000474833.5:n.825C>T
ENST00000478469.5:c.885-6645C>T	ENSP00000420759.1:n.885-6645C>T
ENST00000482086.5:c.953C>T	ENSP00000417253.1:p.Ala318Val
ENST00000483687.5:c.1244C>T	ENSP00000420639.1:p.Ala415Val
ENST00000484181.5:c.1200C>T	ENSP00000417937.1:p.Gly400=
ENST00000490504.5:c.1130C>T	ENSP00000418307.1:p.Ala377Val