Canonical Allele Identifier: CA354649608

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136328788G>T , CM000665.2:g.136328788G>T	GRCh38
NC_000003.11:g.136047630G>T , CM000665.1:g.136047630G>T	GRCh37
NC_000003.10:g.137530320G>T	NCBI36
NG_008939.1:g.83464G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.1429G>T MANE Select	NP_000523.2:p.Glu477Ter
ENST00000251654.9:c.1429G>T MANE Select	ENSP00000251654.4:p.Glu477Ter
NM_000532.4:c.1429G>T	NP_000523.2:p.Glu477Ter
NM_001178014.1:c.1489G>T	NP_001171485.1:p.Glu497Ter
NM_001178014.2:c.1489G>T	NP_001171485.1:p.Glu497Ter
ENST00000251654.8:c.1429G>T	ENSP00000251654.4:p.Glu477Ter
ENST00000462637.5:c.1360G>T	ENSP00000420391.1:p.Glu454Ter
ENST00000466072.5:c.1489G>T	ENSP00000420158.1:p.Glu497Ter
ENST00000468777.5:c.1522G>T	ENSP00000419129.1:p.Glu508Ter
ENST00000469217.5:c.1489G>T	ENSP00000419027.1:p.Glu497Ter
ENST00000471595.5:c.1429G>T	ENSP00000417549.1:p.Glu477Ter
ENST00000473073.1:n.1630G>T
ENST00000478469.5:c.885-5492G>T	ENSP00000420759.1:n.885-5492G>T
ENST00000482086.5:c.1081G>T	ENSP00000417253.1:p.Glu361Ter
ENST00000483687.5:c.1372G>T	ENSP00000420639.1:p.Glu458Ter
ENST00000484181.5:c.*110G>T	ENSP00000417937.1:n.*110G>T
ENST00000490504.5:c.1258G>T	ENSP00000418307.1:p.Glu420Ter