Canonical Allele Identifier: CA354648393

Gene: PCCB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136326807C>A , CM000665.2:g.136326807C>A	GRCh38
NC_000003.11:g.136045649C>A , CM000665.1:g.136045649C>A	GRCh37
NC_000003.10:g.137528339C>A	NCBI36
NG_008939.1:g.81483C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000532.5:c.1095C>A MANE Select	NP_000523.2:p.Cys365Ter
ENST00000251654.9:c.1095C>A MANE Select	ENSP00000251654.4:p.Cys365Ter
NM_000532.4:c.1095C>A	NP_000523.2:p.Cys365Ter
NM_001178014.1:c.1155C>A	NP_001171485.1:p.Cys385Ter
NM_001178014.2:c.1155C>A	NP_001171485.1:p.Cys385Ter
ENST00000251654.8:c.1095C>A	ENSP00000251654.4:p.Cys365Ter
ENST00000462637.5:c.1026C>A	ENSP00000420391.1:p.Cys342Ter
ENST00000466072.5:c.1155C>A	ENSP00000420158.1:p.Cys385Ter
ENST00000468777.5:c.1188C>A	ENSP00000419129.1:p.Cys396Ter
ENST00000469217.5:c.1155C>A	ENSP00000419027.1:p.Cys385Ter
ENST00000471595.5:c.1095C>A	ENSP00000417549.1:p.Cys365Ter
ENST00000473073.1:n.1052C>A
ENST00000474833.5:n.720C>A
ENST00000475214.5:n.1009C>A
ENST00000478469.5:c.885-7473C>A	ENSP00000420759.1:n.885-7473C>A
ENST00000482086.5:c.747C>A	ENSP00000417253.1:p.Cys249Ter
ENST00000483687.5:c.1038C>A	ENSP00000420639.1:p.Cys346Ter
ENST00000484181.5:c.1095C>A	ENSP00000417937.1:p.Cys365Ter
ENST00000490504.5:c.924C>A	ENSP00000418307.1:p.Cys308Ter