Canonical Allele Identifier: CA354648998

Gene: PCCB

Linked Data

• MyVariant Identifiers: chr3:g.136046005C>A (hg19) ; chr3:g.136327163C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136327163C>A , CM000665.2:g.136327163C>A	GRCh38
NC_000003.11:g.136046005C>A , CM000665.1:g.136046005C>A	GRCh37
NC_000003.10:g.137528695C>A	NCBI36
NG_008939.1:g.81839C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.1207C>A MANE Select	ENSP00000251654.4:p.Gln403Lys
ENST00000251654.8:c.1207C>A	ENSP00000251654.4:p.Gln403Lys
ENST00000462637.5:c.1138C>A	ENSP00000420391.1:p.Gln380Lys
ENST00000466072.5:c.1267C>A	ENSP00000420158.1:p.Gln423Lys
ENST00000468777.5:c.1300C>A	ENSP00000419129.1:p.Gln434Lys
ENST00000469217.5:c.1267C>A	ENSP00000419027.1:p.Gln423Lys
ENST00000471595.5:c.1207C>A	ENSP00000417549.1:p.Gln403Lys
ENST00000473073.1:n.1408C>A
ENST00000474833.5:n.823+253C>A
ENST00000478469.5:c.885-7117C>A	ENSP00000420759.1:n.885-7117C>A
ENST00000482086.5:c.859C>A	ENSP00000417253.1:p.Gln287Lys
ENST00000483687.5:c.1150C>A	ENSP00000420639.1:p.Gln384Lys
ENST00000484181.5:c.1198+253C>A	ENSP00000417937.1:n.1198+253C>A
ENST00000490504.5:c.1036C>A	ENSP00000418307.1:p.Gln346Lys
NM_000532.4:c.1207C>A	NP_000523.2:p.Gln403Lys
NM_001178014.1:c.1267C>A	NP_001171485.1:p.Gln423Lys
NM_000532.5:c.1207C>A MANE Select	NP_000523.2:p.Gln403Lys
NM_001178014.2:c.1267C>A	NP_001171485.1:p.Gln423Lys