Canonical Allele Identifier: CA913102141

Gene: PCCB

Linked Data

• MyVariant Identifiers: chr3:g.136048802dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136329961dup , CM000665.2:g.136329961dup	GRCh38
NC_000003.11:g.136048803dup , CM000665.1:g.136048803dup	GRCh37
NC_000003.10:g.137531493dup	NCBI36
NG_008939.1:g.84637dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.1555dup MANE Select	ENSP00000251654.4:p.Leu519ProfsTer?
ENST00000251654.8:c.1555dup	ENSP00000251654.4:p.Leu519ProfsTer?
ENST00000462637.5:c.1486dup	ENSP00000420391.1:p.Leu496ProfsTer?
ENST00000466072.5:c.1615dup	ENSP00000420158.1:p.Leu539ProfsTer?
ENST00000468777.5:c.1648dup	ENSP00000419129.1:p.Leu550ProfsTer?
ENST00000469217.5:c.1615dup	ENSP00000419027.1:p.Leu539ProfsTer?
ENST00000471595.5:c.1555dup	ENSP00000417549.1:p.Leu519ProfsTer27
ENST00000473073.1:n.1756dup
ENST00000478469.5:c.885-4319dup	ENSP00000420759.1:n.885-4319dup
ENST00000482086.5:c.1207dup	ENSP00000417253.1:p.Leu403ProfsTer?
ENST00000483687.5:c.1498dup	ENSP00000420639.1:p.Leu500ProfsTer?
ENST00000484181.5:c.*236dup	ENSP00000417937.1:n.*236dup
ENST00000490504.5:c.1384dup	ENSP00000418307.1:p.Leu462ProfsTer?
NM_000532.4:c.1555dup	NP_000523.2:p.Leu519ProfsTer?
NM_001178014.1:c.1615dup	NP_001171485.1:p.Leu539ProfsTer?
NM_000532.5:c.1555dup MANE Select	NP_000523.2:p.Leu519ProfsTer?
NM_001178014.2:c.1615dup	NP_001171485.1:p.Leu539ProfsTer?