Canonical Allele Identifier: CA354650086

Gene: PCCB

Linked Data

• MyVariant Identifiers: chr3:g.136048796C>G (hg19) ; chr3:g.136329954C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136329954C>G , CM000665.2:g.136329954C>G	GRCh38
NC_000003.11:g.136048796C>G , CM000665.1:g.136048796C>G	GRCh37
NC_000003.10:g.137531486C>G	NCBI36
NG_008939.1:g.84630C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.1548C>G MANE Select	ENSP00000251654.4:p.Cys516Trp
ENST00000251654.8:c.1548C>G	ENSP00000251654.4:p.Cys516Trp
ENST00000462637.5:c.1479C>G	ENSP00000420391.1:p.Cys493Trp
ENST00000466072.5:c.1608C>G	ENSP00000420158.1:p.Cys536Trp
ENST00000468777.5:c.1641C>G	ENSP00000419129.1:p.Cys547Trp
ENST00000469217.5:c.1608C>G	ENSP00000419027.1:p.Cys536Trp
ENST00000471595.5:c.1548C>G	ENSP00000417549.1:p.Cys516Trp
ENST00000473073.1:n.1749C>G
ENST00000478469.5:c.885-4326C>G	ENSP00000420759.1:n.885-4326C>G
ENST00000482086.5:c.1200C>G	ENSP00000417253.1:p.Cys400Trp
ENST00000483687.5:c.1491C>G	ENSP00000420639.1:p.Cys497Trp
ENST00000484181.5:c.*229C>G	ENSP00000417937.1:n.*229C>G
ENST00000490504.5:c.1377C>G	ENSP00000418307.1:p.Cys459Trp
NM_000532.4:c.1548C>G	NP_000523.2:p.Cys516Trp
NM_001178014.1:c.1608C>G	NP_001171485.1:p.Cys536Trp
NM_000532.5:c.1548C>G MANE Select	NP_000523.2:p.Cys516Trp
NM_001178014.2:c.1608C>G	NP_001171485.1:p.Cys536Trp