Canonical Allele Identifier: CA354650084

Gene: PCCB

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.1548C>A MANE Select	ENSP00000251654.4:p.Cys516Ter
ENST00000251654.8:c.1548C>A	ENSP00000251654.4:p.Cys516Ter
ENST00000462637.5:c.1479C>A	ENSP00000420391.1:p.Cys493Ter
ENST00000466072.5:c.1608C>A	ENSP00000420158.1:p.Cys536Ter
ENST00000468777.5:c.1641C>A	ENSP00000419129.1:p.Cys547Ter
ENST00000469217.5:c.1608C>A	ENSP00000419027.1:p.Cys536Ter
ENST00000471595.5:c.1548C>A	ENSP00000417549.1:p.Cys516Ter
ENST00000473073.1:n.1749C>A
ENST00000478469.5:c.885-4326C>A	ENSP00000420759.1:n.885-4326C>A
ENST00000482086.5:c.1200C>A	ENSP00000417253.1:p.Cys400Ter
ENST00000483687.5:c.1491C>A	ENSP00000420639.1:p.Cys497Ter
ENST00000484181.5:c.*229C>A	ENSP00000417937.1:n.*229C>A
ENST00000490504.5:c.1377C>A	ENSP00000418307.1:p.Cys459Ter
NM_000532.4:c.1548C>A	NP_000523.2:p.Cys516Ter
NM_001178014.1:c.1608C>A	NP_001171485.1:p.Cys536Ter
NM_000532.5:c.1548C>A MANE Select	NP_000523.2:p.Cys516Ter
NM_001178014.2:c.1608C>A	NP_001171485.1:p.Cys536Ter