Canonical Allele Identifier: CA354739916

Gene: PCCB

Linked Data

• MyVariant Identifiers: chr3:g.135980876A>G (hg19) ; chr3:g.136262034A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136262034A>G , CM000665.2:g.136262034A>G	GRCh38
NC_000003.11:g.135980876A>G , CM000665.1:g.135980876A>G	GRCh37
NC_000003.10:g.137463566A>G	NCBI36
NG_008939.1:g.16710A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.512A>G MANE Select	ENSP00000251654.4:p.Glu171Gly
ENST00000251654.8:c.512A>G	ENSP00000251654.4:p.Glu171Gly
ENST00000459873.1:c.263A>G	ENSP00000419293.1:p.Glu88Gly
ENST00000462542.5:c.379A>G
ENST00000462637.5:c.443A>G	ENSP00000420391.1:p.Glu148Gly
ENST00000465176.5:n.474A>G
ENST00000466072.5:c.512A>G	ENSP00000420158.1:p.Glu171Gly
ENST00000468777.5:c.605A>G	ENSP00000419129.1:p.Glu202Gly
ENST00000469217.5:c.572A>G	ENSP00000419027.1:p.Glu191Gly
ENST00000471595.5:c.512A>G	ENSP00000417549.1:p.Glu171Gly
ENST00000473073.1:n.469A>G
ENST00000474833.5:n.168+11476A>G
ENST00000475214.5:n.426A>G
ENST00000478469.5:c.512A>G	ENSP00000420759.1:p.Glu171Gly
ENST00000482086.5:c.164A>G	ENSP00000417253.1:p.Glu55Gly
ENST00000483687.5:c.455A>G	ENSP00000420639.1:p.Glu152Gly
ENST00000484181.5:c.512A>G	ENSP00000417937.1:p.Glu171Gly
ENST00000490504.5:c.372+5411A>G	ENSP00000418307.1:n.372+5411A>G
NM_000532.4:c.512A>G	NP_000523.2:p.Glu171Gly
NM_001178014.1:c.572A>G	NP_001171485.1:p.Glu191Gly
XM_011512873.1:c.512A>G	XP_011511175.1:p.Glu171Gly
XM_011512873.2:c.512A>G	XP_011511175.1:p.Glu171Gly
NM_000532.5:c.512A>G MANE Select	NP_000523.2:p.Glu171Gly
NM_001178014.2:c.572A>G	NP_001171485.1:p.Glu191Gly