Canonical Allele Identifier: CA354650089

Gene: PCCB

Linked Data

• MyVariant Identifiers: chr3:g.136048797T>G (hg19) ; chr3:g.136329955T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136329955T>G , CM000665.2:g.136329955T>G	GRCh38
NC_000003.11:g.136048797T>G , CM000665.1:g.136048797T>G	GRCh37
NC_000003.10:g.137531487T>G	NCBI36
NG_008939.1:g.84631T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000251654.9:c.1549T>G MANE Select	ENSP00000251654.4:p.Cys517Gly
ENST00000251654.8:c.1549T>G	ENSP00000251654.4:p.Cys517Gly
ENST00000462637.5:c.1480T>G	ENSP00000420391.1:p.Cys494Gly
ENST00000466072.5:c.1609T>G	ENSP00000420158.1:p.Cys537Gly
ENST00000468777.5:c.1642T>G	ENSP00000419129.1:p.Cys548Gly
ENST00000469217.5:c.1609T>G	ENSP00000419027.1:p.Cys537Gly
ENST00000471595.5:c.1549T>G	ENSP00000417549.1:p.Cys517Gly
ENST00000473073.1:n.1750T>G
ENST00000478469.5:c.885-4325T>G	ENSP00000420759.1:n.885-4325T>G
ENST00000482086.5:c.1201T>G	ENSP00000417253.1:p.Cys401Gly
ENST00000483687.5:c.1492T>G	ENSP00000420639.1:p.Cys498Gly
ENST00000484181.5:c.*230T>G	ENSP00000417937.1:n.*230T>G
ENST00000490504.5:c.1378T>G	ENSP00000418307.1:p.Cys460Gly
NM_000532.4:c.1549T>G	NP_000523.2:p.Cys517Gly
NM_001178014.1:c.1609T>G	NP_001171485.1:p.Cys537Gly
NM_000532.5:c.1549T>G MANE Select	NP_000523.2:p.Cys517Gly
NM_001178014.2:c.1609T>G	NP_001171485.1:p.Cys537Gly