Canonical Allele Identifier: CA354739561

Gene: PCCB

Linked Data

• gnomAD v4: 3-136261970-A-G
• MyVariant Identifiers: chr3:g.135980812A>G (hg19) ; chr3:g.136261970A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.136261970A>G , CM000665.2:g.136261970A>G	GRCh38
NC_000003.11:g.135980812A>G , CM000665.1:g.135980812A>G	GRCh37
NC_000003.10:g.137463502A>G	NCBI36
NG_008939.1:g.16646A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000251654.9:c.448A>G MANE Select	ENSP00000251654.4:p.Thr150Ala
ENST00000251654.8:c.448A>G	ENSP00000251654.4:p.Thr150Ala
ENST00000459873.1:c.199A>G	ENSP00000419293.1:p.Thr67Ala
ENST00000462542.5:c.315A>G
ENST00000462637.5:c.379A>G	ENSP00000420391.1:p.Thr127Ala
ENST00000465176.5:n.410A>G
ENST00000465423.5:c.535A>G	ENSP00000419263.1:p.Thr179Ala
ENST00000466072.5:c.448A>G	ENSP00000420158.1:p.Thr150Ala
ENST00000468777.5:c.541A>G	ENSP00000419129.1:p.Thr181Ala
ENST00000469217.5:c.508A>G	ENSP00000419027.1:p.Thr170Ala
ENST00000471595.5:c.448A>G	ENSP00000417549.1:p.Thr150Ala
ENST00000473073.1:n.405A>G
ENST00000474833.5:n.168+11412A>G
ENST00000475214.5:n.362A>G
ENST00000478469.5:c.448A>G	ENSP00000420759.1:p.Thr150Ala
ENST00000482086.5:c.100A>G	ENSP00000417253.1:p.Thr34Ala
ENST00000483687.5:c.391A>G	ENSP00000420639.1:p.Thr131Ala
ENST00000484181.5:c.448A>G	ENSP00000417937.1:p.Thr150Ala
ENST00000490504.5:c.372+5347A>G	ENSP00000418307.1:n.372+5347A>G
ENST00000494742.5:c.199A>G	ENSP00000418020.1:p.Thr67Ala
NM_000532.4:c.448A>G	NP_000523.2:p.Thr150Ala
NM_001178014.1:c.508A>G	NP_001171485.1:p.Thr170Ala
XM_011512873.1:c.448A>G	XP_011511175.1:p.Thr150Ala
XM_011512873.2:c.448A>G	XP_011511175.1:p.Thr150Ala
NM_000532.5:c.448A>G MANE Select	NP_000523.2:p.Thr150Ala
NM_001178014.2:c.508A>G	NP_001171485.1:p.Thr170Ala