Canonical Allele Identifier: CA339846505

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40076911C>T , CM000663.2:g.40076911C>T	GRCh38
NC_000001.10:g.40542583C>T , CM000663.1:g.40542583C>T	GRCh37
NC_000001.9:g.40315170C>T	NCBI36
NG_009192.1:g.25560G>A , LRG_690:g.25560G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000310.4:c.729G>A MANE Select	NP_000301.1:p.Trp243Ter
ENST00000642050.2:c.729G>A MANE Select	ENSP00000493153.1:p.Trp243Ter
NM_000310.3:c.729G>A , LRG_690t1:c.729G>A	NP_000301.1:p.Trp243Ter
NM_001142604.1:c.420G>A	NP_001136076.1:p.Trp140Ter
NM_001142604.2:c.420G>A	NP_001136076.1:p.Trp140Ter
NM_001363695.1:c.726+1649G>A	NP_001350624.1:n.726+1649G>A
NM_001363695.2:c.726+1649G>A	NP_001350624.1:n.726+1649G>A
ENST00000372775.2:n.126G>A
ENST00000433473.7:c.729G>A	ENSP00000394863.3:p.Trp243Ter
ENST00000433473.8:c.726G>A	ENSP00000394863.4:p.Trp242Ter
ENST00000439754.5:c.411+1649G>A	ENSP00000403207.1:n.411+1649G>A
ENST00000439754.6:c.726+1649G>A	ENSP00000403207.2:n.726+1649G>A
ENST00000449045.6:c.420G>A	ENSP00000392293.2:p.Trp140Ter
ENST00000449045.7:c.420G>A	ENSP00000392293.2:p.Trp140Ter
ENST00000527311.6:c.504G>A	ENSP00000436695.2:p.Trp168Ter
ENST00000527311.7:c.498G>A	ENSP00000436695.3:p.Trp166Ter
ENST00000529905.5:c.729G>A	ENSP00000432053.1:p.Trp243Ter
ENST00000530076.5:c.72G>A	ENSP00000434007.1:p.Trp24Ter
ENST00000530076.6:c.72G>A	ENSP00000434007.1:p.Trp24Ter
ENST00000530704.5:c.*352G>A	ENSP00000431655.1:n.*352G>A
ENST00000530704.6:c.*352G>A	ENSP00000431655.1:n.*352G>A
ENST00000641083.1:c.707G>A
ENST00000641236.1:n.966G>A
ENST00000641319.1:c.729G>A	ENSP00000493128.1:p.Trp243Ter
ENST00000641381.1:c.151G>A
ENST00000641471.1:c.816G>A	ENSP00000493146.1:p.Trp272Ter
ENST00000641691.1:c.*581G>A	ENSP00000492910.1:n.*581G>A
ENST00000641924.1:c.*158G>A	ENSP00000493063.1:n.*158G>A
XM_005271008.1:c.726+1649G>A	XP_005271065.1:n.726+1649G>A