Canonical Allele Identifier: CA339846457

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40076891C>T , CM000663.2:g.40076891C>T	GRCh38
NC_000001.10:g.40542563C>T , CM000663.1:g.40542563C>T	GRCh37
NC_000001.9:g.40315150C>T	NCBI36
NG_009192.1:g.25580G>A , LRG_690:g.25580G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000310.4:c.749G>A MANE Select	NP_000301.1:p.Gly250Asp
ENST00000642050.2:c.749G>A MANE Select	ENSP00000493153.1:p.Gly250Asp
NM_000310.3:c.749G>A , LRG_690t1:c.749G>A	NP_000301.1:p.Gly250Asp
NM_001142604.1:c.440G>A	NP_001136076.1:p.Gly147Asp
NM_001142604.2:c.440G>A	NP_001136076.1:p.Gly147Asp
NM_001363695.1:c.726+1669G>A	NP_001350624.1:n.726+1669G>A
NM_001363695.2:c.726+1669G>A	NP_001350624.1:n.726+1669G>A
ENST00000372775.2:n.146G>A
ENST00000433473.7:c.749G>A	ENSP00000394863.3:p.Gly250Asp
ENST00000433473.8:c.746G>A	ENSP00000394863.4:p.Gly249Asp
ENST00000439754.5:c.411+1669G>A	ENSP00000403207.1:n.411+1669G>A
ENST00000439754.6:c.726+1669G>A	ENSP00000403207.2:n.726+1669G>A
ENST00000449045.6:c.440G>A	ENSP00000392293.2:p.Gly147Asp
ENST00000449045.7:c.440G>A	ENSP00000392293.2:p.Gly147Asp
ENST00000527311.6:c.524G>A	ENSP00000436695.2:p.Gly175Asp
ENST00000527311.7:c.518G>A	ENSP00000436695.3:p.Gly173Asp
ENST00000529905.5:c.749G>A	ENSP00000432053.1:p.Gly250Asp
ENST00000530076.5:c.92G>A	ENSP00000434007.1:p.Gly31Asp
ENST00000530076.6:c.92G>A	ENSP00000434007.1:p.Gly31Asp
ENST00000530704.5:c.*372G>A	ENSP00000431655.1:n.*372G>A
ENST00000530704.6:c.*372G>A	ENSP00000431655.1:n.*372G>A
ENST00000641083.1:c.727G>A
ENST00000641236.1:n.986G>A
ENST00000641319.1:c.749G>A	ENSP00000493128.1:p.Gly250Asp
ENST00000641381.1:c.171G>A
ENST00000641471.1:c.836G>A	ENSP00000493146.1:p.Gly279Asp
ENST00000641691.1:c.*601G>A	ENSP00000492910.1:n.*601G>A
ENST00000641924.1:c.*178G>A	ENSP00000493063.1:n.*178G>A
XM_005271008.1:c.726+1669G>A	XP_005271065.1:n.726+1669G>A