Canonical Allele Identifier: CA1164252661

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092398C= , CM000663.2:g.40092398C=	GRCh38
NC_000001.10:g.40558070C= , CM000663.1:g.40558070C=	GRCh37
NC_000001.9:g.40330657C=	NCBI36
NG_009192.1:g.10073G= , LRG_690:g.10073G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*70G=	ENSP00000361865.5:n.*70G=
ENST00000433473.8:c.231G=	ENSP00000394863.4:p.Glu77=
ENST00000439754.6:c.234G=	ENSP00000403207.2:p.Glu78=
ENST00000449045.7:c.125-2886G=	ENSP00000392293.2:n.125-2886G=
ENST00000526547.2:c.514G=
ENST00000527311.7:c.234G=	ENSP00000436695.3:p.Glu78=
ENST00000530704.6:c.234G=	ENSP00000431655.1:p.Glu78=
ENST00000641083.1:c.212G=
ENST00000641236.1:n.246G=
ENST00000641319.1:c.234G=	ENSP00000493128.1:p.Glu78=
ENST00000641471.1:c.321G=	ENSP00000493146.1:p.Glu107=
ENST00000641548.1:c.*86G=	ENSP00000492984.1:n.*86G=
ENST00000641691.1:c.*86G=	ENSP00000492910.1:n.*86G=
ENST00000641924.1:c.124+4717G=	ENSP00000493063.1:n.124+4717G=
ENST00000642050.2:c.234G= MANE Select	ENSP00000493153.1:p.Glu78=
ENST00000372779.8:c.321G=	ENSP00000361865.4:p.Glu107=
ENST00000433473.7:c.234G=	ENSP00000394863.3:p.Glu78=
ENST00000449045.6:c.125-2886G=	ENSP00000392293.2:n.125-2886G=
ENST00000526547.1:c.84G=	ENSP00000436481.1:p.Glu28=
ENST00000527311.6:c.125-341G=	ENSP00000436695.2:n.125-341G=
ENST00000529905.5:c.234G=	ENSP00000432053.1:p.Glu78=
ENST00000530704.5:c.234G=	ENSP00000431655.1:p.Glu78=
NM_000310.3:c.234G= , LRG_690t1:c.234G=	NP_000301.1:p.Glu78=
NM_001142604.1:c.125-2886G=	NP_001136076.1:n.125-2886G=
XM_005271008.1:c.234G=	XP_005271065.1:p.Glu78=
NM_001363695.1:c.234G=	NP_001350624.1:p.Glu78=
NM_000310.4:c.234G= MANE Select	NP_000301.1:p.Glu78=
NM_001142604.2:c.125-2886G=	NP_001136076.1:n.125-2886G=
NM_001363695.2:c.234G=	NP_001350624.1:p.Glu78=