Canonical Allele Identifier: CA1141803024

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074126C= , CM000663.2:g.40074126C=	GRCh38
NC_000001.10:g.40539798C= , CM000663.1:g.40539798C=	GRCh37
NC_000001.9:g.40312385C=	NCBI36
NG_009192.1:g.28345G= , LRG_690:g.28345G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.853G=	ENSP00000394863.4:p.Glu285=
ENST00000439754.6:c.784G=	ENSP00000403207.2:p.Glu262=
ENST00000449045.7:c.547G=	ENSP00000392293.2:p.Glu183=
ENST00000530076.6:c.199G=	ENSP00000434007.1:p.Glu67=
ENST00000530704.6:c.*479G=	ENSP00000431655.1:n.*479G=
ENST00000641083.1:c.946G=
ENST00000641236.1:n.1093G=
ENST00000641319.1:c.*66G=	ENSP00000493128.1:n.*66G=
ENST00000641381.1:c.278G=
ENST00000641471.1:c.943G=	ENSP00000493146.1:p.Glu315=
ENST00000641691.1:c.*708G=	ENSP00000492910.1:n.*708G=
ENST00000641924.1:c.*285G=	ENSP00000493063.1:n.*285G=
ENST00000642050.2:c.856G= MANE Select	ENSP00000493153.1:p.Glu286=
ENST00000372775.2:n.253G=
ENST00000433473.7:c.856G=	ENSP00000394863.3:p.Glu286=
ENST00000439754.5:c.469G=	ENSP00000403207.1:p.Glu157=
ENST00000449045.6:c.547G=	ENSP00000392293.2:p.Glu183=
ENST00000529905.5:c.856G=	ENSP00000432053.1:p.Glu286=
ENST00000530076.5:c.199G=	ENSP00000434007.1:p.Glu67=
ENST00000530704.5:c.*479G=	ENSP00000431655.1:n.*479G=
NM_000310.3:c.856G= , LRG_690t1:c.856G=	NP_000301.1:p.Glu286=
NM_001142604.1:c.547G=	NP_001136076.1:p.Glu183=
XM_005271008.1:c.784G=	XP_005271065.1:p.Glu262=
NM_001363695.1:c.784G=	NP_001350624.1:p.Glu262=
NM_000310.4:c.856G= MANE Select	NP_000301.1:p.Glu286=
NM_001142604.2:c.547G=	NP_001136076.1:p.Glu183=
NM_001363695.2:c.784G=	NP_001350624.1:p.Glu262=