Canonical Allele Identifier: CA1164243544

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074086G= , CM000663.2:g.40074086G=	GRCh38
NC_000001.10:g.40539758G= , CM000663.1:g.40539758G=	GRCh37
NC_000001.9:g.40312345G=	NCBI36
NG_009192.1:g.28385C= , LRG_690:g.28385C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.893C=	ENSP00000394863.4:p.Ala298=
ENST00000439754.6:c.824C=	ENSP00000403207.2:p.Ala275=
ENST00000449045.7:c.587C=	ENSP00000392293.2:p.Ala196=
ENST00000530076.6:c.239C=	ENSP00000434007.1:p.Ala80=
ENST00000530704.6:c.*519C=	ENSP00000431655.1:n.*519C=
ENST00000641083.1:c.986C=
ENST00000641236.1:n.1133C=
ENST00000641319.1:c.*106C=	ENSP00000493128.1:n.*106C=
ENST00000641381.1:c.318C=
ENST00000641471.1:c.983C=	ENSP00000493146.1:p.Ala328=
ENST00000641691.1:c.*748C=	ENSP00000492910.1:n.*748C=
ENST00000641924.1:c.*325C=	ENSP00000493063.1:n.*325C=
ENST00000642050.2:c.896C= MANE Select	ENSP00000493153.1:p.Ala299=
ENST00000372775.2:n.293C=
ENST00000433473.7:c.896C=	ENSP00000394863.3:p.Ala299=
ENST00000439754.5:c.509C=	ENSP00000403207.1:p.Ala170=
ENST00000449045.6:c.587C=	ENSP00000392293.2:p.Ala196=
ENST00000529905.5:c.896C=	ENSP00000432053.1:p.Ala299=
ENST00000530076.5:c.239C=	ENSP00000434007.1:p.Ala80=
ENST00000530704.5:c.*519C=	ENSP00000431655.1:n.*519C=
NM_000310.3:c.896C= , LRG_690t1:c.896C=	NP_000301.1:p.Ala299=
NM_001142604.1:c.587C=	NP_001136076.1:p.Ala196=
XM_005271008.1:c.824C=	XP_005271065.1:p.Ala275=
NM_001363695.1:c.824C=	NP_001350624.1:p.Ala275=
NM_000310.4:c.896C= MANE Select	NP_000301.1:p.Ala299=
NM_001142604.2:c.587C=	NP_001136076.1:p.Ala196=
NM_001363695.2:c.824C=	NP_001350624.1:p.Ala275=