Canonical Allele Identifier: CA1164252850

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092494G= , CM000663.2:g.40092494G=	GRCh38
NC_000001.10:g.40558166G= , CM000663.1:g.40558166G=	GRCh37
NC_000001.9:g.40330753G=	NCBI36
NG_009192.1:g.9977C= , LRG_690:g.9977C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.142C=	ENSP00000361865.5:p.Gln48=
ENST00000433473.8:c.135C=	ENSP00000394863.4:p.Cys45=
ENST00000439754.6:c.138C=	ENSP00000403207.2:p.Cys46=
ENST00000449045.7:c.125-2982C=	ENSP00000392293.2:n.125-2982C=
ENST00000526547.2:c.418C=
ENST00000527311.7:c.138C=	ENSP00000436695.3:p.Cys46=
ENST00000530704.6:c.138C=	ENSP00000431655.1:p.Cys46=
ENST00000641083.1:c.116C=
ENST00000641236.1:n.150C=
ENST00000641319.1:c.138C=	ENSP00000493128.1:p.Cys46=
ENST00000641471.1:c.225C=	ENSP00000493146.1:p.Cys75=
ENST00000641548.1:c.131C=	ENSP00000492984.1:p.Ala44=
ENST00000641691.1:c.131C=	ENSP00000492910.1:p.Ala44=
ENST00000641924.1:c.124+4621C=	ENSP00000493063.1:n.124+4621C=
ENST00000642050.2:c.138C= MANE Select	ENSP00000493153.1:p.Cys46=
ENST00000372779.8:c.225C=	ENSP00000361865.4:p.Cys75=
ENST00000433473.7:c.138C=	ENSP00000394863.3:p.Cys46=
ENST00000449045.6:c.125-2982C=	ENSP00000392293.2:n.125-2982C=
ENST00000526547.1:c.-13C=	ENSP00000436481.1:n.-13C=
ENST00000527311.6:c.125-437C=	ENSP00000436695.2:n.125-437C=
ENST00000529905.5:c.138C=	ENSP00000432053.1:p.Cys46=
ENST00000530704.5:c.138C=	ENSP00000431655.1:p.Cys46=
NM_000310.3:c.138C= , LRG_690t1:c.138C=	NP_000301.1:p.Cys46=
NM_001142604.1:c.125-2982C=	NP_001136076.1:n.125-2982C=
XM_005271008.1:c.138C=	XP_005271065.1:p.Cys46=
NM_001363695.1:c.138C=	NP_001350624.1:p.Cys46=
NM_000310.4:c.138C= MANE Select	NP_000301.1:p.Cys46=
NM_001142604.2:c.125-2982C=	NP_001136076.1:n.125-2982C=
NM_001363695.2:c.138C=	NP_001350624.1:p.Cys46=