Canonical Allele Identifier: CA1164252141

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092066A= , CM000663.2:g.40092066A=	GRCh38
NC_000001.10:g.40557738A= , CM000663.1:g.40557738A=	GRCh37
NC_000001.9:g.40330325A=	NCBI36
NG_009192.1:g.10405T= , LRG_690:g.10405T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*177T=	ENSP00000361865.5:n.*177T=
ENST00000433473.8:c.338T=	ENSP00000394863.4:p.Phe113=
ENST00000439754.6:c.341T=	ENSP00000403207.2:p.Phe114=
ENST00000449045.7:c.125-2554T=	ENSP00000392293.2:n.125-2554T=
ENST00000526547.2:c.621T=
ENST00000527311.7:c.234+332T=	ENSP00000436695.3:n.234+332T=
ENST00000530704.6:c.341T=	ENSP00000431655.1:p.Phe114=
ENST00000641083.1:c.319T=
ENST00000641236.1:n.578T=
ENST00000641319.1:c.341T=	ENSP00000493128.1:p.Phe114=
ENST00000641471.1:c.428T=	ENSP00000493146.1:p.Phe143=
ENST00000641548.1:c.*193T=	ENSP00000492984.1:n.*193T=
ENST00000641691.1:c.*193T=	ENSP00000492910.1:n.*193T=
ENST00000641924.1:c.124+5049T=	ENSP00000493063.1:n.124+5049T=
ENST00000642050.2:c.341T= MANE Select	ENSP00000493153.1:p.Phe114=
ENST00000372779.8:c.428T=	ENSP00000361865.4:p.Phe143=
ENST00000433473.7:c.341T=	ENSP00000394863.3:p.Phe114=
ENST00000439754.5:c.26T=	ENSP00000403207.1:p.Phe9=
ENST00000449045.6:c.125-2554T=	ENSP00000392293.2:n.125-2554T=
ENST00000526547.1:c.191T=	ENSP00000436481.1:p.Phe64=
ENST00000527311.6:c.125-9T=	ENSP00000436695.2:n.125-9T=
ENST00000529905.5:c.341T=	ENSP00000432053.1:p.Phe114=
ENST00000530704.5:c.341T=	ENSP00000431655.1:p.Phe114=
NM_000310.3:c.341T= , LRG_690t1:c.341T=	NP_000301.1:p.Phe114=
NM_001142604.1:c.125-2554T=	NP_001136076.1:n.125-2554T=
XM_005271008.1:c.341T=	XP_005271065.1:p.Phe114=
NM_001363695.1:c.341T=	NP_001350624.1:p.Phe114=
NM_000310.4:c.341T= MANE Select	NP_000301.1:p.Phe114=
NM_001142604.2:c.125-2554T=	NP_001136076.1:n.125-2554T=
NM_001363695.2:c.341T=	NP_001350624.1:p.Phe114=