Canonical Allele Identifier: CA1164243553

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074119T= , CM000663.2:g.40074119T=	GRCh38
NC_000001.10:g.40539791T= , CM000663.1:g.40539791T=	GRCh37
NC_000001.9:g.40312378T=	NCBI36
NG_009192.1:g.28352A= , LRG_690:g.28352A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.860A=	ENSP00000394863.4:p.Asp287=
ENST00000439754.6:c.791A=	ENSP00000403207.2:p.Asp264=
ENST00000449045.7:c.554A=	ENSP00000392293.2:p.Asp185=
ENST00000530076.6:c.206A=	ENSP00000434007.1:p.Asp69=
ENST00000530704.6:c.*486A=	ENSP00000431655.1:n.*486A=
ENST00000641083.1:c.953A=
ENST00000641236.1:n.1100A=
ENST00000641319.1:c.*73A=	ENSP00000493128.1:n.*73A=
ENST00000641381.1:c.285A=
ENST00000641471.1:c.950A=	ENSP00000493146.1:p.Asp317=
ENST00000641691.1:c.*715A=	ENSP00000492910.1:n.*715A=
ENST00000641924.1:c.*292A=	ENSP00000493063.1:n.*292A=
ENST00000642050.2:c.863A= MANE Select	ENSP00000493153.1:p.Asp288=
ENST00000372775.2:n.260A=
ENST00000433473.7:c.863A=	ENSP00000394863.3:p.Asp288=
ENST00000439754.5:c.476A=	ENSP00000403207.1:p.Asp159=
ENST00000449045.6:c.554A=	ENSP00000392293.2:p.Asp185=
ENST00000529905.5:c.863A=	ENSP00000432053.1:p.Asp288=
ENST00000530076.5:c.206A=	ENSP00000434007.1:p.Asp69=
ENST00000530704.5:c.*486A=	ENSP00000431655.1:n.*486A=
NM_000310.3:c.863A= , LRG_690t1:c.863A=	NP_000301.1:p.Asp288=
NM_001142604.1:c.554A=	NP_001136076.1:p.Asp185=
XM_005271008.1:c.791A=	XP_005271065.1:p.Asp264=
NM_001363695.1:c.791A=	NP_001350624.1:p.Asp264=
NM_000310.4:c.863A= MANE Select	NP_000301.1:p.Asp288=
NM_001142604.2:c.554A=	NP_001136076.1:p.Asp185=
NM_001363695.2:c.791A=	NP_001350624.1:p.Asp264=