Canonical Allele Identifier: CA1144228735

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074068A= , CM000663.2:g.40074068A=	GRCh38
NC_000001.10:g.40539740A= , CM000663.1:g.40539740A=	GRCh37
NC_000001.9:g.40312327A=	NCBI36
NG_009192.1:g.28403T= , LRG_690:g.28403T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.911T=	ENSP00000394863.4:p.Leu304=
ENST00000439754.6:c.842T=	ENSP00000403207.2:p.Leu281=
ENST00000449045.7:c.605T=	ENSP00000392293.2:p.Leu202=
ENST00000530076.6:c.257T=	ENSP00000434007.1:p.Leu86=
ENST00000530704.6:c.*537T=	ENSP00000431655.1:n.*537T=
ENST00000641083.1:c.1004T=
ENST00000641236.1:n.1151T=
ENST00000641319.1:c.*124T=	ENSP00000493128.1:n.*124T=
ENST00000641381.1:c.336T=
ENST00000641471.1:c.1001T=	ENSP00000493146.1:p.Leu334=
ENST00000641691.1:c.*766T=	ENSP00000492910.1:n.*766T=
ENST00000641924.1:c.*343T=	ENSP00000493063.1:n.*343T=
ENST00000642050.2:c.914T= MANE Select	ENSP00000493153.1:p.Leu305=
ENST00000372775.2:n.311T=
ENST00000433473.7:c.914T=	ENSP00000394863.3:p.Leu305=
ENST00000439754.5:c.527T=	ENSP00000403207.1:p.Leu176=
ENST00000449045.6:c.605T=	ENSP00000392293.2:p.Leu202=
ENST00000529905.5:c.914T=	ENSP00000432053.1:p.Leu305=
ENST00000530076.5:c.257T=	ENSP00000434007.1:p.Leu86=
ENST00000530704.5:c.*537T=	ENSP00000431655.1:n.*537T=
NM_000310.3:c.914T= , LRG_690t1:c.914T=	NP_000301.1:p.Leu305=
NM_001142604.1:c.605T=	NP_001136076.1:p.Leu202=
XM_005271008.1:c.842T=	XP_005271065.1:p.Leu281=
NM_001363695.1:c.842T=	NP_001350624.1:p.Leu281=
NM_000310.4:c.914T= MANE Select	NP_000301.1:p.Leu305=
NM_001142604.2:c.605T=	NP_001136076.1:p.Leu202=
NM_001363695.2:c.842T=	NP_001350624.1:p.Leu281=