Canonical Allele Identifier: CA1143369369

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074107A= , CM000663.2:g.40074107A=	GRCh38
NC_000001.10:g.40539779A= , CM000663.1:g.40539779A=	GRCh37
NC_000001.9:g.40312366A=	NCBI36
NG_009192.1:g.28364T= , LRG_690:g.28364T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.872T=	ENSP00000394863.4:p.Leu291=
ENST00000439754.6:c.803T=	ENSP00000403207.2:p.Leu268=
ENST00000449045.7:c.566T=	ENSP00000392293.2:p.Leu189=
ENST00000530076.6:c.218T=	ENSP00000434007.1:p.Leu73=
ENST00000530704.6:c.*498T=	ENSP00000431655.1:n.*498T=
ENST00000641083.1:c.965T=
ENST00000641236.1:n.1112T=
ENST00000641319.1:c.*85T=	ENSP00000493128.1:n.*85T=
ENST00000641381.1:c.297T=
ENST00000641471.1:c.962T=	ENSP00000493146.1:p.Leu321=
ENST00000641691.1:c.*727T=	ENSP00000492910.1:n.*727T=
ENST00000641924.1:c.*304T=	ENSP00000493063.1:n.*304T=
ENST00000642050.2:c.875T= MANE Select	ENSP00000493153.1:p.Leu292=
ENST00000372775.2:n.272T=
ENST00000433473.7:c.875T=	ENSP00000394863.3:p.Leu292=
ENST00000439754.5:c.488T=	ENSP00000403207.1:p.Leu163=
ENST00000449045.6:c.566T=	ENSP00000392293.2:p.Leu189=
ENST00000529905.5:c.875T=	ENSP00000432053.1:p.Leu292=
ENST00000530076.5:c.218T=	ENSP00000434007.1:p.Leu73=
ENST00000530704.5:c.*498T=	ENSP00000431655.1:n.*498T=
NM_000310.3:c.875T= , LRG_690t1:c.875T=	NP_000301.1:p.Leu292=
NM_001142604.1:c.566T=	NP_001136076.1:p.Leu189=
XM_005271008.1:c.803T=	XP_005271065.1:p.Leu268=
NM_001363695.1:c.803T=	NP_001350624.1:p.Leu268=
NM_000310.4:c.875T= MANE Select	NP_000301.1:p.Leu292=
NM_001142604.2:c.566T=	NP_001136076.1:p.Leu189=
NM_001363695.2:c.803T=	NP_001350624.1:p.Leu268=