Canonical Allele Identifier: CA1148009036

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078576T= , CM000663.2:g.40078576T=	GRCh38
NC_000001.10:g.40544248T= , CM000663.1:g.40544248T=	GRCh37
NC_000001.9:g.40316835T=	NCBI36
NG_009192.1:g.23895A= , LRG_690:g.23895A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.707A=	ENSP00000394863.4:p.Asp236=
ENST00000439754.6:c.710A=	ENSP00000403207.2:p.Asp237=
ENST00000449045.7:c.401A=	ENSP00000392293.2:p.Asp134=
ENST00000527311.7:c.479A=	ENSP00000436695.3:p.Asp160=
ENST00000530076.6:c.53A=	ENSP00000434007.1:p.Asp18=
ENST00000530704.6:c.*333A=	ENSP00000431655.1:n.*333A=
ENST00000641083.1:c.688A=
ENST00000641236.1:n.947A=
ENST00000641319.1:c.710A=	ENSP00000493128.1:p.Asp237=
ENST00000641381.1:c.149-1663A=
ENST00000641471.1:c.797A=	ENSP00000493146.1:p.Asp266=
ENST00000641691.1:c.*562A=	ENSP00000492910.1:n.*562A=
ENST00000641924.1:c.*139A=	ENSP00000493063.1:n.*139A=
ENST00000642050.2:c.710A= MANE Select	ENSP00000493153.1:p.Asp237=
ENST00000372775.2:n.107A=
ENST00000372779.8:c.797A=	ENSP00000361865.4:p.Asp266=
ENST00000433473.7:c.710A=	ENSP00000394863.3:p.Asp237=
ENST00000439754.5:c.395A=	ENSP00000403207.1:p.Asp132=
ENST00000449045.6:c.401A=	ENSP00000392293.2:p.Asp134=
ENST00000527311.6:c.485A=	ENSP00000436695.2:p.Asp162=
ENST00000529905.5:c.710A=	ENSP00000432053.1:p.Asp237=
ENST00000530076.5:c.53A=	ENSP00000434007.1:p.Asp18=
ENST00000530704.5:c.*333A=	ENSP00000431655.1:n.*333A=
NM_000310.3:c.710A= , LRG_690t1:c.710A=	NP_000301.1:p.Asp237=
NM_001142604.1:c.401A=	NP_001136076.1:p.Asp134=
XM_005271008.1:c.710A=	XP_005271065.1:p.Asp237=
NM_001363695.1:c.710A=	NP_001350624.1:p.Asp237=
NM_000310.4:c.710A= MANE Select	NP_000301.1:p.Asp237=
NM_001142604.2:c.401A=	NP_001136076.1:p.Asp134=
NM_001363695.2:c.710A=	NP_001350624.1:p.Asp237=