Canonical Allele Identifier: CA1164243548

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074103A= , CM000663.2:g.40074103A=	GRCh38
NC_000001.10:g.40539775A= , CM000663.1:g.40539775A=	GRCh37
NC_000001.9:g.40312362A=	NCBI36
NG_009192.1:g.28368T= , LRG_690:g.28368T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.876T=	ENSP00000394863.4:p.Ser292=
ENST00000439754.6:c.807T=	ENSP00000403207.2:p.Ser269=
ENST00000449045.7:c.570T=	ENSP00000392293.2:p.Ser190=
ENST00000530076.6:c.222T=	ENSP00000434007.1:p.Ser74=
ENST00000530704.6:c.*502T=	ENSP00000431655.1:n.*502T=
ENST00000641083.1:c.969T=
ENST00000641236.1:n.1116T=
ENST00000641319.1:c.*89T=	ENSP00000493128.1:n.*89T=
ENST00000641381.1:c.301T=
ENST00000641471.1:c.966T=	ENSP00000493146.1:p.Ser322=
ENST00000641691.1:c.*731T=	ENSP00000492910.1:n.*731T=
ENST00000641924.1:c.*308T=	ENSP00000493063.1:n.*308T=
ENST00000642050.2:c.879T= MANE Select	ENSP00000493153.1:p.Ser293=
ENST00000372775.2:n.276T=
ENST00000433473.7:c.879T=	ENSP00000394863.3:p.Ser293=
ENST00000439754.5:c.492T=	ENSP00000403207.1:p.Ser164=
ENST00000449045.6:c.570T=	ENSP00000392293.2:p.Ser190=
ENST00000529905.5:c.879T=	ENSP00000432053.1:p.Ser293=
ENST00000530076.5:c.222T=	ENSP00000434007.1:p.Ser74=
ENST00000530704.5:c.*502T=	ENSP00000431655.1:n.*502T=
NM_000310.3:c.879T= , LRG_690t1:c.879T=	NP_000301.1:p.Ser293=
NM_001142604.1:c.570T=	NP_001136076.1:p.Ser190=
XM_005271008.1:c.807T=	XP_005271065.1:p.Ser269=
NM_001363695.1:c.807T=	NP_001350624.1:p.Ser269=
NM_000310.4:c.879T= MANE Select	NP_000301.1:p.Ser293=
NM_001142604.2:c.570T=	NP_001136076.1:p.Ser190=
NM_001363695.2:c.807T=	NP_001350624.1:p.Ser269=