Canonical Allele Identifier: CA1164243543

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074080A= , CM000663.2:g.40074080A=	GRCh38
NC_000001.10:g.40539752A= , CM000663.1:g.40539752A=	GRCh37
NC_000001.9:g.40312339A=	NCBI36
NG_009192.1:g.28391T= , LRG_690:g.28391T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.899T=	ENSP00000394863.4:p.Ile300=
ENST00000439754.6:c.830T=	ENSP00000403207.2:p.Ile277=
ENST00000449045.7:c.593T=	ENSP00000392293.2:p.Ile198=
ENST00000530076.6:c.245T=	ENSP00000434007.1:p.Ile82=
ENST00000530704.6:c.*525T=	ENSP00000431655.1:n.*525T=
ENST00000641083.1:c.992T=
ENST00000641236.1:n.1139T=
ENST00000641319.1:c.*112T=	ENSP00000493128.1:n.*112T=
ENST00000641381.1:c.324T=
ENST00000641471.1:c.989T=	ENSP00000493146.1:p.Ile330=
ENST00000641691.1:c.*754T=	ENSP00000492910.1:n.*754T=
ENST00000641924.1:c.*331T=	ENSP00000493063.1:n.*331T=
ENST00000642050.2:c.902T= MANE Select	ENSP00000493153.1:p.Ile301=
ENST00000372775.2:n.299T=
ENST00000433473.7:c.902T=	ENSP00000394863.3:p.Ile301=
ENST00000439754.5:c.515T=	ENSP00000403207.1:p.Ile172=
ENST00000449045.6:c.593T=	ENSP00000392293.2:p.Ile198=
ENST00000529905.5:c.902T=	ENSP00000432053.1:p.Ile301=
ENST00000530076.5:c.245T=	ENSP00000434007.1:p.Ile82=
ENST00000530704.5:c.*525T=	ENSP00000431655.1:n.*525T=
NM_000310.3:c.902T= , LRG_690t1:c.902T=	NP_000301.1:p.Ile301=
NM_001142604.1:c.593T=	NP_001136076.1:p.Ile198=
XM_005271008.1:c.830T=	XP_005271065.1:p.Ile277=
NM_001363695.1:c.830T=	NP_001350624.1:p.Ile277=
NM_000310.4:c.902T= MANE Select	NP_000301.1:p.Ile301=
NM_001142604.2:c.593T=	NP_001136076.1:p.Ile198=
NM_001363695.2:c.830T=	NP_001350624.1:p.Ile277=