Canonical Allele Identifier: CA1164243562

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074142T= , CM000663.2:g.40074142T=	GRCh38
NC_000001.10:g.40539814T= , CM000663.1:g.40539814T=	GRCh37
NC_000001.9:g.40312401T=	NCBI36
NG_009192.1:g.28329A= , LRG_690:g.28329A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.837A=	ENSP00000394863.4:p.Leu279=
ENST00000439754.6:c.768A=	ENSP00000403207.2:p.Leu256=
ENST00000449045.7:c.531A=	ENSP00000392293.2:p.Leu177=
ENST00000527311.7:c.609A=	ENSP00000436695.3:p.Leu203=
ENST00000530076.6:c.183A=	ENSP00000434007.1:p.Leu61=
ENST00000530704.6:c.*463A=	ENSP00000431655.1:n.*463A=
ENST00000641083.1:c.930A=
ENST00000641236.1:n.1077A=
ENST00000641319.1:c.*50A=	ENSP00000493128.1:n.*50A=
ENST00000641381.1:c.262A=
ENST00000641471.1:c.927A=	ENSP00000493146.1:p.Leu309=
ENST00000641691.1:c.*692A=	ENSP00000492910.1:n.*692A=
ENST00000641924.1:c.*269A=	ENSP00000493063.1:n.*269A=
ENST00000642050.2:c.840A= MANE Select	ENSP00000493153.1:p.Leu280=
ENST00000372775.2:n.237A=
ENST00000433473.7:c.840A=	ENSP00000394863.3:p.Leu280=
ENST00000439754.5:c.453A=	ENSP00000403207.1:p.Leu151=
ENST00000449045.6:c.531A=	ENSP00000392293.2:p.Leu177=
ENST00000529905.5:c.840A=	ENSP00000432053.1:p.Leu280=
ENST00000530076.5:c.183A=	ENSP00000434007.1:p.Leu61=
ENST00000530704.5:c.*463A=	ENSP00000431655.1:n.*463A=
NM_000310.3:c.840A= , LRG_690t1:c.840A=	NP_000301.1:p.Leu280=
NM_001142604.1:c.531A=	NP_001136076.1:p.Leu177=
XM_005271008.1:c.768A=	XP_005271065.1:p.Leu256=
NM_001363695.1:c.768A=	NP_001350624.1:p.Leu256=
NM_000310.4:c.840A= MANE Select	NP_000301.1:p.Leu280=
NM_001142604.2:c.531A=	NP_001136076.1:p.Leu177=
NM_001363695.2:c.768A=	NP_001350624.1:p.Leu256=