Canonical Allele Identifier: CA1164243519

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074027G= , CM000663.2:g.40074027G=	GRCh38
NC_000001.10:g.40539699G= , CM000663.1:g.40539699G=	GRCh37
NC_000001.9:g.40312286G=	NCBI36
NG_009192.1:g.28444C= , LRG_690:g.28444C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.*34C=	ENSP00000394863.4:n.*34C=
ENST00000439754.6:c.*34C=	ENSP00000403207.2:n.*34C=
ENST00000449045.7:c.*34C=	ENSP00000392293.2:n.*34C=
ENST00000530076.6:c.*34C=	ENSP00000434007.1:n.*34C=
ENST00000530704.6:c.*578C=	ENSP00000431655.1:n.*578C=
ENST00000641083.1:c.1045C=
ENST00000641236.1:n.1192C=
ENST00000641319.1:c.*165C=	ENSP00000493128.1:n.*165C=
ENST00000641381.1:c.377C=
ENST00000641471.1:c.*34C=	ENSP00000493146.1:n.*34C=
ENST00000641691.1:c.*807C=	ENSP00000492910.1:n.*807C=
ENST00000641924.1:c.*384C=	ENSP00000493063.1:n.*384C=
ENST00000642050.2:c.*34C= MANE Select	ENSP00000493153.1:n.*34C=
ENST00000372775.2:n.352C=
ENST00000433473.7:c.*34C=	ENSP00000394863.3:n.*34C=
ENST00000439754.5:c.568C=	ENSP00000403207.1:n.568C=
ENST00000449045.6:c.*34C=	ENSP00000392293.2:n.*34C=
ENST00000529905.5:c.*34C=	ENSP00000432053.1:n.*34C=
ENST00000530704.5:c.*578C=	ENSP00000431655.1:n.*578C=
NM_000310.3:c.*34C= , LRG_690t1:c.*34C=	NP_000301.1:n.*34C=
NM_001142604.1:c.*34C=	NP_001136076.1:n.*34C=
XM_005271008.1:c.*34C=	XP_005271065.1:n.*34C=
NM_001363695.1:c.*34C=	NP_001350624.1:n.*34C=
NM_000310.4:c.*34C= MANE Select	NP_000301.1:n.*34C=
NM_001142604.2:c.*34C=	NP_001136076.1:n.*34C=
NM_001363695.2:c.*34C=	NP_001350624.1:n.*34C=