Canonical Allele Identifier: CA1144228725

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40089417G= , CM000663.2:g.40089417G=	GRCh38
NC_000001.10:g.40555089G= , CM000663.1:g.40555089G=	GRCh37
NC_000001.9:g.40327676G=	NCBI36
NG_009192.1:g.13054C= , LRG_690:g.13054C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*365C=	ENSP00000361865.5:n.*365C=
ENST00000433473.8:c.526C=	ENSP00000394863.4:p.Gln176=
ENST00000439754.6:c.529C=	ENSP00000403207.2:p.Gln177=
ENST00000449045.7:c.220C=	ENSP00000392293.2:p.Gln74=
ENST00000527311.7:c.305+1912C=	ENSP00000436695.3:n.305+1912C=
ENST00000530704.6:c.*152C=	ENSP00000431655.1:n.*152C=
ENST00000641083.1:c.507C=
ENST00000641236.1:n.766C=
ENST00000641319.1:c.529C=	ENSP00000493128.1:p.Gln177=
ENST00000641381.1:c.141C=
ENST00000641471.1:c.616C=	ENSP00000493146.1:p.Gln206=
ENST00000641691.1:c.*381C=	ENSP00000492910.1:n.*381C=
ENST00000641924.1:c.124+7698C=	ENSP00000493063.1:n.124+7698C=
ENST00000642050.2:c.529C= MANE Select	ENSP00000493153.1:p.Gln177=
ENST00000372779.8:c.616C=	ENSP00000361865.4:p.Gln206=
ENST00000433473.7:c.529C=	ENSP00000394863.3:p.Gln177=
ENST00000439754.5:c.214C=	ENSP00000403207.1:p.Gln72=
ENST00000449045.6:c.220C=	ENSP00000392293.2:p.Gln74=
ENST00000527311.6:c.304C=	ENSP00000436695.2:p.Gln102=
ENST00000529905.5:c.529C=	ENSP00000432053.1:p.Gln177=
ENST00000530704.5:c.*152C=	ENSP00000431655.1:n.*152C=
NM_000310.3:c.529C= , LRG_690t1:c.529C=	NP_000301.1:p.Gln177=
NM_001142604.1:c.220C=	NP_001136076.1:p.Gln74=
XM_005271008.1:c.529C=	XP_005271065.1:p.Gln177=
NM_001363695.1:c.529C=	NP_001350624.1:p.Gln177=
NM_000310.4:c.529C= MANE Select	NP_000301.1:p.Gln177=
NM_001142604.2:c.220C=	NP_001136076.1:p.Gln74=
NM_001363695.2:c.529C=	NP_001350624.1:p.Gln177=