Canonical Allele Identifier: CA1164251392

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091356G= , CM000663.2:g.40091356G=	GRCh38
NC_000001.10:g.40557028G= , CM000663.1:g.40557028G=	GRCh37
NC_000001.9:g.40329615G=	NCBI36
NG_009192.1:g.11115C= , LRG_690:g.11115C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*242C=	ENSP00000361865.5:n.*242C=
ENST00000433473.8:c.403C=	ENSP00000394863.4:p.Leu135=
ENST00000439754.6:c.406C=	ENSP00000403207.2:p.Leu136=
ENST00000449045.7:c.125-1844C=	ENSP00000392293.2:n.125-1844C=
ENST00000526547.2:c.686C=
ENST00000527311.7:c.278C=	ENSP00000436695.3:p.Ser93=
ENST00000530704.6:c.406C=	ENSP00000431655.1:p.Leu136=
ENST00000641083.1:c.384C=
ENST00000641236.1:n.643C=
ENST00000641319.1:c.406C=	ENSP00000493128.1:p.Leu136=
ENST00000641381.1:c.18C=
ENST00000641471.1:c.493C=	ENSP00000493146.1:p.Leu165=
ENST00000641548.1:c.*258C=	ENSP00000492984.1:n.*258C=
ENST00000641691.1:c.*258C=	ENSP00000492910.1:n.*258C=
ENST00000641924.1:c.124+5759C=	ENSP00000493063.1:n.124+5759C=
ENST00000642050.2:c.406C= MANE Select	ENSP00000493153.1:p.Leu136=
ENST00000372779.8:c.493C=	ENSP00000361865.4:p.Leu165=
ENST00000433473.7:c.406C=	ENSP00000394863.3:p.Leu136=
ENST00000439754.5:c.91C=	ENSP00000403207.1:p.Leu31=
ENST00000449045.6:c.125-1844C=	ENSP00000392293.2:n.125-1844C=
ENST00000526547.1:c.256C=	ENSP00000436481.1:p.Leu86=
ENST00000527311.6:c.181C=	ENSP00000436695.2:p.Leu61=
ENST00000529905.5:c.406C=	ENSP00000432053.1:p.Leu136=
ENST00000530704.5:c.406C=	ENSP00000431655.1:p.Leu136=
NM_000310.3:c.406C= , LRG_690t1:c.406C=	NP_000301.1:p.Leu136=
NM_001142604.1:c.125-1844C=	NP_001136076.1:n.125-1844C=
XM_005271008.1:c.406C=	XP_005271065.1:p.Leu136=
NM_001363695.1:c.406C=	NP_001350624.1:p.Leu136=
NM_000310.4:c.406C= MANE Select	NP_000301.1:p.Leu136=
NM_001142604.2:c.125-1844C=	NP_001136076.1:n.125-1844C=
NM_001363695.2:c.406C=	NP_001350624.1:p.Leu136=