Canonical Allele Identifier: CA1164251386

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091352A= , CM000663.2:g.40091352A=	GRCh38
NC_000001.10:g.40557024A= , CM000663.1:g.40557024A=	GRCh37
NC_000001.9:g.40329611A=	NCBI36
NG_009192.1:g.11119T= , LRG_690:g.11119T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*246T=	ENSP00000361865.5:n.*246T=
ENST00000433473.8:c.407T=	ENSP00000394863.4:p.Ile136=
ENST00000439754.6:c.410T=	ENSP00000403207.2:p.Ile137=
ENST00000449045.7:c.125-1840T=	ENSP00000392293.2:n.125-1840T=
ENST00000526547.2:c.690T=
ENST00000527311.7:c.282T=	ENSP00000436695.3:p.Asp94=
ENST00000530704.6:c.410T=	ENSP00000431655.1:p.Ile137=
ENST00000641083.1:c.388T=
ENST00000641236.1:n.647T=
ENST00000641319.1:c.410T=	ENSP00000493128.1:p.Ile137=
ENST00000641381.1:c.22T=
ENST00000641471.1:c.497T=	ENSP00000493146.1:p.Ile166=
ENST00000641548.1:c.*262T=	ENSP00000492984.1:n.*262T=
ENST00000641691.1:c.*262T=	ENSP00000492910.1:n.*262T=
ENST00000641924.1:c.124+5763T=	ENSP00000493063.1:n.124+5763T=
ENST00000642050.2:c.410T= MANE Select	ENSP00000493153.1:p.Ile137=
ENST00000372779.8:c.497T=	ENSP00000361865.4:p.Ile166=
ENST00000433473.7:c.410T=	ENSP00000394863.3:p.Ile137=
ENST00000439754.5:c.95T=	ENSP00000403207.1:p.Ile32=
ENST00000449045.6:c.125-1840T=	ENSP00000392293.2:n.125-1840T=
ENST00000526547.1:c.260T=	ENSP00000436481.1:p.Ile87=
ENST00000527311.6:c.185T=	ENSP00000436695.2:p.Ile62=
ENST00000529905.5:c.410T=	ENSP00000432053.1:p.Ile137=
ENST00000530704.5:c.410T=	ENSP00000431655.1:p.Ile137=
NM_000310.3:c.410T= , LRG_690t1:c.410T=	NP_000301.1:p.Ile137=
NM_001142604.1:c.125-1840T=	NP_001136076.1:n.125-1840T=
XM_005271008.1:c.410T=	XP_005271065.1:p.Ile137=
NM_001363695.1:c.410T=	NP_001350624.1:p.Ile137=
NM_000310.4:c.410T= MANE Select	NP_000301.1:p.Ile137=
NM_001142604.2:c.125-1840T=	NP_001136076.1:n.125-1840T=
NM_001363695.2:c.410T=	NP_001350624.1:p.Ile137=