Canonical Allele Identifier: CA1164252329

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092151A= , CM000663.2:g.40092151A=	GRCh38
NC_000001.10:g.40557823A= , CM000663.1:g.40557823A=	GRCh37
NC_000001.9:g.40330410A=	NCBI36
NG_009192.1:g.10320T= , LRG_690:g.10320T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*92T=	ENSP00000361865.5:n.*92T=
ENST00000433473.8:c.253T=	ENSP00000394863.4:p.Leu85=
ENST00000439754.6:c.256T=	ENSP00000403207.2:p.Leu86=
ENST00000449045.7:c.125-2639T=	ENSP00000392293.2:n.125-2639T=
ENST00000526547.2:c.536T=
ENST00000527311.7:c.234+247T=	ENSP00000436695.3:n.234+247T=
ENST00000530704.6:c.256T=	ENSP00000431655.1:p.Leu86=
ENST00000641083.1:c.234T=
ENST00000641236.1:n.493T=
ENST00000641319.1:c.256T=	ENSP00000493128.1:p.Leu86=
ENST00000641471.1:c.343T=	ENSP00000493146.1:p.Leu115=
ENST00000641548.1:c.*108T=	ENSP00000492984.1:n.*108T=
ENST00000641691.1:c.*108T=	ENSP00000492910.1:n.*108T=
ENST00000641924.1:c.124+4964T=	ENSP00000493063.1:n.124+4964T=
ENST00000642050.2:c.256T= MANE Select	ENSP00000493153.1:p.Leu86=
ENST00000372779.8:c.343T=	ENSP00000361865.4:p.Leu115=
ENST00000433473.7:c.256T=	ENSP00000394863.3:p.Leu86=
ENST00000449045.6:c.125-2639T=	ENSP00000392293.2:n.125-2639T=
ENST00000526547.1:c.106T=	ENSP00000436481.1:p.Leu36=
ENST00000527311.6:c.125-94T=	ENSP00000436695.2:n.125-94T=
ENST00000529905.5:c.256T=	ENSP00000432053.1:p.Leu86=
ENST00000530704.5:c.256T=	ENSP00000431655.1:p.Leu86=
NM_000310.3:c.256T= , LRG_690t1:c.256T=	NP_000301.1:p.Leu86=
NM_001142604.1:c.125-2639T=	NP_001136076.1:n.125-2639T=
XM_005271008.1:c.256T=	XP_005271065.1:p.Leu86=
NM_001363695.1:c.256T=	NP_001350624.1:p.Leu86=
NM_000310.4:c.256T= MANE Select	NP_000301.1:p.Leu86=
NM_001142604.2:c.125-2639T=	NP_001136076.1:n.125-2639T=
NM_001363695.2:c.256T=	NP_001350624.1:p.Leu86=