Canonical Allele Identifier: CA1144228734

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092097T= , CM000663.2:g.40092097T=	GRCh38
NC_000001.10:g.40557769T= , CM000663.1:g.40557769T=	GRCh37
NC_000001.9:g.40330356T=	NCBI36
NG_009192.1:g.10374A= , LRG_690:g.10374A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*146A=	ENSP00000361865.5:n.*146A=
ENST00000433473.8:c.307A=	ENSP00000394863.4:p.Lys103=
ENST00000439754.6:c.310A=	ENSP00000403207.2:p.Lys104=
ENST00000449045.7:c.125-2585A=	ENSP00000392293.2:n.125-2585A=
ENST00000526547.2:c.590A=
ENST00000527311.7:c.234+301A=	ENSP00000436695.3:n.234+301A=
ENST00000530704.6:c.310A=	ENSP00000431655.1:p.Lys104=
ENST00000641083.1:c.288A=
ENST00000641236.1:n.547A=
ENST00000641319.1:c.310A=	ENSP00000493128.1:p.Lys104=
ENST00000641471.1:c.397A=	ENSP00000493146.1:p.Lys133=
ENST00000641548.1:c.*162A=	ENSP00000492984.1:n.*162A=
ENST00000641691.1:c.*162A=	ENSP00000492910.1:n.*162A=
ENST00000641924.1:c.124+5018A=	ENSP00000493063.1:n.124+5018A=
ENST00000642050.2:c.310A= MANE Select	ENSP00000493153.1:p.Lys104=
ENST00000372779.8:c.397A=	ENSP00000361865.4:p.Lys133=
ENST00000433473.7:c.310A=	ENSP00000394863.3:p.Lys104=
ENST00000449045.6:c.125-2585A=	ENSP00000392293.2:n.125-2585A=
ENST00000526547.1:c.160A=	ENSP00000436481.1:p.Lys54=
ENST00000527311.6:c.125-40A=	ENSP00000436695.2:n.125-40A=
ENST00000529905.5:c.310A=	ENSP00000432053.1:p.Lys104=
ENST00000530704.5:c.310A=	ENSP00000431655.1:p.Lys104=
NM_000310.3:c.310A= , LRG_690t1:c.310A=	NP_000301.1:p.Lys104=
NM_001142604.1:c.125-2585A=	NP_001136076.1:n.125-2585A=
XM_005271008.1:c.310A=	XP_005271065.1:p.Lys104=
NM_001363695.1:c.310A=	NP_001350624.1:p.Lys104=
NM_000310.4:c.310A= MANE Select	NP_000301.1:p.Lys104=
NM_001142604.2:c.125-2585A=	NP_001136076.1:n.125-2585A=
NM_001363695.2:c.310A=	NP_001350624.1:p.Lys104=