Canonical Allele Identifier: CA1164252190

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092084C= , CM000663.2:g.40092084C=	GRCh38
NC_000001.10:g.40557756C= , CM000663.1:g.40557756C=	GRCh37
NC_000001.9:g.40330343C=	NCBI36
NG_009192.1:g.10387G= , LRG_690:g.10387G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*159G=	ENSP00000361865.5:n.*159G=
ENST00000433473.8:c.320G=	ENSP00000394863.4:p.Gly107=
ENST00000439754.6:c.323G=	ENSP00000403207.2:p.Gly108=
ENST00000449045.7:c.125-2572G=	ENSP00000392293.2:n.125-2572G=
ENST00000526547.2:c.603G=
ENST00000527311.7:c.234+314G=	ENSP00000436695.3:n.234+314G=
ENST00000530704.6:c.323G=	ENSP00000431655.1:p.Gly108=
ENST00000641083.1:c.301G=
ENST00000641236.1:n.560G=
ENST00000641319.1:c.323G=	ENSP00000493128.1:p.Gly108=
ENST00000641471.1:c.410G=	ENSP00000493146.1:p.Gly137=
ENST00000641548.1:c.*175G=	ENSP00000492984.1:n.*175G=
ENST00000641691.1:c.*175G=	ENSP00000492910.1:n.*175G=
ENST00000641924.1:c.124+5031G=	ENSP00000493063.1:n.124+5031G=
ENST00000642050.2:c.323G= MANE Select	ENSP00000493153.1:p.Gly108=
ENST00000372779.8:c.410G=	ENSP00000361865.4:p.Gly137=
ENST00000433473.7:c.323G=	ENSP00000394863.3:p.Gly108=
ENST00000439754.5:c.8G=	ENSP00000403207.1:p.Gly3=
ENST00000449045.6:c.125-2572G=	ENSP00000392293.2:n.125-2572G=
ENST00000526547.1:c.173G=	ENSP00000436481.1:p.Gly58=
ENST00000527311.6:c.125-27G=	ENSP00000436695.2:n.125-27G=
ENST00000529905.5:c.323G=	ENSP00000432053.1:p.Gly108=
ENST00000530704.5:c.323G=	ENSP00000431655.1:p.Gly108=
NM_000310.3:c.323G= , LRG_690t1:c.323G=	NP_000301.1:p.Gly108=
NM_001142604.1:c.125-2572G=	NP_001136076.1:n.125-2572G=
XM_005271008.1:c.323G=	XP_005271065.1:p.Gly108=
NM_001363695.1:c.323G=	NP_001350624.1:p.Gly108=
NM_000310.4:c.323G= MANE Select	NP_000301.1:p.Gly108=
NM_001142604.2:c.125-2572G=	NP_001136076.1:n.125-2572G=
NM_001363695.2:c.323G=	NP_001350624.1:p.Gly108=