Canonical Allele Identifier: CA1164252121

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092056T= , CM000663.2:g.40092056T=	GRCh38
NC_000001.10:g.40557728T= , CM000663.1:g.40557728T=	GRCh37
NC_000001.9:g.40330315T=	NCBI36
NG_009192.1:g.10415A= , LRG_690:g.10415A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*187A=	ENSP00000361865.5:n.*187A=
ENST00000433473.8:c.348A=	ENSP00000394863.4:p.Gly116=
ENST00000439754.6:c.351A=	ENSP00000403207.2:p.Gly117=
ENST00000449045.7:c.125-2544A=	ENSP00000392293.2:n.125-2544A=
ENST00000526547.2:c.631A=
ENST00000527311.7:c.234+342A=	ENSP00000436695.3:n.234+342A=
ENST00000530704.6:c.351A=	ENSP00000431655.1:p.Gly117=
ENST00000641083.1:c.329A=
ENST00000641236.1:n.588A=
ENST00000641319.1:c.351A=	ENSP00000493128.1:p.Gly117=
ENST00000641471.1:c.438A=	ENSP00000493146.1:p.Gly146=
ENST00000641548.1:c.*203A=	ENSP00000492984.1:n.*203A=
ENST00000641691.1:c.*203A=	ENSP00000492910.1:n.*203A=
ENST00000641924.1:c.124+5059A=	ENSP00000493063.1:n.124+5059A=
ENST00000642050.2:c.351A= MANE Select	ENSP00000493153.1:p.Gly117=
ENST00000372779.8:c.438A=	ENSP00000361865.4:p.Gly146=
ENST00000433473.7:c.351A=	ENSP00000394863.3:p.Gly117=
ENST00000439754.5:c.36A=	ENSP00000403207.1:p.Gly12=
ENST00000449045.6:c.125-2544A=	ENSP00000392293.2:n.125-2544A=
ENST00000526547.1:c.201A=	ENSP00000436481.1:p.Gly67=
ENST00000527311.6:c.126A=	ENSP00000436695.2:p.Gly42=
ENST00000529905.5:c.351A=	ENSP00000432053.1:p.Gly117=
ENST00000530704.5:c.351A=	ENSP00000431655.1:p.Gly117=
NM_000310.3:c.351A= , LRG_690t1:c.351A=	NP_000301.1:p.Gly117=
NM_001142604.1:c.125-2544A=	NP_001136076.1:n.125-2544A=
XM_005271008.1:c.351A=	XP_005271065.1:p.Gly117=
NM_001363695.1:c.351A=	NP_001350624.1:p.Gly117=
NM_000310.4:c.351A= MANE Select	NP_000301.1:p.Gly117=
NM_001142604.2:c.125-2544A=	NP_001136076.1:n.125-2544A=
NM_001363695.2:c.351A=	NP_001350624.1:p.Gly117=