Canonical Allele Identifier: CA1164252726

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092447_40092448delinsAT , CM000663.2:g.40092447_40092448delinsAT	GRCh38
NC_000001.10:g.40558119_40558120delinsAT , CM000663.1:g.40558119_40558120delinsAT	GRCh37
NC_000001.9:g.40330706_40330707delinsAT	NCBI36
NG_009192.1:g.10023_10024delinsAT , LRG_690:g.10023_10024delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*20_*21delinsAT	ENSP00000361865.5:n.*20_*21delinsAT
ENST00000433473.8:c.181_182delinsAT	ENSP00000394863.4:p.Ile61=
ENST00000439754.6:c.184_185delinsAT	ENSP00000403207.2:p.Ile62=
ENST00000449045.7:c.125-2936_125-2935delinsAT	ENSP00000392293.2:n.125-2936_125-2935delinsAT
ENST00000526547.2:c.464_465delinsAT
ENST00000527311.7:c.184_185delinsAT	ENSP00000436695.3:p.Ile62=
ENST00000530704.6:c.184_185delinsAT	ENSP00000431655.1:p.Ile62=
ENST00000641083.1:c.162_163delinsAT
ENST00000641236.1:n.196_197delinsAT
ENST00000641319.1:c.184_185delinsAT	ENSP00000493128.1:p.Ile62=
ENST00000641471.1:c.271_272delinsAT	ENSP00000493146.1:p.Ile91=
ENST00000641548.1:c.*36_*37delinsAT	ENSP00000492984.1:n.*36_*37delinsAT
ENST00000641691.1:c.*36_*37delinsAT	ENSP00000492910.1:n.*36_*37delinsAT
ENST00000641924.1:c.124+4667_124+4668delinsAT	ENSP00000493063.1:n.124+4667_124+4668delinsAT
ENST00000642050.2:c.184_185delinsAT MANE Select	ENSP00000493153.1:p.Ile62=
ENST00000372779.8:c.271_272delinsAT	ENSP00000361865.4:p.Ile91=
ENST00000433473.7:c.184_185delinsAT	ENSP00000394863.3:p.Ile62=
ENST00000449045.6:c.125-2936_125-2935delinsAT	ENSP00000392293.2:n.125-2936_125-2935delinsAT
ENST00000526547.1:c.34_35delinsAT	ENSP00000436481.1:p.Ile12=
ENST00000527311.6:c.125-391_125-390delinsAT	ENSP00000436695.2:n.125-391_125-390delinsAT
ENST00000529905.5:c.184_185delinsAT	ENSP00000432053.1:p.Ile62=
ENST00000530704.5:c.184_185delinsAT	ENSP00000431655.1:p.Ile62=
NM_000310.3:c.184_185delinsAT , LRG_690t1:c.184_185delinsAT	NP_000301.1:p.Ile62=
NM_001142604.1:c.125-2936_125-2935delinsAT	NP_001136076.1:n.125-2936_125-2935delinsAT
XM_005271008.1:c.184_185delinsAT	XP_005271065.1:p.Ile62=
NM_001363695.1:c.184_185delinsAT	NP_001350624.1:p.Ile62=
NM_000310.4:c.184_185delinsAT MANE Select	NP_000301.1:p.Ile62=
NM_001142604.2:c.125-2936_125-2935delinsAT	NP_001136076.1:n.125-2936_125-2935delinsAT
NM_001363695.2:c.184_185delinsAT	NP_001350624.1:p.Ile62=