Canonical Allele Identifier: CA2743276836
Gene: PPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40091527_40091528insAGT , CM000663.2:g.40091527_40091528insAGT GRCh38
NC_000001.10:g.40557199_40557200insAGT , CM000663.1:g.40557199_40557200insAGT GRCh37
NC_000001.9:g.40329786_40329787insAGT NCBI36
NG_009192.1:g.10943_10944insACT , LRG_690:g.10943_10944insACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000372779.9:c.*199-129_*199-128insACT ENSP00000361865.5:n.*199-129_*199-128insACT
ENST00000433473.8:c.360-129_360-128insACT ENSP00000394863.4:n.360-129_360-128insACT
ENST00000439754.6:c.363-129_363-128insACT ENSP00000403207.2:n.363-129_363-128insACT
ENST00000449045.7:c.125-2016_125-2015insACT ENSP00000392293.2:n.125-2016_125-2015insACT
ENST00000526547.2:c.643-129_643-128insACT
ENST00000527311.7:c.235-129_235-128insACT ENSP00000436695.3:n.235-129_235-128insACT
ENST00000530704.6:c.363-129_363-128insACT ENSP00000431655.1:n.363-129_363-128insACT
ENST00000641083.1:c.341-129_341-128insACT
ENST00000641236.1:n.600-129_600-128insACT
ENST00000641319.1:c.363-129_363-128insACT ENSP00000493128.1:n.363-129_363-128insACT
ENST00000641471.1:c.450-129_450-128insACT ENSP00000493146.1:n.450-129_450-128insACT
ENST00000641548.1:c.*215-129_*215-128insACT ENSP00000492984.1:n.*215-129_*215-128insACT
ENST00000641691.1:c.*215-129_*215-128insACT ENSP00000492910.1:n.*215-129_*215-128insACT
ENST00000641924.1:c.124+5587_124+5588insACT ENSP00000493063.1:n.124+5587_124+5588insACT
ENST00000642050.2:c.363-129_363-128insACT MANE Select ENSP00000493153.1:n.363-129_363-128insACT
ENST00000372779.8:c.450-129_450-128insACT ENSP00000361865.4:n.450-129_450-128insACT
ENST00000433473.7:c.363-129_363-128insACT ENSP00000394863.3:n.363-129_363-128insACT
ENST00000439754.5:c.48-129_48-128insACT ENSP00000403207.1:n.48-129_48-128insACT
ENST00000449045.6:c.125-2016_125-2015insACT ENSP00000392293.2:n.125-2016_125-2015insACT
ENST00000526547.1:c.213-129_213-128insACT ENSP00000436481.1:n.213-129_213-128insACT
ENST00000527311.6:c.138-129_138-128insACT ENSP00000436695.2:n.138-129_138-128insACT
ENST00000529905.5:c.363-129_363-128insACT ENSP00000432053.1:n.363-129_363-128insACT
ENST00000530704.5:c.363-129_363-128insACT ENSP00000431655.1:n.363-129_363-128insACT
NM_000310.3:c.363-129_363-128insACT , LRG_690t1:c.363-129_363-128insACT NP_000301.1:n.363-129_363-128insACT
NM_001142604.1:c.125-2016_125-2015insACT NP_001136076.1:n.125-2016_125-2015insACT
XM_005271008.1:c.363-129_363-128insACT XP_005271065.1:n.363-129_363-128insACT
NM_001363695.1:c.363-129_363-128insACT NP_001350624.1:n.363-129_363-128insACT
NM_000310.4:c.363-129_363-128insACT MANE Select NP_000301.1:n.363-129_363-128insACT
NM_001142604.2:c.125-2016_125-2015insACT NP_001136076.1:n.125-2016_125-2015insACT
NM_001363695.2:c.363-129_363-128insACT NP_001350624.1:n.363-129_363-128insACT