Canonical Allele Identifier: CA2743276749
Gene: PPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40091496_40091497insAGT , CM000663.2:g.40091496_40091497insAGT GRCh38
NC_000001.10:g.40557168_40557169insAGT , CM000663.1:g.40557168_40557169insAGT GRCh37
NC_000001.9:g.40329755_40329756insAGT NCBI36
NG_009192.1:g.10974_10975insACT , LRG_690:g.10974_10975insACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000372779.9:c.*199-98_*199-97insACT ENSP00000361865.5:n.*199-98_*199-97insACT
ENST00000433473.8:c.360-98_360-97insACT ENSP00000394863.4:n.360-98_360-97insACT
ENST00000439754.6:c.363-98_363-97insACT ENSP00000403207.2:n.363-98_363-97insACT
ENST00000449045.7:c.125-1985_125-1984insACT ENSP00000392293.2:n.125-1985_125-1984insACT
ENST00000526547.2:c.643-98_643-97insACT
ENST00000527311.7:c.235-98_235-97insACT ENSP00000436695.3:n.235-98_235-97insACT
ENST00000530704.6:c.363-98_363-97insACT ENSP00000431655.1:n.363-98_363-97insACT
ENST00000641083.1:c.341-98_341-97insACT
ENST00000641236.1:n.600-98_600-97insACT
ENST00000641319.1:c.363-98_363-97insACT ENSP00000493128.1:n.363-98_363-97insACT
ENST00000641471.1:c.450-98_450-97insACT ENSP00000493146.1:n.450-98_450-97insACT
ENST00000641548.1:c.*215-98_*215-97insACT ENSP00000492984.1:n.*215-98_*215-97insACT
ENST00000641691.1:c.*215-98_*215-97insACT ENSP00000492910.1:n.*215-98_*215-97insACT
ENST00000641924.1:c.124+5618_124+5619insACT ENSP00000493063.1:n.124+5618_124+5619insACT
ENST00000642050.2:c.363-98_363-97insACT MANE Select ENSP00000493153.1:n.363-98_363-97insACT
ENST00000372779.8:c.450-98_450-97insACT ENSP00000361865.4:n.450-98_450-97insACT
ENST00000433473.7:c.363-98_363-97insACT ENSP00000394863.3:n.363-98_363-97insACT
ENST00000439754.5:c.48-98_48-97insACT ENSP00000403207.1:n.48-98_48-97insACT
ENST00000449045.6:c.125-1985_125-1984insACT ENSP00000392293.2:n.125-1985_125-1984insACT
ENST00000526547.1:c.213-98_213-97insACT ENSP00000436481.1:n.213-98_213-97insACT
ENST00000527311.6:c.138-98_138-97insACT ENSP00000436695.2:n.138-98_138-97insACT
ENST00000529905.5:c.363-98_363-97insACT ENSP00000432053.1:n.363-98_363-97insACT
ENST00000530704.5:c.363-98_363-97insACT ENSP00000431655.1:n.363-98_363-97insACT
NM_000310.3:c.363-98_363-97insACT , LRG_690t1:c.363-98_363-97insACT NP_000301.1:n.363-98_363-97insACT
NM_001142604.1:c.125-1985_125-1984insACT NP_001136076.1:n.125-1985_125-1984insACT
XM_005271008.1:c.363-98_363-97insACT XP_005271065.1:n.363-98_363-97insACT
NM_001363695.1:c.363-98_363-97insACT NP_001350624.1:n.363-98_363-97insACT
NM_000310.4:c.363-98_363-97insACT MANE Select NP_000301.1:n.363-98_363-97insACT
NM_001142604.2:c.125-1985_125-1984insACT NP_001136076.1:n.125-1985_125-1984insACT
NM_001363695.2:c.363-98_363-97insACT NP_001350624.1:n.363-98_363-97insACT