Canonical Allele Identifier: CA2743276867
Gene: PPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40078752_40078753insAGT , CM000663.2:g.40078752_40078753insAGT GRCh38
NC_000001.10:g.40544424_40544425insAGT , CM000663.1:g.40544424_40544425insAGT GRCh37
NC_000001.9:g.40317011_40317012insAGT NCBI36
NG_009192.1:g.23718_23719insACT , LRG_690:g.23718_23719insACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.8:c.625-95_625-94insACT ENSP00000394863.4:n.625-95_625-94insACT
ENST00000439754.6:c.628-95_628-94insACT ENSP00000403207.2:n.628-95_628-94insACT
ENST00000449045.7:c.319-95_319-94insACT ENSP00000392293.2:n.319-95_319-94insACT
ENST00000527311.7:c.397-95_397-94insACT ENSP00000436695.3:n.397-95_397-94insACT
ENST00000530076.6:c.-30-95_-30-94insACT ENSP00000434007.1:n.-30-95_-30-94insACT
ENST00000530704.6:c.*251-95_*251-94insACT ENSP00000431655.1:n.*251-95_*251-94insACT
ENST00000641083.1:c.606-95_606-94insACT
ENST00000641236.1:n.865-95_865-94insACT
ENST00000641319.1:c.628-95_628-94insACT ENSP00000493128.1:n.628-95_628-94insACT
ENST00000641381.1:c.149-1840_149-1839insACT
ENST00000641471.1:c.715-95_715-94insACT ENSP00000493146.1:n.715-95_715-94insACT
ENST00000641691.1:c.*480-95_*480-94insACT ENSP00000492910.1:n.*480-95_*480-94insACT
ENST00000641924.1:c.*57-95_*57-94insACT ENSP00000493063.1:n.*57-95_*57-94insACT
ENST00000642050.2:c.628-95_628-94insACT MANE Select ENSP00000493153.1:n.628-95_628-94insACT
ENST00000372775.2:n.24+59_24+60insACT
ENST00000372779.8:c.715-95_715-94insACT ENSP00000361865.4:n.715-95_715-94insACT
ENST00000433473.7:c.628-95_628-94insACT ENSP00000394863.3:n.628-95_628-94insACT
ENST00000439754.5:c.313-95_313-94insACT ENSP00000403207.1:n.313-95_313-94insACT
ENST00000449045.6:c.319-95_319-94insACT ENSP00000392293.2:n.319-95_319-94insACT
ENST00000527311.6:c.403-95_403-94insACT ENSP00000436695.2:n.403-95_403-94insACT
ENST00000529905.5:c.628-95_628-94insACT ENSP00000432053.1:n.628-95_628-94insACT
ENST00000530076.5:c.-30-95_-30-94insACT ENSP00000434007.1:n.-30-95_-30-94insACT
ENST00000530704.5:c.*251-95_*251-94insACT ENSP00000431655.1:n.*251-95_*251-94insACT
NM_000310.3:c.628-95_628-94insACT , LRG_690t1:c.628-95_628-94insACT NP_000301.1:n.628-95_628-94insACT
NM_001142604.1:c.319-95_319-94insACT NP_001136076.1:n.319-95_319-94insACT
XM_005271008.1:c.628-95_628-94insACT XP_005271065.1:n.628-95_628-94insACT
NM_001363695.1:c.628-95_628-94insACT NP_001350624.1:n.628-95_628-94insACT
NM_000310.4:c.628-95_628-94insACT MANE Select NP_000301.1:n.628-95_628-94insACT
NM_001142604.2:c.319-95_319-94insACT NP_001136076.1:n.319-95_319-94insACT
NM_001363695.2:c.628-95_628-94insACT NP_001350624.1:n.628-95_628-94insACT