Canonical Allele Identifier: CA2743277178
Gene: PPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40092560_40092561insAGA , CM000663.2:g.40092560_40092561insAGA GRCh38
NC_000001.10:g.40558232_40558233insAGA , CM000663.1:g.40558232_40558233insAGA GRCh37
NC_000001.9:g.40330819_40330820insAGA NCBI36
NG_009192.1:g.9910_9911insTCT , LRG_690:g.9910_9911insTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000372779.9:c.129-54_129-53insTCT ENSP00000361865.5:n.129-54_129-53insTCT
ENST00000433473.8:c.125-57_125-56insTCT ENSP00000394863.4:n.125-57_125-56insTCT
ENST00000439754.6:c.125-54_125-53insTCT ENSP00000403207.2:n.125-54_125-53insTCT
ENST00000449045.7:c.125-3049_125-3048insTCT ENSP00000392293.2:n.125-3049_125-3048insTCT
ENST00000526547.2:c.405-54_405-53insTCT
ENST00000527311.7:c.125-54_125-53insTCT ENSP00000436695.3:n.125-54_125-53insTCT
ENST00000530704.6:c.125-54_125-53insTCT ENSP00000431655.1:n.125-54_125-53insTCT
ENST00000641083.1:c.103-54_103-53insTCT
ENST00000641236.1:n.137-54_137-53insTCT
ENST00000641319.1:c.125-54_125-53insTCT ENSP00000493128.1:n.125-54_125-53insTCT
ENST00000641471.1:c.212-54_212-53insTCT ENSP00000493146.1:n.212-54_212-53insTCT
ENST00000641548.1:c.125-61_125-60insTCT ENSP00000492984.1:n.125-61_125-60insTCT
ENST00000641691.1:c.125-61_125-60insTCT ENSP00000492910.1:n.125-61_125-60insTCT
ENST00000641924.1:c.124+4554_124+4555insTCT ENSP00000493063.1:n.124+4554_124+4555insTCT
ENST00000642050.2:c.125-54_125-53insTCT MANE Select ENSP00000493153.1:n.125-54_125-53insTCT
ENST00000372779.8:c.212-54_212-53insTCT ENSP00000361865.4:n.212-54_212-53insTCT
ENST00000433473.7:c.125-54_125-53insTCT ENSP00000394863.3:n.125-54_125-53insTCT
ENST00000449045.6:c.125-3049_125-3048insTCT ENSP00000392293.2:n.125-3049_125-3048insTCT
ENST00000526547.1:c.-26-54_-26-53insTCT ENSP00000436481.1:n.-26-54_-26-53insTCT
ENST00000527311.6:c.125-504_125-503insTCT ENSP00000436695.2:n.125-504_125-503insTCT
ENST00000529905.5:c.125-54_125-53insTCT ENSP00000432053.1:n.125-54_125-53insTCT
ENST00000530704.5:c.125-54_125-53insTCT ENSP00000431655.1:n.125-54_125-53insTCT
NM_000310.3:c.125-54_125-53insTCT , LRG_690t1:c.125-54_125-53insTCT NP_000301.1:n.125-54_125-53insTCT
NM_001142604.1:c.125-3049_125-3048insTCT NP_001136076.1:n.125-3049_125-3048insTCT
XM_005271008.1:c.125-54_125-53insTCT XP_005271065.1:n.125-54_125-53insTCT
NM_001363695.1:c.125-54_125-53insTCT NP_001350624.1:n.125-54_125-53insTCT
NM_000310.4:c.125-54_125-53insTCT MANE Select NP_000301.1:n.125-54_125-53insTCT
NM_001142604.2:c.125-3049_125-3048insTCT NP_001136076.1:n.125-3049_125-3048insTCT
NM_001363695.2:c.125-54_125-53insTCT NP_001350624.1:n.125-54_125-53insTCT