Canonical Allele Identifier: CA339848811
Gene: PPT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40091335G>C , CM000663.2:g.40091335G>C GRCh38
NC_000001.10:g.40557007G>C , CM000663.1:g.40557007G>C GRCh37
NC_000001.9:g.40329594G>C NCBI36
NG_009192.1:g.11136C>G , LRG_690:g.11136C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372779.9:c.*263C>G ENSP00000361865.5:n.*263C>G
ENST00000433473.8:c.424C>G ENSP00000394863.4:p.His142Asp
ENST00000439754.6:c.427C>G ENSP00000403207.2:p.His143Asp
ENST00000449045.7:c.125-1823C>G ENSP00000392293.2:n.125-1823C>G
ENST00000526547.2:c.707C>G
ENST00000527311.7:c.299C>G ENSP00000436695.3:p.Thr100Arg
ENST00000530704.6:c.427C>G ENSP00000431655.1:p.His143Asp
ENST00000641083.1:c.405C>G
ENST00000641236.1:n.664C>G
ENST00000641319.1:c.427C>G ENSP00000493128.1:p.His143Asp
ENST00000641381.1:c.39C>G
ENST00000641471.1:c.514C>G ENSP00000493146.1:p.His172Asp
ENST00000641548.1:c.*279C>G ENSP00000492984.1:n.*279C>G
ENST00000641691.1:c.*279C>G ENSP00000492910.1:n.*279C>G
ENST00000641924.1:c.124+5780C>G ENSP00000493063.1:n.124+5780C>G
ENST00000642050.2:c.427C>G MANE Select ENSP00000493153.1:p.His143Asp
ENST00000372779.8:c.514C>G ENSP00000361865.4:p.His172Asp
ENST00000433473.7:c.427C>G ENSP00000394863.3:p.His143Asp
ENST00000439754.5:c.112C>G ENSP00000403207.1:p.His38Asp
ENST00000449045.6:c.125-1823C>G ENSP00000392293.2:n.125-1823C>G
ENST00000526547.1:c.277C>G ENSP00000436481.1:p.His93Asp
ENST00000527311.6:c.202C>G ENSP00000436695.2:p.His68Asp
ENST00000529905.5:c.427C>G ENSP00000432053.1:p.His143Asp
ENST00000530704.5:c.427C>G ENSP00000431655.1:p.His143Asp
NM_000310.3:c.427C>G , LRG_690t1:c.427C>G NP_000301.1:p.His143Asp
NM_001142604.1:c.125-1823C>G NP_001136076.1:n.125-1823C>G
XM_005271008.1:c.427C>G XP_005271065.1:p.His143Asp
NM_001363695.1:c.427C>G NP_001350624.1:p.His143Asp
NM_000310.4:c.427C>G MANE Select NP_000301.1:p.His143Asp
NM_001142604.2:c.125-1823C>G NP_001136076.1:n.125-1823C>G
NM_001363695.2:c.427C>G NP_001350624.1:p.His143Asp