Canonical Allele Identifier: CA339850209
Gene: PPT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40092499A>C , CM000663.2:g.40092499A>C GRCh38
NC_000001.10:g.40558171A>C , CM000663.1:g.40558171A>C GRCh37
NC_000001.9:g.40330758A>C NCBI36
NG_009192.1:g.9972T>G , LRG_690:g.9972T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372779.9:c.137T>G ENSP00000361865.5:p.Leu46Arg
ENST00000433473.8:c.130T>G ENSP00000394863.4:p.Cys44Gly
ENST00000439754.6:c.133T>G ENSP00000403207.2:p.Cys45Gly
ENST00000449045.7:c.125-2987T>G ENSP00000392293.2:n.125-2987T>G
ENST00000526547.2:c.413T>G
ENST00000527311.7:c.133T>G ENSP00000436695.3:p.Cys45Gly
ENST00000530704.6:c.133T>G ENSP00000431655.1:p.Cys45Gly
ENST00000641083.1:c.111T>G
ENST00000641236.1:n.145T>G
ENST00000641319.1:c.133T>G ENSP00000493128.1:p.Cys45Gly
ENST00000641471.1:c.220T>G ENSP00000493146.1:p.Cys74Gly
ENST00000641548.1:c.126T>G ENSP00000492984.1:p.Ala42=
ENST00000641691.1:c.126T>G ENSP00000492910.1:p.Ala42=
ENST00000641924.1:c.124+4616T>G ENSP00000493063.1:n.124+4616T>G
ENST00000642050.2:c.133T>G MANE Select ENSP00000493153.1:p.Cys45Gly
ENST00000372779.8:c.220T>G ENSP00000361865.4:p.Cys74Gly
ENST00000433473.7:c.133T>G ENSP00000394863.3:p.Cys45Gly
ENST00000449045.6:c.125-2987T>G ENSP00000392293.2:n.125-2987T>G
ENST00000526547.1:c.-18T>G ENSP00000436481.1:n.-18T>G
ENST00000527311.6:c.125-442T>G ENSP00000436695.2:n.125-442T>G
ENST00000529905.5:c.133T>G ENSP00000432053.1:p.Cys45Gly
ENST00000530704.5:c.133T>G ENSP00000431655.1:p.Cys45Gly
NM_000310.3:c.133T>G , LRG_690t1:c.133T>G NP_000301.1:p.Cys45Gly
NM_001142604.1:c.125-2987T>G NP_001136076.1:n.125-2987T>G
XM_005271008.1:c.133T>G XP_005271065.1:p.Cys45Gly
NM_001363695.1:c.133T>G NP_001350624.1:p.Cys45Gly
NM_000310.4:c.133T>G MANE Select NP_000301.1:p.Cys45Gly
NM_001142604.2:c.125-2987T>G NP_001136076.1:n.125-2987T>G
NM_001363695.2:c.133T>G NP_001350624.1:p.Cys45Gly