Canonical Allele Identifier: CA339849018
Gene: PPT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40092075G>A , CM000663.2:g.40092075G>A GRCh38
NC_000001.10:g.40557747G>A , CM000663.1:g.40557747G>A GRCh37
NC_000001.9:g.40330334G>A NCBI36
NG_009192.1:g.10396C>T , LRG_690:g.10396C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372779.9:c.*168C>T ENSP00000361865.5:n.*168C>T
ENST00000433473.8:c.329C>T ENSP00000394863.4:p.Ala110Val
ENST00000439754.6:c.332C>T ENSP00000403207.2:p.Ala111Val
ENST00000449045.7:c.125-2563C>T ENSP00000392293.2:n.125-2563C>T
ENST00000526547.2:c.612C>T
ENST00000527311.7:c.234+323C>T ENSP00000436695.3:n.234+323C>T
ENST00000530704.6:c.332C>T ENSP00000431655.1:p.Ala111Val
ENST00000641083.1:c.310C>T
ENST00000641236.1:n.569C>T
ENST00000641319.1:c.332C>T ENSP00000493128.1:p.Ala111Val
ENST00000641471.1:c.419C>T ENSP00000493146.1:p.Ala140Val
ENST00000641548.1:c.*184C>T ENSP00000492984.1:n.*184C>T
ENST00000641691.1:c.*184C>T ENSP00000492910.1:n.*184C>T
ENST00000641924.1:c.124+5040C>T ENSP00000493063.1:n.124+5040C>T
ENST00000642050.2:c.332C>T MANE Select ENSP00000493153.1:p.Ala111Val
ENST00000372779.8:c.419C>T ENSP00000361865.4:p.Ala140Val
ENST00000433473.7:c.332C>T ENSP00000394863.3:p.Ala111Val
ENST00000439754.5:c.17C>T ENSP00000403207.1:p.Ala6Val
ENST00000449045.6:c.125-2563C>T ENSP00000392293.2:n.125-2563C>T
ENST00000526547.1:c.182C>T ENSP00000436481.1:p.Ala61Val
ENST00000527311.6:c.125-18C>T ENSP00000436695.2:n.125-18C>T
ENST00000529905.5:c.332C>T ENSP00000432053.1:p.Ala111Val
ENST00000530704.5:c.332C>T ENSP00000431655.1:p.Ala111Val
NM_000310.3:c.332C>T , LRG_690t1:c.332C>T NP_000301.1:p.Ala111Val
NM_001142604.1:c.125-2563C>T NP_001136076.1:n.125-2563C>T
XM_005271008.1:c.332C>T XP_005271065.1:p.Ala111Val
NM_001363695.1:c.332C>T NP_001350624.1:p.Ala111Val
NM_000310.4:c.332C>T MANE Select NP_000301.1:p.Ala111Val
NM_001142604.2:c.125-2563C>T NP_001136076.1:n.125-2563C>T
NM_001363695.2:c.332C>T NP_001350624.1:p.Ala111Val