Canonical Allele Identifier: CA263499
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56190
dbSNP Id: rs386833642
gnomAD v2: 1-40557754-A-C
gnomAD v3: 1-40092082-A-C
gnomAD v4: 1-40092082-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40092082A>C , CM000663.2:g.40092082A>C GRCh38
NC_000001.10:g.40557754A>C , CM000663.1:g.40557754A>C GRCh37
NC_000001.9:g.40330341A>C NCBI36
NG_009192.1:g.10389T>G , LRG_690:g.10389T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372779.9:c.*161T>G ENSP00000361865.5:n.*161T>G
ENST00000433473.8:c.322T>G ENSP00000394863.4:p.Tyr108Asp
ENST00000439754.6:c.325T>G ENSP00000403207.2:p.Tyr109Asp
ENST00000449045.7:c.125-2570T>G ENSP00000392293.2:n.125-2570T>G
ENST00000526547.2:c.605T>G
ENST00000527311.7:c.234+316T>G ENSP00000436695.3:n.234+316T>G
ENST00000530704.6:c.325T>G ENSP00000431655.1:p.Tyr109Asp
ENST00000641083.1:c.303T>G
ENST00000641236.1:n.562T>G
ENST00000641319.1:c.325T>G ENSP00000493128.1:p.Tyr109Asp
ENST00000641471.1:c.412T>G ENSP00000493146.1:p.Tyr138Asp
ENST00000641548.1:c.*177T>G ENSP00000492984.1:n.*177T>G
ENST00000641691.1:c.*177T>G ENSP00000492910.1:n.*177T>G
ENST00000641924.1:c.124+5033T>G ENSP00000493063.1:n.124+5033T>G
ENST00000642050.2:c.325T>G MANE Select ENSP00000493153.1:p.Tyr109Asp
ENST00000372779.8:c.412T>G ENSP00000361865.4:p.Tyr138Asp
ENST00000433473.7:c.325T>G ENSP00000394863.3:p.Tyr109Asp
ENST00000439754.5:c.10T>G ENSP00000403207.1:p.Tyr4Asp
ENST00000449045.6:c.125-2570T>G ENSP00000392293.2:n.125-2570T>G
ENST00000526547.1:c.175T>G ENSP00000436481.1:p.Tyr59Asp
ENST00000527311.6:c.125-25T>G ENSP00000436695.2:n.125-25T>G
ENST00000529905.5:c.325T>G ENSP00000432053.1:p.Tyr109Asp
ENST00000530704.5:c.325T>G ENSP00000431655.1:p.Tyr109Asp
NM_000310.3:c.325T>G , LRG_690t1:c.325T>G NP_000301.1:p.Tyr109Asp
NM_001142604.1:c.125-2570T>G NP_001136076.1:n.125-2570T>G
XM_005271008.1:c.325T>G XP_005271065.1:p.Tyr109Asp
NM_001363695.1:c.325T>G NP_001350624.1:p.Tyr109Asp
NM_000310.4:c.325T>G MANE Select NP_000301.1:p.Tyr109Asp
NM_001142604.2:c.125-2570T>G NP_001136076.1:n.125-2570T>G
NM_001363695.2:c.325T>G NP_001350624.1:p.Tyr109Asp