Canonical Allele Identifier: CA254577
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 8900
dbSNP Id: rs137852696
gnomAD v2: 1-40558081-T-G
gnomAD v3: 1-40092409-T-G
gnomAD v4: 1-40092409-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40092409T>G , CM000663.2:g.40092409T>G GRCh38
NC_000001.10:g.40558081T>G , CM000663.1:g.40558081T>G GRCh37
NC_000001.9:g.40330668T>G NCBI36
NG_009192.1:g.10062A>C , LRG_690:g.10062A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000372779.9:c.*59A>C ENSP00000361865.5:n.*59A>C
ENST00000433473.8:c.220A>C ENSP00000394863.4:p.Thr74Pro
ENST00000439754.6:c.223A>C ENSP00000403207.2:p.Thr75Pro
ENST00000449045.7:c.125-2897A>C ENSP00000392293.2:n.125-2897A>C
ENST00000526547.2:c.503A>C
ENST00000527311.7:c.223A>C ENSP00000436695.3:p.Thr75Pro
ENST00000530704.6:c.223A>C ENSP00000431655.1:p.Thr75Pro
ENST00000641083.1:c.201A>C
ENST00000641236.1:n.235A>C
ENST00000641319.1:c.223A>C ENSP00000493128.1:p.Thr75Pro
ENST00000641471.1:c.310A>C ENSP00000493146.1:p.Thr104Pro
ENST00000641548.1:c.*75A>C ENSP00000492984.1:n.*75A>C
ENST00000641691.1:c.*75A>C ENSP00000492910.1:n.*75A>C
ENST00000641924.1:c.124+4706A>C ENSP00000493063.1:n.124+4706A>C
ENST00000642050.2:c.223A>C MANE Select ENSP00000493153.1:p.Thr75Pro
ENST00000372779.8:c.310A>C ENSP00000361865.4:p.Thr104Pro
ENST00000433473.7:c.223A>C ENSP00000394863.3:p.Thr75Pro
ENST00000449045.6:c.125-2897A>C ENSP00000392293.2:n.125-2897A>C
ENST00000526547.1:c.73A>C ENSP00000436481.1:p.Thr25Pro
ENST00000527311.6:c.125-352A>C ENSP00000436695.2:n.125-352A>C
ENST00000529905.5:c.223A>C ENSP00000432053.1:p.Thr75Pro
ENST00000530704.5:c.223A>C ENSP00000431655.1:p.Thr75Pro
NM_000310.3:c.223A>C , LRG_690t1:c.223A>C NP_000301.1:p.Thr75Pro
NM_001142604.1:c.125-2897A>C NP_001136076.1:n.125-2897A>C
XM_005271008.1:c.223A>C XP_005271065.1:p.Thr75Pro
NM_001363695.1:c.223A>C NP_001350624.1:p.Thr75Pro
NM_000310.4:c.223A>C MANE Select NP_000301.1:p.Thr75Pro
NM_001142604.2:c.125-2897A>C NP_001136076.1:n.125-2897A>C
NM_001363695.2:c.223A>C NP_001350624.1:p.Thr75Pro