Canonical Allele Identifier: CA339849831
Gene: PPT1 HGNC NCBI

Linked Data

gnomAD v4: 1-40092447-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40092447A>G , CM000663.2:g.40092447A>G GRCh38
NC_000001.10:g.40558119A>G , CM000663.1:g.40558119A>G GRCh37
NC_000001.9:g.40330706A>G NCBI36
NG_009192.1:g.10024T>C , LRG_690:g.10024T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372779.9:c.*21T>C ENSP00000361865.5:n.*21T>C
ENST00000433473.8:c.182T>C ENSP00000394863.4:p.Ile61Thr
ENST00000439754.6:c.185T>C ENSP00000403207.2:p.Ile62Thr
ENST00000449045.7:c.125-2935T>C ENSP00000392293.2:n.125-2935T>C
ENST00000526547.2:c.465T>C
ENST00000527311.7:c.185T>C ENSP00000436695.3:p.Ile62Thr
ENST00000530704.6:c.185T>C ENSP00000431655.1:p.Ile62Thr
ENST00000641083.1:c.163T>C
ENST00000641236.1:n.197T>C
ENST00000641319.1:c.185T>C ENSP00000493128.1:p.Ile62Thr
ENST00000641471.1:c.272T>C ENSP00000493146.1:p.Ile91Thr
ENST00000641548.1:c.*37T>C ENSP00000492984.1:n.*37T>C
ENST00000641691.1:c.*37T>C ENSP00000492910.1:n.*37T>C
ENST00000641924.1:c.124+4668T>C ENSP00000493063.1:n.124+4668T>C
ENST00000642050.2:c.185T>C MANE Select ENSP00000493153.1:p.Ile62Thr
ENST00000372779.8:c.272T>C ENSP00000361865.4:p.Ile91Thr
ENST00000433473.7:c.185T>C ENSP00000394863.3:p.Ile62Thr
ENST00000449045.6:c.125-2935T>C ENSP00000392293.2:n.125-2935T>C
ENST00000526547.1:c.35T>C ENSP00000436481.1:p.Ile12Thr
ENST00000527311.6:c.125-390T>C ENSP00000436695.2:n.125-390T>C
ENST00000529905.5:c.185T>C ENSP00000432053.1:p.Ile62Thr
ENST00000530704.5:c.185T>C ENSP00000431655.1:p.Ile62Thr
NM_000310.3:c.185T>C , LRG_690t1:c.185T>C NP_000301.1:p.Ile62Thr
NM_001142604.1:c.125-2935T>C NP_001136076.1:n.125-2935T>C
XM_005271008.1:c.185T>C XP_005271065.1:p.Ile62Thr
NM_001363695.1:c.185T>C NP_001350624.1:p.Ile62Thr
NM_000310.4:c.185T>C MANE Select NP_000301.1:p.Ile62Thr
NM_001142604.2:c.125-2935T>C NP_001136076.1:n.125-2935T>C
NM_001363695.2:c.185T>C NP_001350624.1:p.Ile62Thr