Canonical Allele Identifier: CA2645092457
Gene: PPT1 HGNC NCBI

Linked Data

gnomAD v4: 1-40091534-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40091534C>A , CM000663.2:g.40091534C>A GRCh38
NC_000001.10:g.40557206C>A , CM000663.1:g.40557206C>A GRCh37
NC_000001.9:g.40329793C>A NCBI36
NG_009192.1:g.10937G>T , LRG_690:g.10937G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372779.9:c.*199-135G>T ENSP00000361865.5:n.*199-135G>T
ENST00000433473.8:c.360-135G>T ENSP00000394863.4:n.360-135G>T
ENST00000439754.6:c.363-135G>T ENSP00000403207.2:n.363-135G>T
ENST00000449045.7:c.125-2022G>T ENSP00000392293.2:n.125-2022G>T
ENST00000526547.2:c.643-135G>T
ENST00000527311.7:c.235-135G>T ENSP00000436695.3:n.235-135G>T
ENST00000530704.6:c.363-135G>T ENSP00000431655.1:n.363-135G>T
ENST00000641083.1:c.341-135G>T
ENST00000641236.1:n.600-135G>T
ENST00000641319.1:c.363-135G>T ENSP00000493128.1:n.363-135G>T
ENST00000641471.1:c.450-135G>T ENSP00000493146.1:n.450-135G>T
ENST00000641548.1:c.*215-135G>T ENSP00000492984.1:n.*215-135G>T
ENST00000641691.1:c.*215-135G>T ENSP00000492910.1:n.*215-135G>T
ENST00000641924.1:c.124+5581G>T ENSP00000493063.1:n.124+5581G>T
ENST00000642050.2:c.363-135G>T MANE Select ENSP00000493153.1:n.363-135G>T
ENST00000372779.8:c.450-135G>T ENSP00000361865.4:n.450-135G>T
ENST00000433473.7:c.363-135G>T ENSP00000394863.3:n.363-135G>T
ENST00000439754.5:c.48-135G>T ENSP00000403207.1:n.48-135G>T
ENST00000449045.6:c.125-2022G>T ENSP00000392293.2:n.125-2022G>T
ENST00000526547.1:c.213-135G>T ENSP00000436481.1:n.213-135G>T
ENST00000527311.6:c.138-135G>T ENSP00000436695.2:n.138-135G>T
ENST00000529905.5:c.363-135G>T ENSP00000432053.1:n.363-135G>T
ENST00000530704.5:c.363-135G>T ENSP00000431655.1:n.363-135G>T
NM_000310.3:c.363-135G>T , LRG_690t1:c.363-135G>T NP_000301.1:n.363-135G>T
NM_001142604.1:c.125-2022G>T NP_001136076.1:n.125-2022G>T
XM_005271008.1:c.363-135G>T XP_005271065.1:n.363-135G>T
NM_001363695.1:c.363-135G>T NP_001350624.1:n.363-135G>T
NM_000310.4:c.363-135G>T MANE Select NP_000301.1:n.363-135G>T
NM_001142604.2:c.125-2022G>T NP_001136076.1:n.125-2022G>T
NM_001363695.2:c.363-135G>T NP_001350624.1:n.363-135G>T