Canonical Allele Identifier: CA1000857060
Gene: PPT1 HGNC NCBI

Linked Data

dbSNP Id: rs1163279632
gnomAD v3: 1-40078818-A-C
gnomAD v4: 1-40078818-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40078818A>C , CM000663.2:g.40078818A>C GRCh38
NC_000001.10:g.40544490A>C , CM000663.1:g.40544490A>C GRCh37
NC_000001.9:g.40317077A>C NCBI36
NG_009192.1:g.23653T>G , LRG_690:g.23653T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.8:c.625-160T>G ENSP00000394863.4:n.625-160T>G
ENST00000439754.6:c.628-160T>G ENSP00000403207.2:n.628-160T>G
ENST00000449045.7:c.319-160T>G ENSP00000392293.2:n.319-160T>G
ENST00000527311.7:c.397-160T>G ENSP00000436695.3:n.397-160T>G
ENST00000530076.6:c.-30-160T>G ENSP00000434007.1:n.-30-160T>G
ENST00000530704.6:c.*251-160T>G ENSP00000431655.1:n.*251-160T>G
ENST00000641083.1:c.606-160T>G
ENST00000641236.1:n.865-160T>G
ENST00000641319.1:c.628-160T>G ENSP00000493128.1:n.628-160T>G
ENST00000641381.1:c.149-1905T>G
ENST00000641471.1:c.715-160T>G ENSP00000493146.1:n.715-160T>G
ENST00000641691.1:c.*480-160T>G ENSP00000492910.1:n.*480-160T>G
ENST00000641924.1:c.*57-160T>G ENSP00000493063.1:n.*57-160T>G
ENST00000642050.2:c.628-160T>G MANE Select ENSP00000493153.1:n.628-160T>G
ENST00000372775.2:n.18T>G
ENST00000372779.8:c.715-160T>G ENSP00000361865.4:n.715-160T>G
ENST00000433473.7:c.628-160T>G ENSP00000394863.3:n.628-160T>G
ENST00000439754.5:c.313-160T>G ENSP00000403207.1:n.313-160T>G
ENST00000449045.6:c.319-160T>G ENSP00000392293.2:n.319-160T>G
ENST00000527311.6:c.403-160T>G ENSP00000436695.2:n.403-160T>G
ENST00000529905.5:c.628-160T>G ENSP00000432053.1:n.628-160T>G
ENST00000530076.5:c.-30-160T>G ENSP00000434007.1:n.-30-160T>G
ENST00000530704.5:c.*251-160T>G ENSP00000431655.1:n.*251-160T>G
NM_000310.3:c.628-160T>G , LRG_690t1:c.628-160T>G NP_000301.1:n.628-160T>G
NM_001142604.1:c.319-160T>G NP_001136076.1:n.319-160T>G
XM_005271008.1:c.628-160T>G XP_005271065.1:n.628-160T>G
NM_001363695.1:c.628-160T>G NP_001350624.1:n.628-160T>G
NM_000310.4:c.628-160T>G MANE Select NP_000301.1:n.628-160T>G
NM_001142604.2:c.319-160T>G NP_001136076.1:n.319-160T>G
NM_001363695.2:c.628-160T>G NP_001350624.1:n.628-160T>G