Canonical Allele Identifier: CA2574329861
Gene: PPT1 HGNC NCBI

Linked Data

gnomAD v4: 1-40097255-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097255G>A , CM000663.2:g.40097255G>A GRCh38
NC_000001.10:g.40562927G>A , CM000663.1:g.40562927G>A GRCh37
NC_000001.9:g.40335514G>A NCBI36
NG_009192.1:g.5216C>T , LRG_690:g.5216C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000449045.7:c.-17C>T ENSP00000392293.2:n.-17C>T
ENST00000433473.7:c.-17C>T ENSP00000394863.3:n.-17C>T
NM_000310.3:c.-17C>T , LRG_690t1:c.-17C>T NP_000301.1:n.-17C>T
NM_001142604.1:c.-17C>T NP_001136076.1:n.-17C>T
NM_001363695.1:c.-17C>T NP_001350624.1:n.-17C>T
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