Canonical Allele Identifier: CA2645093918
Gene: PPT1 HGNC NCBI

Linked Data

gnomAD v4: 1-40097402-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097402C>T , CM000663.2:g.40097402C>T GRCh38
NC_000001.10:g.40563074C>T , CM000663.1:g.40563074C>T GRCh37
NC_000001.9:g.40335661C>T NCBI36
NG_009192.1:g.5069G>A , LRG_690:g.5069G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-164G>A ENSP00000394863.3:n.-164G>A
NM_000310.3:c.-164G>A , LRG_690t1:c.-164G>A NP_000301.1:n.-164G>A
NM_001142604.1:c.-164G>A NP_001136076.1:n.-164G>A
NM_001363695.1:c.-164G>A NP_001350624.1:n.-164G>A
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