Canonical Allele Identifier: CA2645093829
Gene: PPT1 HGNC NCBI

Linked Data

dbSNP Id: rs2124494801
gnomAD v4: 1-40097310-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097310C>A , CM000663.2:g.40097310C>A GRCh38
NC_000001.10:g.40562982C>A , CM000663.1:g.40562982C>A GRCh37
NC_000001.9:g.40335569C>A NCBI36
NG_009192.1:g.5161G>T , LRG_690:g.5161G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-72G>T ENSP00000394863.3:n.-72G>T
NM_000310.3:c.-72G>T , LRG_690t1:c.-72G>T NP_000301.1:n.-72G>T
NM_001142604.1:c.-72G>T NP_001136076.1:n.-72G>T
NM_001363695.1:c.-72G>T NP_001350624.1:n.-72G>T
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