Canonical Allele Identifier: CA522423050
Gene: PPT1 HGNC NCBI

Linked Data

dbSNP Id: rs966977603
gnomAD v2: 1-40563120-C-T
gnomAD v3: 1-40097448-C-T
gnomAD v4: 1-40097448-C-T
MyVariant Identifiers: chr1:g.40563120C>T (hg19) chr1:g.40097448C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097448C>T , CM000663.2:g.40097448C>T GRCh38
NC_000001.10:g.40563120C>T , CM000663.1:g.40563120C>T GRCh37
NC_000001.9:g.40335707C>T NCBI36
NG_009192.1:g.5023G>A , LRG_690:g.5023G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-210G>A ENSP00000394863.3:n.-210G>A
NM_000310.3:c.-210G>A , LRG_690t1:c.-210G>A NP_000301.1:n.-210G>A
NM_001142604.1:c.-210G>A NP_001136076.1:n.-210G>A
NM_001363695.1:c.-210G>A NP_001350624.1:n.-210G>A
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