Canonical Allele Identifier: CA789873
Gene: PPT1 HGNC NCBI

Linked Data

dbSNP Id: rs372966524
ExAC: 1:40562930 C / G
gnomAD v2: 1-40562930-C-G
gnomAD v4: 1-40097258-C-G
MyVariant Identifiers: chr1:g.40562930C>G (hg19) chr1:g.40097258C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097258C>G , CM000663.2:g.40097258C>G GRCh38
NC_000001.10:g.40562930C>G , CM000663.1:g.40562930C>G GRCh37
NC_000001.9:g.40335517C>G NCBI36
NG_009192.1:g.5213G>C , LRG_690:g.5213G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000449045.7:c.-20G>C ENSP00000392293.2:n.-20G>C
ENST00000433473.7:c.-20G>C ENSP00000394863.3:n.-20G>C
NM_000310.3:c.-20G>C , LRG_690t1:c.-20G>C NP_000301.1:n.-20G>C
NM_001142604.1:c.-20G>C NP_001136076.1:n.-20G>C
NM_001363695.1:c.-20G>C NP_001350624.1:n.-20G>C
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