Canonical Allele Identifier: CA21021637
Gene: PPT1 HGNC NCBI

Linked Data

dbSNP Id: rs564719182
gnomAD v3: 1-40097478-C-T
gnomAD v4: 1-40097478-C-T
MyVariant Identifiers: chr1:g.40563150C>T (hg19) chr1:g.40097478C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097478C>T , CM000663.2:g.40097478C>T GRCh38
NC_000001.10:g.40563150C>T , CM000663.1:g.40563150C>T GRCh37
NC_000001.9:g.40335737C>T NCBI36
NG_009192.1:g.4993G>A , LRG_690:g.4993G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-240G>A ENSP00000394863.3:n.-240G>A
Search 100 bp 5'
Search 100 bp 3'