Canonical Allele Identifier: CA522423051
Gene: PPT1 HGNC NCBI

Linked Data

dbSNP Id: rs1246463419
gnomAD v2: 1-40563161-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097489T>C , CM000663.2:g.40097489T>C GRCh38
NC_000001.10:g.40563161T>C , CM000663.1:g.40563161T>C GRCh37
NC_000001.9:g.40335748T>C NCBI36
NG_009192.1:g.4982A>G , LRG_690:g.4982A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-251A>G ENSP00000394863.3:n.-251A>G