Canonical Allele Identifier: CA522423000
Gene: PPT1 HGNC NCBI

Linked Data

dbSNP Id: rs759015803
gnomAD v2: 1-40562960-C-T
gnomAD v3: 1-40097288-C-T
gnomAD v4: 1-40097288-C-T
MyVariant Identifiers: chr1:g.40562960C>T (hg19) chr1:g.40097288C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097288C>T , CM000663.2:g.40097288C>T GRCh38
NC_000001.10:g.40562960C>T , CM000663.1:g.40562960C>T GRCh37
NC_000001.9:g.40335547C>T NCBI36
NG_009192.1:g.5183G>A , LRG_690:g.5183G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-50G>A ENSP00000394863.3:n.-50G>A
NM_000310.3:c.-50G>A , LRG_690t1:c.-50G>A NP_000301.1:n.-50G>A
NM_001142604.1:c.-50G>A NP_001136076.1:n.-50G>A
NM_001363695.1:c.-50G>A NP_001350624.1:n.-50G>A
Search 100 bp 5'
Search 100 bp 3'