Canonical Allele Identifier: CA21021479
Gene: PPT1 HGNC NCBI

Linked Data

dbSNP Id: rs559058511
gnomAD v2: 1-40562983-C-A
gnomAD v3: 1-40097311-C-A
gnomAD v4: 1-40097311-C-A
MyVariant Identifiers: chr1:g.40562983C>A (hg19) chr1:g.40097311C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097311C>A , CM000663.2:g.40097311C>A GRCh38
NC_000001.10:g.40562983C>A , CM000663.1:g.40562983C>A GRCh37
NC_000001.9:g.40335570C>A NCBI36
NG_009192.1:g.5160G>T , LRG_690:g.5160G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-73G>T ENSP00000394863.3:n.-73G>T
NM_000310.3:c.-73G>T , LRG_690t1:c.-73G>T NP_000301.1:n.-73G>T
NM_001142604.1:c.-73G>T NP_001136076.1:n.-73G>T
NM_001363695.1:c.-73G>T NP_001350624.1:n.-73G>T
Search 100 bp 5'
Search 100 bp 3'