Canonical Allele Identifier: CA735697525
Gene: PPT1 HGNC NCBI

Linked Data

dbSNP Id: rs111293364
gnomAD v4: 1-40097293-G-A
MyVariant Identifiers: chr1:g.40562965G>A (hg19) chr1:g.40097293G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097293G>A , CM000663.2:g.40097293G>A GRCh38
NC_000001.10:g.40562965G>A , CM000663.1:g.40562965G>A GRCh37
NC_000001.9:g.40335552G>A NCBI36
NG_009192.1:g.5178C>T , LRG_690:g.5178C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-55C>T ENSP00000394863.3:n.-55C>T
NM_000310.3:c.-55C>T , LRG_690t1:c.-55C>T NP_000301.1:n.-55C>T
NM_001142604.1:c.-55C>T NP_001136076.1:n.-55C>T
NM_001363695.1:c.-55C>T NP_001350624.1:n.-55C>T
Search 100 bp 5'
Search 100 bp 3'