Canonical Allele Identifier: CA522422970
Gene: PPT1 HGNC NCBI

Linked Data

dbSNP Id: rs925427311
gnomAD v2: 1-40562944-T-G
gnomAD v4: 1-40097272-T-G
MyVariant Identifiers: chr1:g.40562944T>G (hg19) chr1:g.40097272T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097272T>G , CM000663.2:g.40097272T>G GRCh38
NC_000001.10:g.40562944T>G , CM000663.1:g.40562944T>G GRCh37
NC_000001.9:g.40335531T>G NCBI36
NG_009192.1:g.5199A>C , LRG_690:g.5199A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-34A>C ENSP00000394863.3:n.-34A>C
NM_000310.3:c.-34A>C , LRG_690t1:c.-34A>C NP_000301.1:n.-34A>C
NM_001142604.1:c.-34A>C NP_001136076.1:n.-34A>C
NM_001363695.1:c.-34A>C NP_001350624.1:n.-34A>C
Search 100 bp 5'
Search 100 bp 3'