Canonical Allele Identifier: CA522422969
Gene: PPT1 HGNC NCBI

Linked Data

dbSNP Id: rs1443336752
gnomAD v2: 1-40562940-A-C
gnomAD v4: 1-40097268-A-C
MyVariant Identifiers: chr1:g.40562940A>C (hg19) chr1:g.40097268A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097268A>C , CM000663.2:g.40097268A>C GRCh38
NC_000001.10:g.40562940A>C , CM000663.1:g.40562940A>C GRCh37
NC_000001.9:g.40335527A>C NCBI36
NG_009192.1:g.5203T>G , LRG_690:g.5203T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-30T>G ENSP00000394863.3:n.-30T>G
NM_000310.3:c.-30T>G , LRG_690t1:c.-30T>G NP_000301.1:n.-30T>G
NM_001142604.1:c.-30T>G NP_001136076.1:n.-30T>G
NM_001363695.1:c.-30T>G NP_001350624.1:n.-30T>G
Search 100 bp 5'
Search 100 bp 3'