Canonical Allele Identifier: CA2574329865
Gene: PPT1 HGNC NCBI

Linked Data

gnomAD v4: 1-40097284-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097284G>C , CM000663.2:g.40097284G>C GRCh38
NC_000001.10:g.40562956G>C , CM000663.1:g.40562956G>C GRCh37
NC_000001.9:g.40335543G>C NCBI36
NG_009192.1:g.5187C>G , LRG_690:g.5187C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-46C>G ENSP00000394863.3:n.-46C>G
NM_000310.3:c.-46C>G , LRG_690t1:c.-46C>G NP_000301.1:n.-46C>G
NM_001142604.1:c.-46C>G NP_001136076.1:n.-46C>G
NM_001363695.1:c.-46C>G NP_001350624.1:n.-46C>G