Canonical Allele Identifier: CA2645093838
Gene: PPT1 HGNC NCBI

Linked Data

gnomAD v4: 1-40097322-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097322C>G , CM000663.2:g.40097322C>G GRCh38
NC_000001.10:g.40562994C>G , CM000663.1:g.40562994C>G GRCh37
NC_000001.9:g.40335581C>G NCBI36
NG_009192.1:g.5149G>C , LRG_690:g.5149G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-84G>C ENSP00000394863.3:n.-84G>C
NM_000310.3:c.-84G>C , LRG_690t1:c.-84G>C NP_000301.1:n.-84G>C
NM_001142604.1:c.-84G>C NP_001136076.1:n.-84G>C
NM_001363695.1:c.-84G>C NP_001350624.1:n.-84G>C