Canonical Allele Identifier: CA2645093885
Gene: PPT1 HGNC NCBI

Linked Data

gnomAD v4: 1-40097363-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097363G>T , CM000663.2:g.40097363G>T GRCh38
NC_000001.10:g.40563035G>T , CM000663.1:g.40563035G>T GRCh37
NC_000001.9:g.40335622G>T NCBI36
NG_009192.1:g.5108C>A , LRG_690:g.5108C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-125C>A ENSP00000394863.3:n.-125C>A
NM_000310.3:c.-125C>A , LRG_690t1:c.-125C>A NP_000301.1:n.-125C>A
NM_001142604.1:c.-125C>A NP_001136076.1:n.-125C>A
NM_001363695.1:c.-125C>A NP_001350624.1:n.-125C>A