Canonical Allele Identifier: CA2645093814
Gene: PPT1 HGNC NCBI

Linked Data

gnomAD v4: 1-40097292-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097292C>T , CM000663.2:g.40097292C>T GRCh38
NC_000001.10:g.40562964C>T , CM000663.1:g.40562964C>T GRCh37
NC_000001.9:g.40335551C>T NCBI36
NG_009192.1:g.5179G>A , LRG_690:g.5179G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-54G>A ENSP00000394863.3:n.-54G>A
NM_000310.3:c.-54G>A , LRG_690t1:c.-54G>A NP_000301.1:n.-54G>A
NM_001142604.1:c.-54G>A NP_001136076.1:n.-54G>A
NM_001363695.1:c.-54G>A NP_001350624.1:n.-54G>A