Canonical Allele Identifier: CA2555149574
Gene: PPT1 HGNC NCBI

Linked Data

gnomAD v4: 1-40097292-C-A

Genomic Alleles

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

Transcript Alleles

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