Canonical Allele Identifier: CA2581660334
Gene: PPT1 HGNC NCBI

Linked Data

gnomAD v4: 1-40097321-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097321T>A , CM000663.2:g.40097321T>A GRCh38
NC_000001.10:g.40562993T>A , CM000663.1:g.40562993T>A GRCh37
NC_000001.9:g.40335580T>A NCBI36
NG_009192.1:g.5150A>T , LRG_690:g.5150A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-83A>T ENSP00000394863.3:n.-83A>T
NM_000310.3:c.-83A>T , LRG_690t1:c.-83A>T NP_000301.1:n.-83A>T
NM_001142604.1:c.-83A>T NP_001136076.1:n.-83A>T
NM_001363695.1:c.-83A>T NP_001350624.1:n.-83A>T