Canonical Allele Identifier: CA645896614
Gene: PPT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097378G>A , CM000663.2:g.40097378G>A GRCh38
NC_000001.10:g.40563050G>A , CM000663.1:g.40563050G>A GRCh37
NC_000001.9:g.40335637G>A NCBI36
NG_009192.1:g.5093C>T , LRG_690:g.5093C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-140C>T ENSP00000394863.3:n.-140C>T
NM_000310.3:c.-140C>T , LRG_690t1:c.-140C>T NP_000301.1:n.-140C>T
NM_001142604.1:c.-140C>T NP_001136076.1:n.-140C>T
NM_001363695.1:c.-140C>T NP_001350624.1:n.-140C>T