Canonical Allele Identifier: CA1164248742
Gene: PPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097375C= , CM000663.2:g.40097375C= GRCh38
NC_000001.10:g.40563047C= , CM000663.1:g.40563047C= GRCh37
NC_000001.9:g.40335634C= NCBI36
NG_009192.1:g.5096G= , LRG_690:g.5096G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-137G= ENSP00000394863.3:n.-137G=
NM_000310.3:c.-137G= , LRG_690t1:c.-137G= NP_000301.1:n.-137G=
NM_001142604.1:c.-137G= NP_001136076.1:n.-137G=
NM_001363695.1:c.-137G= NP_001350624.1:n.-137G=