Canonical Allele Identifier: CA417323299
Gene: PPT1 HGNC NCBI

Linked Data

gnomAD v4: 1-40097306-G-T
MyVariant Identifiers: chr1:g.40562978G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097306G>T , CM000663.2:g.40097306G>T GRCh38
NC_000001.10:g.40562978G>T , CM000663.1:g.40562978G>T GRCh37
NC_000001.9:g.40335565G>T NCBI36
NG_009192.1:g.5165C>A , LRG_690:g.5165C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-68C>A ENSP00000394863.3:n.-68C>A
NM_000310.3:c.-68C>A , LRG_690t1:c.-68C>A NP_000301.1:n.-68C>A
NM_001142604.1:c.-68C>A NP_001136076.1:n.-68C>A
NM_001363695.1:c.-68C>A NP_001350624.1:n.-68C>A
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