Canonical Allele Identifier: CA2645093895
Gene: PPT1 HGNC NCBI

Linked Data

gnomAD v4: 1-40097372-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097372A>C , CM000663.2:g.40097372A>C GRCh38
NC_000001.10:g.40563044A>C , CM000663.1:g.40563044A>C GRCh37
NC_000001.9:g.40335631A>C NCBI36
NG_009192.1:g.5099T>G , LRG_690:g.5099T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-134T>G ENSP00000394863.3:n.-134T>G
NM_000310.3:c.-134T>G , LRG_690t1:c.-134T>G NP_000301.1:n.-134T>G
NM_001142604.1:c.-134T>G NP_001136076.1:n.-134T>G
NM_001363695.1:c.-134T>G NP_001350624.1:n.-134T>G