Canonical Allele Identifier: CA2645093911
Gene: PPT1 HGNC NCBI

Linked Data

gnomAD v4: 1-40097392-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097392A>G , CM000663.2:g.40097392A>G GRCh38
NC_000001.10:g.40563064A>G , CM000663.1:g.40563064A>G GRCh37
NC_000001.9:g.40335651A>G NCBI36
NG_009192.1:g.5079T>C , LRG_690:g.5079T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-154T>C ENSP00000394863.3:n.-154T>C
NM_000310.3:c.-154T>C , LRG_690t1:c.-154T>C NP_000301.1:n.-154T>C
NM_001142604.1:c.-154T>C NP_001136076.1:n.-154T>C
NM_001363695.1:c.-154T>C NP_001350624.1:n.-154T>C