Canonical Allele Identifier: CA1000868376
Gene: PPT1 HGNC NCBI

Linked Data

dbSNP Id: rs1649933648
gnomAD v4: 1-40097466-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40097466A>G , CM000663.2:g.40097466A>G GRCh38
NC_000001.10:g.40563138A>G , CM000663.1:g.40563138A>G GRCh37
NC_000001.9:g.40335725A>G NCBI36
NG_009192.1:g.5005T>C , LRG_690:g.5005T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.7:c.-228T>C ENSP00000394863.3:n.-228T>C
NM_000310.3:c.-228T>C , LRG_690t1:c.-228T>C NP_000301.1:n.-228T>C
NM_001142604.1:c.-228T>C NP_001136076.1:n.-228T>C
NM_001363695.1:c.-228T>C NP_001350624.1:n.-228T>C
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