Canonical Allele Identifier: CA3003622
Gene: SPP1 HGNC NCBI

Linked Data

dbSNP Id: rs369639492
gnomAD v2: 4-88903680-A-G
gnomAD v3: 4-87982528-A-G
gnomAD v4: 4-87982528-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.87982528A>G , CM000666.2:g.87982528A>G GRCh38
NC_000004.11:g.88903680A>G , CM000666.1:g.88903680A>G GRCh37
NC_000004.10:g.89122704A>G NCBI36
NG_030362.1:g.11879A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000508233.6:c.454A>G ENSP00000422973.2:p.Met152Val
ENST00000614857.5:c.577A>G ENSP00000477824.2:p.Met193Val
ENST00000681973.1:n.804A>G
ENST00000682026.1:n.530A>G
ENST00000682448.1:n.2063A>G
ENST00000682554.1:n.2025A>G
ENST00000682599.1:n.3065A>G
ENST00000682627.1:n.497A>G
ENST00000682865.1:n.861A>G
ENST00000683087.1:n.591A>G
ENST00000683168.1:n.1331A>G
ENST00000683620.1:n.1759A>G
ENST00000684106.1:n.2827A>G
ENST00000684450.1:n.1636A>G
ENST00000684710.1:n.1868A>G
ENST00000395080.8:c.577A>G MANE Select ENSP00000378517.3:p.Met193Val
ENST00000237623.11:c.535A>G ENSP00000237623.7:p.Met179Val
ENST00000360804.4:c.496A>G ENSP00000354042.4:p.Met166Val
ENST00000395080.7:c.577A>G ENSP00000378517.3:p.Met193Val
ENST00000508233.5:c.454A>G ENSP00000422973.1:p.Met152Val
ENST00000509659.5:n.866A>G
ENST00000614857.4:c.511A>G ENSP00000477824.1:p.Met171Val
NM_000582.2:c.535A>G NP_000573.1:p.Met179Val
NM_001040058.1:c.577A>G NP_001035147.1:p.Met193Val
NM_001040060.1:c.496A>G NP_001035149.1:p.Met166Val
NM_001251829.1:c.454A>G NP_001238758.1:p.Met152Val
NM_001251830.1:c.616A>G NP_001238759.1:p.Met206Val
NM_001040058.2:c.577A>G MANE Select NP_001035147.1:p.Met193Val
NM_000582.3:c.535A>G NP_000573.1:p.Met179Val
NM_001040060.2:c.496A>G NP_001035149.1:p.Met166Val
NM_001251829.2:c.454A>G NP_001238758.1:p.Met152Val
NM_001251830.2:c.616A>G NP_001238759.1:p.Met206Val