Canonical Allele Identifier: CA5521114
Gene: SIRT1 HGNC NCBI
COSMIC:
COSN15303060 (not active)
MyVariant.info:
GRCh38 chr10:g.67891367A>G
GRCh37 chr10:g.69651125A>G
gnomAD v2:
10:69651125 A / G
gnomAD v3:
10:67891367 A / G
gnomAD v4:
chr10-67891367-A-G
Joint Max Group AF 0.65129142 (NFE)
Genomes Max Group AF 0.65321432 (NFE)
Exomes Max Group AF 0.65089667 (NFE)
dbSNP:
7896005
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.67891367A>G , CM000672.2:g.67891367A>G GRCh38
NC_000010.10:g.69651125A>G , CM000672.1:g.69651125A>G GRCh37
NC_000010.9:g.69321131A>G NCBI36
NG_050664.1:g.11706A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000212015.11:c.790-35A>G MANE Select ENSP00000212015.6:n.790-35A>G
ENST00000212015.10:c.790-35A>G ENSP00000212015.6:n.790-35A>G
ENST00000432464.5:c.-96-35A>G ENSP00000409208.1:n.-96-35A>G
ENST00000473922.1:n.334-35A>G
ENST00000497639.5:n.579-35A>G
NM_001142498.1:c.-96-35A>G NP_001135970.1:n.-96-35A>G
NM_012238.4:c.790-35A>G NP_036370.2:n.790-35A>G
XM_006717737.2:c.789+2244A>G XP_006717800.1:n.789+2244A>G
XM_011539561.1:c.214-35A>G XP_011537863.1:n.214-35A>G
NM_012238.5:c.790-35A>G MANE Select NP_036370.2:n.790-35A>G
NM_001142498.2:c.-96-35A>G NP_001135970.1:n.-96-35A>G
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