Canonical Allele Identifier: CA13245687
Gene: SIRT1 HGNC NCBI
COSMIC:
COSN15303252 (not active)
COSN19629183 (not active)
COSN19767325 (not active)
MyVariant.info:
GRCh38 chr10:g.67888811T>A
GRCh37 chr10:g.69648569T>A
gnomAD v2:
10:69648569 T / A
gnomAD v3:
10:67888811 T / A
gnomAD v4:
chr10-67888811-T-A
Joint Max Group AF 0.54709939 (NFE)
Genomes Max Group AF 0.54312639 (NFE)
Exomes Max Group AF 0.54709244 (NFE)
dbSNP:
2236318
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.67888811T>A , CM000672.2:g.67888811T>A GRCh38
NC_000010.10:g.69648569T>A , CM000672.1:g.69648569T>A GRCh37
NC_000010.9:g.69318575T>A NCBI36
NG_050664.1:g.9150T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000212015.11:c.548-71T>A MANE Select ENSP00000212015.6:n.548-71T>A
ENST00000212015.10:c.548-71T>A ENSP00000212015.6:n.548-71T>A
ENST00000432464.5:c.-97+1278T>A ENSP00000409208.1:n.-97+1278T>A
ENST00000473922.1:n.333+1278T>A
ENST00000497639.5:n.337-71T>A
NM_001142498.1:c.-97+1278T>A NP_001135970.1:n.-97+1278T>A
NM_012238.4:c.548-71T>A NP_036370.2:n.548-71T>A
XM_006717737.2:c.548-71T>A XP_006717800.1:n.548-71T>A
XM_011539561.1:c.-29-71T>A XP_011537863.1:n.-29-71T>A
NM_012238.5:c.548-71T>A MANE Select NP_036370.2:n.548-71T>A
NM_001142498.2:c.-97+1278T>A NP_001135970.1:n.-97+1278T>A
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