Canonical Allele Identifier: CA5521143
Gene: SIRT1 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.67891561T>C
GRCh37 chr10:g.69651319T>C
gnomAD v2:
10:69651319 T / C
gnomAD v3:
10:67891561 T / C
gnomAD v4:
chr10-67891561-T-C
Joint Max Group AF 0.22900722 (AFR)
Genomes Max Group AF 0.2239208 (AFR)
Exomes Max Group AF 0.23265847 (AFR)
ClinVar RCV:
RCV002116331
ClinVar Variation:
1628824
dbSNP:
36107781
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.67891561T>C , CM000672.2:g.67891561T>C GRCh38
NC_000010.10:g.69651319T>C , CM000672.1:g.69651319T>C GRCh37
NC_000010.9:g.69321325T>C NCBI36
NG_050664.1:g.11900T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000212015.11:c.942+7T>C MANE Select ENSP00000212015.6:n.942+7T>C
ENST00000212015.10:c.942+7T>C ENSP00000212015.6:n.942+7T>C
ENST00000406900.5:c.-93+7T>C ENSP00000384508.1:n.-93+7T>C
ENST00000432464.5:c.57+7T>C ENSP00000409208.1:n.57+7T>C
ENST00000473922.1:n.486+7T>C
NM_001142498.1:c.57+7T>C NP_001135970.1:n.57+7T>C
NM_001314049.1:c.-93+7T>C NP_001300978.1:n.-93+7T>C
NM_012238.4:c.942+7T>C NP_036370.2:n.942+7T>C
XM_006717737.2:c.789+2438T>C XP_006717800.1:n.789+2438T>C
XM_011539561.1:c.366+7T>C XP_011537863.1:n.366+7T>C
NM_012238.5:c.942+7T>C MANE Select NP_036370.2:n.942+7T>C
NM_001142498.2:c.57+7T>C NP_001135970.1:n.57+7T>C
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