Canonical Allele Identifier: CA5521205
Gene: SIRT1 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.67908026T>C
GRCh37 chr10:g.69667783T>C
gnomAD v2:
10:69667783 T / C
gnomAD v3:
10:67908026 T / C
gnomAD v4:
chr10-67908026-T-C
Joint Max Group AF 0.02290915 (EAS)
Genomes Max Group AF 0.01251791 (EAS)
Exomes Max Group AF 0.02397171 (EAS)
ClinVar RCV:
RCV002159293
ClinVar Variation:
1655913
dbSNP:
34701705
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.67908026T>C , CM000672.2:g.67908026T>C GRCh38
NC_000010.10:g.69667783T>C , CM000672.1:g.69667783T>C GRCh37
NC_000010.9:g.69337789T>C NCBI36
NG_050664.1:g.28365T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000212015.11:c.1091-20T>C MANE Select ENSP00000212015.6:n.1091-20T>C
ENST00000212015.10:c.1091-20T>C ENSP00000212015.6:n.1091-20T>C
ENST00000403579.1:c.182-20T>C ENSP00000384063.1:n.182-20T>C
ENST00000406900.5:c.182-20T>C ENSP00000384508.1:n.182-20T>C
ENST00000432464.5:c.206-20T>C ENSP00000409208.1:n.206-20T>C
NM_001142498.1:c.206-20T>C NP_001135970.1:n.206-20T>C
NM_001314049.1:c.182-20T>C NP_001300978.1:n.182-20T>C
NM_012238.4:c.1091-20T>C NP_036370.2:n.1091-20T>C
XM_006717737.2:c.938-20T>C XP_006717800.1:n.938-20T>C
XM_011539561.1:c.515-20T>C XP_011537863.1:n.515-20T>C
NM_012238.5:c.1091-20T>C MANE Select NP_036370.2:n.1091-20T>C
NM_001142498.2:c.206-20T>C NP_001135970.1:n.206-20T>C
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