Canonical Allele Identifier: CA13193246
Gene: SIRT1 HGNC NCBI
COSMIC:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.67900009G>A , CM000672.2:g.67900009G>A GRCh38
NC_000010.10:g.69659767G>A , CM000672.1:g.69659767G>A GRCh37
NC_000010.9:g.69329773G>A NCBI36
NG_050664.1:g.20348G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000212015.11:c.943-6781G>A MANE Select ENSP00000212015.6:n.943-6781G>A
ENST00000212015.10:c.943-6781G>A ENSP00000212015.6:n.943-6781G>A
ENST00000406900.5:c.-92-6154G>A ENSP00000384508.1:n.-92-6154G>A
ENST00000432464.5:c.58-6781G>A ENSP00000409208.1:n.58-6781G>A
ENST00000473922.1:n.487-6781G>A
NM_001142498.1:c.58-6781G>A NP_001135970.1:n.58-6781G>A
NM_001314049.1:c.-92-6154G>A NP_001300978.1:n.-92-6154G>A
NM_012238.4:c.943-6781G>A NP_036370.2:n.943-6781G>A
XM_006717737.2:c.790-6781G>A XP_006717800.1:n.790-6781G>A
XM_011539561.1:c.367-6781G>A XP_011537863.1:n.367-6781G>A
NM_012238.5:c.943-6781G>A MANE Select NP_036370.2:n.943-6781G>A
NM_001142498.2:c.58-6781G>A NP_001135970.1:n.58-6781G>A