Canonical Allele Identifier: CA2580944069
Community Standard Title: NM_012238.5(SIRT1):c.548-71T>G
Gene: SIRT1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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