Canonical Allele Identifier: CA410208005
Community Standard Title: NM_001754.5(RUNX1):c.579C>G (p.Ile193Met)
Gene: RUNX1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34859508G>C , CM000683.2:g.34859508G>C GRCh38
NC_000021.8:g.36231805G>C , CM000683.1:g.36231805G>C GRCh37
NC_000021.7:g.35153675G>C NCBI36
NG_011402.2:g.1130204C>G , LRG_482:g.1130204C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001754.5:c.579C>G MANE Select NP_001745.2:p.Ile193Met
ENST00000675419.1:c.579C>G MANE Select ENSP00000501943.1:p.Ile193Met
NM_001001890.2:c.498C>G NP_001001890.1:p.Ile166Met
NM_001001890.3:c.498C>G NP_001001890.1:p.Ile166Met
NM_001122607.1:c.498C>G NP_001116079.1:p.Ile166Met
NM_001122607.2:c.498C>G NP_001116079.1:p.Ile166Met
NM_001754.4:c.579C>G , LRG_482t1:c.579C>G NP_001745.2:p.Ile193Met
ENST00000300305.7:c.579C>G ENSP00000300305.3:p.Ile193Met
ENST00000344691.8:c.498C>G ENSP00000340690.4:p.Ile166Met
ENST00000358356.9:c.498C>G ENSP00000351123.5:p.Ile166Met
ENST00000399237.6:c.543C>G ENSP00000382182.2:p.Ile181Met
ENST00000399240.5:c.498C>G ENSP00000382184.1:p.Ile166Met
ENST00000437180.5:c.579C>G ENSP00000409227.1:p.Ile193Met
ENST00000467577.1:n.71C>G
ENST00000482318.5:c.*169C>G ENSP00000477067.1:n.*169C>G
XM_005261068.3:c.543C>G XP_005261125.1:p.Ile181Met
XM_005261069.3:c.579C>G XP_005261126.1:p.Ile193Met
XM_005261069.4:c.579C>G XP_005261126.1:p.Ile193Met
XM_011529766.1:c.579C>G XP_011528068.1:p.Ile193Met
XM_011529766.2:c.579C>G XP_011528068.1:p.Ile193Met
XM_011529767.1:c.540C>G XP_011528069.1:p.Ile180Met
XM_011529767.2:c.540C>G XP_011528069.1:p.Ile180Met
XM_011529768.1:c.540C>G XP_011528070.1:p.Ile180Met
XM_011529768.2:c.540C>G XP_011528070.1:p.Ile180Met
XM_011529770.1:c.579C>G XP_011528072.1:p.Ile193Met
XM_011529770.2:c.579C>G XP_011528072.1:p.Ile193Met
XM_017028487.1:c.426C>G XP_016883976.1:p.Ile142Met
XR_937576.1:n.758C>G
XR_937576.2:n.805C>G
Search 100 bp 5'
Search 100 bp 3'