Canonical Allele Identifier: CA410148192
Community Standard Title: NM_001754.5(RUNX1):c.1082C>G (p.Thr361Ser)
Gene: RUNX1 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34792496G>C , CM000683.2:g.34792496G>C GRCh38
NC_000021.8:g.36164793G>C , CM000683.1:g.36164793G>C GRCh37
NC_000021.7:g.35086663G>C NCBI36
NG_011402.2:g.1197216C>G , LRG_482:g.1197216C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001754.5:c.1082C>G MANE Select NP_001745.2:p.Thr361Ser
ENST00000675419.1:c.1082C>G MANE Select ENSP00000501943.1:p.Thr361Ser
NM_001001890.2:c.1001C>G NP_001001890.1:p.Thr334Ser
NM_001001890.3:c.1001C>G NP_001001890.1:p.Thr334Ser
NM_001754.4:c.1082C>G , LRG_482t1:c.1082C>G NP_001745.2:p.Thr361Ser
ENST00000300305.7:c.1082C>G ENSP00000300305.3:p.Thr361Ser
ENST00000344691.8:c.1001C>G ENSP00000340690.4:p.Thr334Ser
ENST00000399240.5:c.809C>G ENSP00000382184.1:p.Thr270Ser
ENST00000437180.5:c.1082C>G ENSP00000409227.1:p.Thr361Ser
ENST00000482318.5:c.*672C>G ENSP00000477067.1:n.*672C>G
XM_005261068.3:c.1046C>G XP_005261125.1:p.Thr349Ser
XM_005261069.3:c.890C>G XP_005261126.1:p.Thr297Ser
XM_005261069.4:c.890C>G XP_005261126.1:p.Thr297Ser
XM_011529766.1:c.1082C>G XP_011528068.1:p.Thr361Ser
XM_011529766.2:c.1082C>G XP_011528068.1:p.Thr361Ser
XM_011529767.1:c.1043C>G XP_011528069.1:p.Thr348Ser
XM_011529767.2:c.1043C>G XP_011528069.1:p.Thr348Ser
XM_011529768.1:c.851C>G XP_011528070.1:p.Thr284Ser
XM_011529768.2:c.851C>G XP_011528070.1:p.Thr284Ser
XM_017028487.1:c.929C>G XP_016883976.1:p.Thr310Ser
Search 100 bp 5'
Search 100 bp 3'