Canonical Allele Identifier: CA512318986
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2035147
ClinVar RCV Id: RCV002889892
MyVariant Identifiers: chr21:g.36259368C>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34887071C>G , CM000683.2:g.34887071C>G GRCh38
NC_000021.8:g.36259368C>G , CM000683.1:g.36259368C>G GRCh37
NC_000021.7:g.35181238C>G NCBI36
NG_011402.2:g.1102641G>C , LRG_482:g.1102641G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.123G>C MANE Select ENSP00000501943.1:p.Thr41=
ENST00000300305.7:c.123G>C ENSP00000300305.3:p.Thr41=
ENST00000344691.8:c.42G>C ENSP00000340690.4:p.Thr14=
ENST00000358356.9:c.42G>C ENSP00000351123.5:p.Thr14=
ENST00000399237.6:c.87G>C ENSP00000382182.2:p.Thr29=
ENST00000399240.5:c.42G>C ENSP00000382184.1:p.Thr14=
ENST00000437180.5:c.123G>C ENSP00000409227.1:p.Thr41=
ENST00000455571.5:c.84G>C ENSP00000388189.1:p.Thr28=
ENST00000475045.6:c.123G>C ENSP00000477072.1:p.Thr41=
ENST00000482318.5:c.59-6358G>C ENSP00000477067.1:n.59-6358G>C
NM_001001890.2:c.42G>C NP_001001890.1:p.Thr14=
NM_001122607.1:c.42G>C NP_001116079.1:p.Thr14=
NM_001754.4:c.123G>C , LRG_482t1:c.123G>C NP_001745.2:p.Thr41=
XM_005261068.3:c.87G>C XP_005261125.1:p.Thr29=
XM_005261069.3:c.123G>C XP_005261126.1:p.Thr41=
XM_011529766.1:c.123G>C XP_011528068.1:p.Thr41=
XM_011529767.1:c.84G>C XP_011528069.1:p.Thr28=
XM_011529768.1:c.84G>C XP_011528070.1:p.Thr28=
XM_011529770.1:c.123G>C XP_011528072.1:p.Thr41=
XR_937576.1:n.302G>C
XM_005261069.4:c.123G>C XP_005261126.1:p.Thr41=
XM_011529766.2:c.123G>C XP_011528068.1:p.Thr41=
XM_011529767.2:c.84G>C XP_011528069.1:p.Thr28=
XM_011529768.2:c.84G>C XP_011528070.1:p.Thr28=
XM_011529770.2:c.123G>C XP_011528072.1:p.Thr41=
XM_017028487.1:c.-31G>C XP_016883976.1:n.-31G>C
XR_937576.2:n.349G>C
NM_001001890.3:c.42G>C NP_001001890.1:p.Thr14=
NM_001122607.2:c.42G>C NP_001116079.1:p.Thr14=
NM_001754.5:c.123G>C MANE Select NP_001745.2:p.Thr41=
Search 100 bp 5'
Search 100 bp 3'