Canonical Allele Identifier: CA410202774
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1363734
ClinVar RCV Id: RCV001905060
dbSNP Id: rs2146363846
gnomAD v4: 21-34880704-G-T
MyVariant Identifiers: chr21:g.36253001G>T (hg19) chr21:g.34880704G>T (hg38)
ERepo: CA410202774/MONDO:0011071/008
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880704G>T , CM000683.2:g.34880704G>T GRCh38
NC_000021.8:g.36253001G>T , CM000683.1:g.36253001G>T GRCh37
NC_000021.7:g.35174871G>T NCBI36
NG_011402.2:g.1109008C>A , LRG_482:g.1109008C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.361C>A MANE Select ENSP00000501943.1:p.Leu121Ile
ENST00000300305.7:c.361C>A ENSP00000300305.3:p.Leu121Ile
ENST00000344691.8:c.280C>A ENSP00000340690.4:p.Leu94Ile
ENST00000358356.9:c.280C>A ENSP00000351123.5:p.Leu94Ile
ENST00000399237.6:c.325C>A ENSP00000382182.2:p.Leu109Ile
ENST00000399240.5:c.280C>A ENSP00000382184.1:p.Leu94Ile
ENST00000437180.5:c.361C>A ENSP00000409227.1:p.Leu121Ile
ENST00000455571.5:c.322C>A ENSP00000388189.1:p.Leu108Ile
ENST00000482318.5:c.68C>A ENSP00000477067.1:p.Pro23His
NM_001001890.2:c.280C>A NP_001001890.1:p.Leu94Ile
NM_001122607.1:c.280C>A NP_001116079.1:p.Leu94Ile
NM_001754.4:c.361C>A , LRG_482t1:c.361C>A NP_001745.2:p.Leu121Ile
XM_005261068.3:c.325C>A XP_005261125.1:p.Leu109Ile
XM_005261069.3:c.361C>A XP_005261126.1:p.Leu121Ile
XM_011529766.1:c.361C>A XP_011528068.1:p.Leu121Ile
XM_011529767.1:c.322C>A XP_011528069.1:p.Leu108Ile
XM_011529768.1:c.322C>A XP_011528070.1:p.Leu108Ile
XM_011529770.1:c.361C>A XP_011528072.1:p.Leu121Ile
XR_937576.1:n.540C>A
XM_005261069.4:c.361C>A XP_005261126.1:p.Leu121Ile
XM_011529766.2:c.361C>A XP_011528068.1:p.Leu121Ile
XM_011529767.2:c.322C>A XP_011528069.1:p.Leu108Ile
XM_011529768.2:c.322C>A XP_011528070.1:p.Leu108Ile
XM_011529770.2:c.361C>A XP_011528072.1:p.Leu121Ile
XM_017028487.1:c.208C>A XP_016883976.1:p.Leu70Ile
XR_937576.2:n.587C>A
NM_001001890.3:c.280C>A NP_001001890.1:p.Leu94Ile
NM_001122607.2:c.280C>A NP_001116079.1:p.Leu94Ile
NM_001754.5:c.361C>A MANE Select NP_001745.2:p.Leu121Ile
Search 100 bp 5'
Search 100 bp 3'