Canonical Allele Identifier: CA410202596
Gene: RUNX1 HGNC NCBI

Linked Data

dbSNP Id: rs752926959
gnomAD v2: 21-36252917-C-G
MyVariant Identifiers: chr21:g.36252917C>G (hg19) chr21:g.34880620C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34880620C>G , CM000683.2:g.34880620C>G GRCh38
NC_000021.8:g.36252917C>G , CM000683.1:g.36252917C>G GRCh37
NC_000021.7:g.35174787C>G NCBI36
NG_011402.2:g.1109092G>C , LRG_482:g.1109092G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.445G>C MANE Select ENSP00000501943.1:p.Ala149Pro
ENST00000300305.7:c.445G>C ENSP00000300305.3:p.Ala149Pro
ENST00000344691.8:c.364G>C ENSP00000340690.4:p.Ala122Pro
ENST00000358356.9:c.364G>C ENSP00000351123.5:p.Ala122Pro
ENST00000399237.6:c.409G>C ENSP00000382182.2:p.Ala137Pro
ENST00000399240.5:c.364G>C ENSP00000382184.1:p.Ala122Pro
ENST00000437180.5:c.445G>C ENSP00000409227.1:p.Ala149Pro
ENST00000455571.5:c.406G>C ENSP00000388189.1:p.Ala136Pro
ENST00000482318.5:c.*35G>C ENSP00000477067.1:n.*35G>C
NM_001001890.2:c.364G>C NP_001001890.1:p.Ala122Pro
NM_001122607.1:c.364G>C NP_001116079.1:p.Ala122Pro
NM_001754.4:c.445G>C , LRG_482t1:c.445G>C NP_001745.2:p.Ala149Pro
XM_005261068.3:c.409G>C XP_005261125.1:p.Ala137Pro
XM_005261069.3:c.445G>C XP_005261126.1:p.Ala149Pro
XM_011529766.1:c.445G>C XP_011528068.1:p.Ala149Pro
XM_011529767.1:c.406G>C XP_011528069.1:p.Ala136Pro
XM_011529768.1:c.406G>C XP_011528070.1:p.Ala136Pro
XM_011529770.1:c.445G>C XP_011528072.1:p.Ala149Pro
XR_937576.1:n.624G>C
XM_005261069.4:c.445G>C XP_005261126.1:p.Ala149Pro
XM_011529766.2:c.445G>C XP_011528068.1:p.Ala149Pro
XM_011529767.2:c.406G>C XP_011528069.1:p.Ala136Pro
XM_011529768.2:c.406G>C XP_011528070.1:p.Ala136Pro
XM_011529770.2:c.445G>C XP_011528072.1:p.Ala149Pro
XM_017028487.1:c.292G>C XP_016883976.1:p.Ala98Pro
XR_937576.2:n.671G>C
NM_001001890.3:c.364G>C NP_001001890.1:p.Ala122Pro
NM_001122607.2:c.364G>C NP_001116079.1:p.Ala122Pro
NM_001754.5:c.445G>C MANE Select NP_001745.2:p.Ala149Pro
Search 100 bp 5'
Search 100 bp 3'