Canonical Allele Identifier: CA410147522
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2089328
ClinVar RCV Id: RCV003005496
dbSNP Id: rs1060502577
MyVariant Identifiers: chr21:g.36164595C>G (hg19) chr21:g.34792298C>G (hg38)
ERepo: CA410147522/MONDO:0011071/008
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34792298C>G , CM000683.2:g.34792298C>G GRCh38
NC_000021.8:g.36164595C>G , CM000683.1:g.36164595C>G GRCh37
NC_000021.7:g.35086465C>G NCBI36
NG_011402.2:g.1197414G>C , LRG_482:g.1197414G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000675419.1:c.1280G>C MANE Select ENSP00000501943.1:p.Arg427Pro
ENST00000300305.7:c.1280G>C ENSP00000300305.3:p.Arg427Pro
ENST00000344691.8:c.1199G>C ENSP00000340690.4:p.Arg400Pro
ENST00000399240.5:c.1007G>C ENSP00000382184.1:p.Arg336Pro
ENST00000437180.5:c.1280G>C ENSP00000409227.1:p.Arg427Pro
ENST00000482318.5:c.*870G>C ENSP00000477067.1:n.*870G>C
NM_001001890.2:c.1199G>C NP_001001890.1:p.Arg400Pro
NM_001754.4:c.1280G>C , LRG_482t1:c.1280G>C NP_001745.2:p.Arg427Pro
XM_005261068.3:c.1244G>C XP_005261125.1:p.Arg415Pro
XM_005261069.3:c.1088G>C XP_005261126.1:p.Arg363Pro
XM_011529766.1:c.1280G>C XP_011528068.1:p.Arg427Pro
XM_011529767.1:c.1241G>C XP_011528069.1:p.Arg414Pro
XM_011529768.1:c.1049G>C XP_011528070.1:p.Arg350Pro
XM_005261069.4:c.1088G>C XP_005261126.1:p.Arg363Pro
XM_011529766.2:c.1280G>C XP_011528068.1:p.Arg427Pro
XM_011529767.2:c.1241G>C XP_011528069.1:p.Arg414Pro
XM_011529768.2:c.1049G>C XP_011528070.1:p.Arg350Pro
XM_017028487.1:c.1127G>C XP_016883976.1:p.Arg376Pro
NM_001001890.3:c.1199G>C NP_001001890.1:p.Arg400Pro
NM_001754.5:c.1280G>C MANE Select NP_001745.2:p.Arg427Pro
Search 100 bp 5'
Search 100 bp 3'