Canonical Allele Identifier: CA410149580
Gene: RUNX1 HGNC NCBI

Linked Data

ClinVar Variation Id: 618862
ClinVar RCV Id: RCV000757724 RCV000851916 RCV001078218
dbSNP Id: rs1569008655
COSMIC: COSM41699
MyVariant Identifiers: chr21:g.36171607G>A (hg19) chr21:g.34799310G>A (hg38)
ERepo: CA410149580/MONDO:0011071/008
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34799310G>A , CM000683.2:g.34799310G>A GRCh38
NC_000021.8:g.36171607G>A , CM000683.1:g.36171607G>A GRCh37
NC_000021.7:g.35093477G>A NCBI36
NG_011402.2:g.1190402C>T , LRG_482:g.1190402C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000675419.1:c.958C>T MANE Select ENSP00000501943.1:p.Arg320Ter
ENST00000300305.7:c.958C>T ENSP00000300305.3:p.Arg320Ter
ENST00000344691.8:c.877C>T ENSP00000340690.4:p.Arg293Ter
ENST00000399240.5:c.685C>T ENSP00000382184.1:p.Arg229Ter
ENST00000437180.5:c.958C>T ENSP00000409227.1:p.Arg320Ter
ENST00000482318.5:c.*548C>T ENSP00000477067.1:n.*548C>T
NM_001001890.2:c.877C>T NP_001001890.1:p.Arg293Ter
NM_001754.4:c.958C>T , LRG_482t1:c.958C>T NP_001745.2:p.Arg320Ter
XM_005261068.3:c.922C>T XP_005261125.1:p.Arg308Ter
XM_005261069.3:c.766C>T XP_005261126.1:p.Arg256Ter
XM_011529766.1:c.958C>T XP_011528068.1:p.Arg320Ter
XM_011529767.1:c.919C>T XP_011528069.1:p.Arg307Ter
XM_011529768.1:c.727C>T XP_011528070.1:p.Arg243Ter
XR_937576.1:n.1137C>T
XM_005261069.4:c.766C>T XP_005261126.1:p.Arg256Ter
XM_011529766.2:c.958C>T XP_011528068.1:p.Arg320Ter
XM_011529767.2:c.919C>T XP_011528069.1:p.Arg307Ter
XM_011529768.2:c.727C>T XP_011528070.1:p.Arg243Ter
XM_017028487.1:c.805C>T XP_016883976.1:p.Arg269Ter
XR_937576.2:n.1184C>T
NM_001001890.3:c.877C>T NP_001001890.1:p.Arg293Ter
NM_001754.5:c.958C>T MANE Select NP_001745.2:p.Arg320Ter
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