Canonical Allele Identifier: CA10014221
Community Standard Title: NM_001754.5(RUNX1):c.1007T>C (p.Phe336Ser)
Gene: RUNX1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.34792571A>G , CM000683.2:g.34792571A>G GRCh38
NC_000021.8:g.36164868A>G , CM000683.1:g.36164868A>G GRCh37
NC_000021.7:g.35086738A>G NCBI36
NG_011402.2:g.1197141T>C , LRG_482:g.1197141T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001754.5:c.1007T>C MANE Select NP_001745.2:p.Phe336Ser
ENST00000675419.1:c.1007T>C MANE Select ENSP00000501943.1:p.Phe336Ser
NM_001001890.2:c.926T>C NP_001001890.1:p.Phe309Ser
NM_001001890.3:c.926T>C NP_001001890.1:p.Phe309Ser
NM_001754.4:c.1007T>C , LRG_482t1:c.1007T>C NP_001745.2:p.Phe336Ser
ENST00000300305.7:c.1007T>C ENSP00000300305.3:p.Phe336Ser
ENST00000344691.8:c.926T>C ENSP00000340690.4:p.Phe309Ser
ENST00000399240.5:c.734T>C ENSP00000382184.1:p.Phe245Ser
ENST00000437180.5:c.1007T>C ENSP00000409227.1:p.Phe336Ser
ENST00000482318.5:c.*597T>C ENSP00000477067.1:n.*597T>C
XM_005261068.3:c.971T>C XP_005261125.1:p.Phe324Ser
XM_005261069.3:c.815T>C XP_005261126.1:p.Phe272Ser
XM_005261069.4:c.815T>C XP_005261126.1:p.Phe272Ser
XM_011529766.1:c.1007T>C XP_011528068.1:p.Phe336Ser
XM_011529766.2:c.1007T>C XP_011528068.1:p.Phe336Ser
XM_011529767.1:c.968T>C XP_011528069.1:p.Phe323Ser
XM_011529767.2:c.968T>C XP_011528069.1:p.Phe323Ser
XM_011529768.1:c.776T>C XP_011528070.1:p.Phe259Ser
XM_011529768.2:c.776T>C XP_011528070.1:p.Phe259Ser
XM_017028487.1:c.854T>C XP_016883976.1:p.Phe285Ser
XR_937576.1:n.4611T>C
XR_937576.2:n.4658T>C