Canonical Allele Identifier: CA2173251933

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43604408G= , CM000677.2:g.43604408G= GRCh38
NC_000015.9:g.43896606G= , CM000677.1:g.43896606G= GRCh37
NC_000015.8:g.41683898G= NCBI36
NG_011636.1:g.19393C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4171C= (STRC) MANE Select ENSP00000401513.2:p.Arg1391=
ENST00000411560.1:n.143-376G= (CKMT1B)
ENST00000428650.5:c.*1374C= (STRC) ENSP00000415991.1:n.*1374C=
ENST00000440125.5:c.*1963C= (STRC) ENSP00000394866.1:n.*1963C=
ENST00000448437.6:n.1666-2857C= (STRC)
ENST00000450892.6:c.4171C= (STRC) ENSP00000401513.2:p.Arg1391=
ENST00000471703.5:n.2125C= (STRC)
ENST00000485556.5:n.3026C= (STRC)
ENST00000541030.5:c.1852C= (STRC) ENSP00000440413.1:p.Arg618=
NM_153700.2:c.4171C= (STRC) MANE Select NP_714544.1:p.Arg1391=
XM_011521277.1:c.4660C= (STRC) XP_011519579.1:p.Arg1554=
XM_011521278.1:c.4276C= (STRC) XP_011519580.1:p.Arg1426=
XM_011521279.1:c.4276C= (STRC) XP_011519581.1:p.Arg1426=