Canonical Allele Identifier: CA2173248123

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600649G= , CM000677.2:g.43600649G= GRCh38
NC_000015.9:g.43892847G= , CM000677.1:g.43892847G= GRCh37
NC_000015.8:g.41680139G= NCBI36
NG_011636.1:g.23152C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4878C= (STRC) MANE Select ENSP00000401513.2:p.Leu1626=
ENST00000411560.1:n.142+1116G= (CKMT1B)
ENST00000428650.5:c.*1911C= (STRC) ENSP00000415991.1:n.*1911C=
ENST00000440125.5:c.*2670C= (STRC) ENSP00000394866.1:n.*2670C=
ENST00000448437.6:n.1998C= (STRC)
ENST00000450892.6:c.4878C= (STRC) ENSP00000401513.2:p.Leu1626=
ENST00000460952.1:n.457C= (STRC)
ENST00000471703.5:n.2832C= (STRC)
ENST00000485556.5:n.3733C= (STRC)
ENST00000541030.5:c.2559C= (STRC) ENSP00000440413.1:p.Leu853=
NM_153700.2:c.4878C= (STRC) MANE Select NP_714544.1:p.Leu1626=
XM_011521277.1:c.5367C= (STRC) XP_011519579.1:p.Leu1789=
XM_011521278.1:c.4983C= (STRC) XP_011519580.1:p.Leu1661=
XM_011521279.1:c.4983C= (STRC) XP_011519581.1:p.Leu1661=