Canonical Allele Identifier: CA2173248249

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600889G= , CM000677.2:g.43600889G= GRCh38
NC_000015.9:g.43893087G= , CM000677.1:g.43893087G= GRCh37
NC_000015.8:g.41680379G= NCBI36
NG_011636.1:g.22912C=

Transcript Alleles

HGVS Amino-acid change
ENST00000450892.7:c.4827C= (STRC) MANE Select ENSP00000401513.2:p.Ile1609=
ENST00000411560.1:n.142+1356G= (CKMT1B)
ENST00000428650.5:c.*1860C= (STRC) ENSP00000415991.1:n.*1860C=
ENST00000440125.5:c.*2619C= (STRC) ENSP00000394866.1:n.*2619C=
ENST00000448437.6:n.1947C= (STRC)
ENST00000450892.6:c.4827C= (STRC) ENSP00000401513.2:p.Ile1609=
ENST00000460952.1:n.406C= (STRC)
ENST00000471703.5:n.2781C= (STRC)
ENST00000485556.5:n.3682C= (STRC)
ENST00000541030.5:c.2508C= (STRC) ENSP00000440413.1:p.Ile836=
NM_153700.2:c.4827C= (STRC) MANE Select NP_714544.1:p.Ile1609=
XM_011521277.1:c.5316C= (STRC) XP_011519579.1:p.Ile1772=
XM_011521278.1:c.4932C= (STRC) XP_011519580.1:p.Ile1644=
XM_011521279.1:c.4932C= (STRC) XP_011519581.1:p.Ile1644=