Canonical Allele Identifier: CA2173248537

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601418A= , CM000677.2:g.43601418A= GRCh38
NC_000015.9:g.43893616A= , CM000677.1:g.43893616A= GRCh37
NC_000015.8:g.41680908A= NCBI36
NG_011636.1:g.22383T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4679T= (STRC) MANE Select ENSP00000401513.2:p.Ile1560=
ENST00000411560.1:n.142+1885A= (CKMT1B)
ENST00000428650.5:c.*1712T= (STRC) ENSP00000415991.1:n.*1712T=
ENST00000440125.5:c.*2471T= (STRC) ENSP00000394866.1:n.*2471T=
ENST00000448437.6:n.1799T= (STRC)
ENST00000450892.6:c.4679T= (STRC) ENSP00000401513.2:p.Ile1560=
ENST00000460952.1:n.258T= (STRC)
ENST00000471703.5:n.2633T= (STRC)
ENST00000485556.5:n.3534T= (STRC)
ENST00000493750.1:n.475T= (STRC)
ENST00000541030.5:c.2360T= (STRC) ENSP00000440413.1:p.Ile787=
NM_153700.2:c.4679T= (STRC) MANE Select NP_714544.1:p.Ile1560=
XM_011521277.1:c.5168T= (STRC) XP_011519579.1:p.Ile1723=
XM_011521278.1:c.4784T= (STRC) XP_011519580.1:p.Ile1595=
XM_011521279.1:c.4784T= (STRC) XP_011519581.1:p.Ile1595=