Canonical Allele Identifier: CA2173248531

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601408C= , CM000677.2:g.43601408C= GRCh38
NC_000015.9:g.43893606C= , CM000677.1:g.43893606C= GRCh37
NC_000015.8:g.41680898C= NCBI36
NG_011636.1:g.22393G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4689G= (STRC) MANE Select ENSP00000401513.2:p.Trp1563=
ENST00000411560.1:n.142+1875C= (CKMT1B)
ENST00000428650.5:c.*1722G= (STRC) ENSP00000415991.1:n.*1722G=
ENST00000440125.5:c.*2481G= (STRC) ENSP00000394866.1:n.*2481G=
ENST00000448437.6:n.1809G= (STRC)
ENST00000450892.6:c.4689G= (STRC) ENSP00000401513.2:p.Trp1563=
ENST00000460952.1:n.268G= (STRC)
ENST00000471703.5:n.2643G= (STRC)
ENST00000485556.5:n.3544G= (STRC)
ENST00000493750.1:n.485G= (STRC)
ENST00000541030.5:c.2370G= (STRC) ENSP00000440413.1:p.Trp790=
NM_153700.2:c.4689G= (STRC) MANE Select NP_714544.1:p.Trp1563=
XM_011521277.1:c.5178G= (STRC) XP_011519579.1:p.Trp1726=
XM_011521278.1:c.4794G= (STRC) XP_011519580.1:p.Trp1598=
XM_011521279.1:c.4794G= (STRC) XP_011519581.1:p.Trp1598=