Canonical Allele Identifier: CA2173251922

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43604397G= , CM000677.2:g.43604397G= GRCh38
NC_000015.9:g.43896595G= , CM000677.1:g.43896595G= GRCh37
NC_000015.8:g.41683887G= NCBI36
NG_011636.1:g.19404C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4182C= (STRC) MANE Select ENSP00000401513.2:p.Phe1394=
ENST00000411560.1:n.143-387G= (CKMT1B)
ENST00000428650.5:c.*1385C= (STRC) ENSP00000415991.1:n.*1385C=
ENST00000440125.5:c.*1974C= (STRC) ENSP00000394866.1:n.*1974C=
ENST00000448437.6:n.1666-2846C= (STRC)
ENST00000450892.6:c.4182C= (STRC) ENSP00000401513.2:p.Phe1394=
ENST00000471703.5:n.2136C= (STRC)
ENST00000485556.5:n.3037C= (STRC)
ENST00000541030.5:c.1863C= (STRC) ENSP00000440413.1:p.Phe621=
NM_153700.2:c.4182C= (STRC) MANE Select NP_714544.1:p.Phe1394=
XM_011521277.1:c.4671C= (STRC) XP_011519579.1:p.Phe1557=
XM_011521278.1:c.4287C= (STRC) XP_011519580.1:p.Phe1429=
XM_011521279.1:c.4287C= (STRC) XP_011519581.1:p.Phe1429=