Canonical Allele Identifier: CA2173251915

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43604384C= , CM000677.2:g.43604384C= GRCh38
NC_000015.9:g.43896582C= , CM000677.1:g.43896582C= GRCh37
NC_000015.8:g.41683874C= NCBI36
NG_011636.1:g.19417G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4195G= (STRC) MANE Select ENSP00000401513.2:p.Glu1399=
ENST00000411560.1:n.143-400C= (CKMT1B)
ENST00000428650.5:c.*1398G= (STRC) ENSP00000415991.1:n.*1398G=
ENST00000440125.5:c.*1987G= (STRC) ENSP00000394866.1:n.*1987G=
ENST00000448437.6:n.1666-2833G= (STRC)
ENST00000450892.6:c.4195G= (STRC) ENSP00000401513.2:p.Glu1399=
ENST00000471703.5:n.2149G= (STRC)
ENST00000485556.5:n.3050G= (STRC)
ENST00000541030.5:c.1876G= (STRC) ENSP00000440413.1:p.Glu626=
NM_153700.2:c.4195G= (STRC) MANE Select NP_714544.1:p.Glu1399=
XM_011521277.1:c.4684G= (STRC) XP_011519579.1:p.Glu1562=
XM_011521278.1:c.4300G= (STRC) XP_011519580.1:p.Glu1434=
XM_011521279.1:c.4300G= (STRC) XP_011519581.1:p.Glu1434=