Canonical Allele Identifier: CA2173251912

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43604382C= , CM000677.2:g.43604382C= GRCh38
NC_000015.9:g.43896580C= , CM000677.1:g.43896580C= GRCh37
NC_000015.8:g.41683872C= NCBI36
NG_011636.1:g.19419G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4197G= (STRC) MANE Select ENSP00000401513.2:p.Glu1399=
ENST00000411560.1:n.143-402C= (CKMT1B)
ENST00000428650.5:c.*1400G= (STRC) ENSP00000415991.1:n.*1400G=
ENST00000440125.5:c.*1989G= (STRC) ENSP00000394866.1:n.*1989G=
ENST00000448437.6:n.1666-2831G= (STRC)
ENST00000450892.6:c.4197G= (STRC) ENSP00000401513.2:p.Glu1399=
ENST00000471703.5:n.2151G= (STRC)
ENST00000485556.5:n.3052G= (STRC)
ENST00000541030.5:c.1878G= (STRC) ENSP00000440413.1:p.Glu626=
NM_153700.2:c.4197G= (STRC) MANE Select NP_714544.1:p.Glu1399=
XM_011521277.1:c.4686G= (STRC) XP_011519579.1:p.Glu1562=
XM_011521278.1:c.4302G= (STRC) XP_011519580.1:p.Glu1434=
XM_011521279.1:c.4302G= (STRC) XP_011519581.1:p.Glu1434=