Canonical Allele Identifier: CA2173252262

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43604721C= , CM000677.2:g.43604721C= GRCh38
NC_000015.9:g.43896919C= , CM000677.1:g.43896919C= GRCh37
NC_000015.8:g.41684211C= NCBI36
NG_011636.1:g.19080G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4056G= (STRC) MANE Select ENSP00000401513.2:p.Leu1352=
ENST00000411560.1:n.143-63C= (CKMT1B)
ENST00000428650.5:c.*1259G= (STRC) ENSP00000415991.1:n.*1259G=
ENST00000440125.5:c.*1848G= (STRC) ENSP00000394866.1:n.*1848G=
ENST00000448437.6:n.1665+3142G= (STRC)
ENST00000450892.6:c.4056G= (STRC) ENSP00000401513.2:p.Leu1352=
ENST00000455136.5:c.1087G= (STRC)
ENST00000471703.5:n.2010G= (STRC)
ENST00000485556.5:n.2911G= (STRC)
ENST00000541030.5:c.1737G= (STRC) ENSP00000440413.1:p.Leu579=
NM_153700.2:c.4056G= (STRC) MANE Select NP_714544.1:p.Leu1352=
XM_011521277.1:c.4545G= (STRC) XP_011519579.1:p.Leu1515=
XM_011521278.1:c.4161G= (STRC) XP_011519580.1:p.Leu1387=
XM_011521279.1:c.4161G= (STRC) XP_011519581.1:p.Leu1387=