Canonical Allele Identifier: CA2173248566

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601483T= , CM000677.2:g.43601483T= GRCh38
NC_000015.9:g.43893681T= , CM000677.1:g.43893681T= GRCh37
NC_000015.8:g.41680973T= NCBI36
NG_011636.1:g.22318A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4614A= (STRC) MANE Select ENSP00000401513.2:p.Leu1538=
ENST00000411560.1:n.142+1950T= (CKMT1B)
ENST00000428650.5:c.*1647A= (STRC) ENSP00000415991.1:n.*1647A=
ENST00000440125.5:c.*2406A= (STRC) ENSP00000394866.1:n.*2406A=
ENST00000448437.6:n.1734A= (STRC)
ENST00000450892.6:c.4614A= (STRC) ENSP00000401513.2:p.Leu1538=
ENST00000460952.1:n.193A= (STRC)
ENST00000471703.5:n.2568A= (STRC)
ENST00000485556.5:n.3469A= (STRC)
ENST00000493750.1:n.410A= (STRC)
ENST00000541030.5:c.2295A= (STRC) ENSP00000440413.1:p.Leu765=
NM_153700.2:c.4614A= (STRC) MANE Select NP_714544.1:p.Leu1538=
XM_011521277.1:c.5103A= (STRC) XP_011519579.1:p.Leu1701=
XM_011521278.1:c.4719A= (STRC) XP_011519580.1:p.Leu1573=
XM_011521279.1:c.4719A= (STRC) XP_011519581.1:p.Leu1573=