Canonical Allele Identifier: CA2173248126

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600655C= , CM000677.2:g.43600655C= GRCh38
NC_000015.9:g.43892853C= , CM000677.1:g.43892853C= GRCh37
NC_000015.8:g.41680145C= NCBI36
NG_011636.1:g.23146G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4872G= (STRC) MANE Select ENSP00000401513.2:p.Leu1624=
ENST00000411560.1:n.142+1122C= (CKMT1B)
ENST00000428650.5:c.*1905G= (STRC) ENSP00000415991.1:n.*1905G=
ENST00000440125.5:c.*2664G= (STRC) ENSP00000394866.1:n.*2664G=
ENST00000448437.6:n.1992G= (STRC)
ENST00000450892.6:c.4872G= (STRC) ENSP00000401513.2:p.Leu1624=
ENST00000460952.1:n.451G= (STRC)
ENST00000471703.5:n.2826G= (STRC)
ENST00000485556.5:n.3727G= (STRC)
ENST00000541030.5:c.2553G= (STRC) ENSP00000440413.1:p.Leu851=
NM_153700.2:c.4872G= (STRC) MANE Select NP_714544.1:p.Leu1624=
XM_011521277.1:c.5361G= (STRC) XP_011519579.1:p.Leu1787=
XM_011521278.1:c.4977G= (STRC) XP_011519580.1:p.Leu1659=
XM_011521279.1:c.4977G= (STRC) XP_011519581.1:p.Leu1659=