Canonical Allele Identifier: CA2173248099

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600610T= , CM000677.2:g.43600610T= GRCh38
NC_000015.9:g.43892808T= , CM000677.1:g.43892808T= GRCh37
NC_000015.8:g.41680100T= NCBI36
NG_011636.1:g.23191A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4917A= (STRC) MANE Select ENSP00000401513.2:p.Leu1639=
ENST00000411560.1:n.142+1077T= (CKMT1B)
ENST00000428650.5:c.*1950A= (STRC) ENSP00000415991.1:n.*1950A=
ENST00000440125.5:c.*2709A= (STRC) ENSP00000394866.1:n.*2709A=
ENST00000448437.6:n.2037A= (STRC)
ENST00000450892.6:c.4917A= (STRC) ENSP00000401513.2:p.Leu1639=
ENST00000460952.1:n.496A= (STRC)
ENST00000471703.5:n.2871A= (STRC)
ENST00000485556.5:n.3772A= (STRC)
ENST00000541030.5:c.2598A= (STRC) ENSP00000440413.1:p.Leu866=
NM_153700.2:c.4917A= (STRC) MANE Select NP_714544.1:p.Leu1639=
XM_011521277.1:c.5406A= (STRC) XP_011519579.1:p.Leu1802=
XM_011521278.1:c.5022A= (STRC) XP_011519580.1:p.Leu1674=
XM_011521279.1:c.5022A= (STRC) XP_011519581.1:p.Leu1674=