Canonical Allele Identifier: CA2173248111

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600628C= , CM000677.2:g.43600628C= GRCh38
NC_000015.9:g.43892826C= , CM000677.1:g.43892826C= GRCh37
NC_000015.8:g.41680118C= NCBI36
NG_011636.1:g.23173G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4899G= (STRC) MANE Select ENSP00000401513.2:p.Leu1633=
ENST00000411560.1:n.142+1095C= (CKMT1B)
ENST00000428650.5:c.*1932G= (STRC) ENSP00000415991.1:n.*1932G=
ENST00000440125.5:c.*2691G= (STRC) ENSP00000394866.1:n.*2691G=
ENST00000448437.6:n.2019G= (STRC)
ENST00000450892.6:c.4899G= (STRC) ENSP00000401513.2:p.Leu1633=
ENST00000460952.1:n.478G= (STRC)
ENST00000471703.5:n.2853G= (STRC)
ENST00000485556.5:n.3754G= (STRC)
ENST00000541030.5:c.2580G= (STRC) ENSP00000440413.1:p.Leu860=
NM_153700.2:c.4899G= (STRC) MANE Select NP_714544.1:p.Leu1633=
XM_011521277.1:c.5388G= (STRC) XP_011519579.1:p.Leu1796=
XM_011521278.1:c.5004G= (STRC) XP_011519580.1:p.Leu1668=
XM_011521279.1:c.5004G= (STRC) XP_011519581.1:p.Leu1668=