Canonical Allele Identifier: CA2173248122

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600646C= , CM000677.2:g.43600646C= GRCh38
NC_000015.9:g.43892844C= , CM000677.1:g.43892844C= GRCh37
NC_000015.8:g.41680136C= NCBI36
NG_011636.1:g.23155G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4881G= (STRC) MANE Select ENSP00000401513.2:p.Gln1627=
ENST00000411560.1:n.142+1113C= (CKMT1B)
ENST00000428650.5:c.*1914G= (STRC) ENSP00000415991.1:n.*1914G=
ENST00000440125.5:c.*2673G= (STRC) ENSP00000394866.1:n.*2673G=
ENST00000448437.6:n.2001G= (STRC)
ENST00000450892.6:c.4881G= (STRC) ENSP00000401513.2:p.Gln1627=
ENST00000460952.1:n.460G= (STRC)
ENST00000471703.5:n.2835G= (STRC)
ENST00000485556.5:n.3736G= (STRC)
ENST00000541030.5:c.2562G= (STRC) ENSP00000440413.1:p.Gln854=
NM_153700.2:c.4881G= (STRC) MANE Select NP_714544.1:p.Gln1627=
XM_011521277.1:c.5370G= (STRC) XP_011519579.1:p.Gln1790=
XM_011521278.1:c.4986G= (STRC) XP_011519580.1:p.Gln1662=
XM_011521279.1:c.4986G= (STRC) XP_011519581.1:p.Gln1662=