Canonical Allele Identifier: CA2173247780

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599751G= , CM000677.2:g.43599751G= GRCh38
NC_000015.9:g.43891949G= , CM000677.1:g.43891949G= GRCh37
NC_000015.8:g.41679241G= NCBI36
NG_011636.1:g.24050C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5249C= (STRC) MANE Select ENSP00000401513.2:p.Thr1750=
ENST00000411560.1:n.142+218G= (CKMT1B)
ENST00000428650.5:c.*2282C= (STRC) ENSP00000415991.1:n.*2282C=
ENST00000440125.5:c.*3041C= (STRC) ENSP00000394866.1:n.*3041C=
ENST00000448437.6:n.2369C= (STRC)
ENST00000450892.6:c.5249C= (STRC) ENSP00000401513.2:p.Thr1750=
ENST00000471703.5:n.3203C= (STRC)
ENST00000485556.5:n.4104C= (STRC)
ENST00000541030.5:c.2930C= (STRC) ENSP00000440413.1:p.Thr977=
NM_153700.2:c.5249C= (STRC) MANE Select NP_714544.1:p.Thr1750=
XM_011521277.1:c.5738C= (STRC) XP_011519579.1:p.Thr1913=
XM_011521278.1:c.5354C= (STRC) XP_011519580.1:p.Thr1785=
XM_011521279.1:c.5354C= (STRC) XP_011519581.1:p.Thr1785=