Canonical Allele Identifier: CA2173251458
Community Standard Title: NM_153700.2(STRC):c.4351C= (p.Arg1451=)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43604020G= , CM000677.2:g.43604020G= GRCh38
NC_000015.9:g.43896218G= , CM000677.1:g.43896218G= GRCh37
NC_000015.8:g.41683510G= NCBI36
NG_011636.1:g.19781C=

Transcript Alleles

HGVS Amino-acid Change
NM_153700.2:c.4351C= (STRC) MANE Select NP_714544.1:p.Arg1451=
ENST00000450892.7:c.4351C= (STRC) MANE Select ENSP00000401513.2:p.Arg1451=
ENST00000411560.1:n.143-764G= (CKMT1B)
ENST00000428650.5:c.*1554C= (STRC) ENSP00000415991.1:n.*1554C=
ENST00000440125.5:c.*2143C= (STRC) ENSP00000394866.1:n.*2143C=
ENST00000448437.6:n.1666-2469C= (STRC)
ENST00000450892.6:c.4351C= (STRC) ENSP00000401513.2:p.Arg1451=
ENST00000471703.5:n.2305C= (STRC)
ENST00000485556.5:n.3206C= (STRC)
ENST00000541030.5:c.2032C= (STRC) ENSP00000440413.1:p.Arg678=
XM_011521277.1:c.4840C= (STRC) XP_011519579.1:p.Arg1614=
XM_011521278.1:c.4456C= (STRC) XP_011519580.1:p.Arg1486=
XM_011521279.1:c.4456C= (STRC) XP_011519581.1:p.Arg1486=