Canonical Allele Identifier: CA2173247869
Community Standard Title: NM_153700.2(STRC):c.5188C= (p.Arg1730=)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600011G= , CM000677.2:g.43600011G= GRCh38
NC_000015.9:g.43892209G= , CM000677.1:g.43892209G= GRCh37
NC_000015.8:g.41679501G= NCBI36
NG_011636.1:g.23790C=

Transcript Alleles

HGVS Amino-acid Change
NM_153700.2:c.5188C= (STRC) MANE Select NP_714544.1:p.Arg1730=
ENST00000450892.7:c.5188C= (STRC) MANE Select ENSP00000401513.2:p.Arg1730=
ENST00000411560.1:n.142+478G= (CKMT1B)
ENST00000428650.5:c.*2221C= (STRC) ENSP00000415991.1:n.*2221C=
ENST00000440125.5:c.*2980C= (STRC) ENSP00000394866.1:n.*2980C=
ENST00000448437.6:n.2308C= (STRC)
ENST00000450892.6:c.5188C= (STRC) ENSP00000401513.2:p.Arg1730=
ENST00000471703.5:n.3142C= (STRC)
ENST00000485556.5:n.4043C= (STRC)
ENST00000541030.5:c.2869C= (STRC) ENSP00000440413.1:p.Arg957=
XM_011521277.1:c.5677C= (STRC) XP_011519579.1:p.Arg1893=
XM_011521278.1:c.5293C= (STRC) XP_011519580.1:p.Arg1765=
XM_011521279.1:c.5293C= (STRC) XP_011519581.1:p.Arg1765=