Canonical Allele Identifier: CA2173248300

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600991G= , CM000677.2:g.43600991G= GRCh38
NC_000015.9:g.43893189G= , CM000677.1:g.43893189G= GRCh37
NC_000015.8:g.41680481G= NCBI36
NG_011636.1:g.22810C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4725C= (STRC) MANE Select ENSP00000401513.2:p.Phe1575=
ENST00000411560.1:n.142+1458G= (CKMT1B)
ENST00000428650.5:c.*1758C= (STRC) ENSP00000415991.1:n.*1758C=
ENST00000440125.5:c.*2517C= (STRC) ENSP00000394866.1:n.*2517C=
ENST00000448437.6:n.1845C= (STRC)
ENST00000450892.6:c.4725C= (STRC) ENSP00000401513.2:p.Phe1575=
ENST00000460952.1:n.304C= (STRC)
ENST00000471703.5:n.2679C= (STRC)
ENST00000485556.5:n.3580C= (STRC)
ENST00000541030.5:c.2406C= (STRC) ENSP00000440413.1:p.Phe802=
NM_153700.2:c.4725C= (STRC) MANE Select NP_714544.1:p.Phe1575=
XM_011521277.1:c.5214C= (STRC) XP_011519579.1:p.Phe1738=
XM_011521278.1:c.4830C= (STRC) XP_011519580.1:p.Phe1610=
XM_011521279.1:c.4830C= (STRC) XP_011519581.1:p.Phe1610=