Canonical Allele Identifier: CA392164104

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601529A>T , CM000677.2:g.43601529A>T GRCh38
NC_000015.9:g.43893727A>T , CM000677.1:g.43893727A>T GRCh37
NC_000015.8:g.41681019A>T NCBI36
NG_011636.1:g.22272T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4568T>A (STRC) MANE Select ENSP00000401513.2:p.Phe1523Tyr
ENST00000411560.1:n.142+1996A>T (CKMT1B)
ENST00000428650.5:c.*1601T>A (STRC) ENSP00000415991.1:n.*1601T>A
ENST00000440125.5:c.*2360T>A (STRC) ENSP00000394866.1:n.*2360T>A
ENST00000448437.6:n.1688T>A (STRC)
ENST00000450892.6:c.4568T>A (STRC) ENSP00000401513.2:p.Phe1523Tyr
ENST00000460952.1:n.147T>A (STRC)
ENST00000471703.5:n.2522T>A (STRC)
ENST00000485556.5:n.3423T>A (STRC)
ENST00000493750.1:n.364T>A (STRC)
ENST00000541030.5:c.2249T>A (STRC) ENSP00000440413.1:p.Phe750Tyr
NM_153700.2:c.4568T>A (STRC) MANE Select NP_714544.1:p.Phe1523Tyr
XM_011521277.1:c.5057T>A (STRC) XP_011519579.1:p.Phe1686Tyr
XM_011521278.1:c.4673T>A (STRC) XP_011519580.1:p.Phe1558Tyr
XM_011521279.1:c.4673T>A (STRC) XP_011519581.1:p.Phe1558Tyr