Canonical Allele Identifier: CA392163416

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601405G>T , CM000677.2:g.43601405G>T GRCh38
NC_000015.9:g.43893603G>T , CM000677.1:g.43893603G>T GRCh37
NC_000015.8:g.41680895G>T NCBI36
NG_011636.1:g.22396C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4692C>A (STRC) MANE Select ENSP00000401513.2:p.Ser1564Arg
ENST00000411560.1:n.142+1872G>T (CKMT1B)
ENST00000428650.5:c.*1725C>A (STRC) ENSP00000415991.1:n.*1725C>A
ENST00000440125.5:c.*2484C>A (STRC) ENSP00000394866.1:n.*2484C>A
ENST00000448437.6:n.1812C>A (STRC)
ENST00000450892.6:c.4692C>A (STRC) ENSP00000401513.2:p.Ser1564Arg
ENST00000460952.1:n.271C>A (STRC)
ENST00000471703.5:n.2646C>A (STRC)
ENST00000485556.5:n.3547C>A (STRC)
ENST00000493750.1:n.488C>A (STRC)
ENST00000541030.5:c.2373C>A (STRC) ENSP00000440413.1:p.Ser791Arg
NM_153700.2:c.4692C>A (STRC) MANE Select NP_714544.1:p.Ser1564Arg
XM_011521277.1:c.5181C>A (STRC) XP_011519579.1:p.Ser1727Arg
XM_011521278.1:c.4797C>A (STRC) XP_011519580.1:p.Ser1599Arg
XM_011521279.1:c.4797C>A (STRC) XP_011519581.1:p.Ser1599Arg