Canonical Allele Identifier: CA392163812

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601473C>T , CM000677.2:g.43601473C>T GRCh38
NC_000015.9:g.43893671C>T , CM000677.1:g.43893671C>T GRCh37
NC_000015.8:g.41680963C>T NCBI36
NG_011636.1:g.22328G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4624G>A (STRC) MANE Select ENSP00000401513.2:p.Glu1542Lys
ENST00000411560.1:n.142+1940C>T (CKMT1B)
ENST00000428650.5:c.*1657G>A (STRC) ENSP00000415991.1:n.*1657G>A
ENST00000440125.5:c.*2416G>A (STRC) ENSP00000394866.1:n.*2416G>A
ENST00000448437.6:n.1744G>A (STRC)
ENST00000450892.6:c.4624G>A (STRC) ENSP00000401513.2:p.Glu1542Lys
ENST00000460952.1:n.203G>A (STRC)
ENST00000471703.5:n.2578G>A (STRC)
ENST00000485556.5:n.3479G>A (STRC)
ENST00000493750.1:n.420G>A (STRC)
ENST00000541030.5:c.2305G>A (STRC) ENSP00000440413.1:p.Glu769Lys
NM_153700.2:c.4624G>A (STRC) MANE Select NP_714544.1:p.Glu1542Lys
XM_011521277.1:c.5113G>A (STRC) XP_011519579.1:p.Glu1705Lys
XM_011521278.1:c.4729G>A (STRC) XP_011519580.1:p.Glu1577Lys
XM_011521279.1:c.4729G>A (STRC) XP_011519581.1:p.Glu1577Lys