Canonical Allele Identifier: CA392164130

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601535C>A , CM000677.2:g.43601535C>A GRCh38
NC_000015.9:g.43893733C>A , CM000677.1:g.43893733C>A GRCh37
NC_000015.8:g.41681025C>A NCBI36
NG_011636.1:g.22266G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4562G>T (STRC) MANE Select ENSP00000401513.2:p.Arg1521Leu
ENST00000411560.1:n.142+2002C>A (CKMT1B)
ENST00000428650.5:c.*1595G>T (STRC) ENSP00000415991.1:n.*1595G>T
ENST00000440125.5:c.*2354G>T (STRC) ENSP00000394866.1:n.*2354G>T
ENST00000448437.6:n.1682G>T (STRC)
ENST00000450892.6:c.4562G>T (STRC) ENSP00000401513.2:p.Arg1521Leu
ENST00000460952.1:n.141G>T (STRC)
ENST00000471703.5:n.2516G>T (STRC)
ENST00000485556.5:n.3417G>T (STRC)
ENST00000493750.1:n.358G>T (STRC)
ENST00000541030.5:c.2243G>T (STRC) ENSP00000440413.1:p.Arg748Leu
NM_153700.2:c.4562G>T (STRC) MANE Select NP_714544.1:p.Arg1521Leu
XM_011521277.1:c.5051G>T (STRC) XP_011519579.1:p.Arg1684Leu
XM_011521278.1:c.4667G>T (STRC) XP_011519580.1:p.Arg1556Leu
XM_011521279.1:c.4667G>T (STRC) XP_011519581.1:p.Arg1556Leu