Canonical Allele Identifier: CA392163936

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601497G>A , CM000677.2:g.43601497G>A GRCh38
NC_000015.9:g.43893695G>A , CM000677.1:g.43893695G>A GRCh37
NC_000015.8:g.41680987G>A NCBI36
NG_011636.1:g.22304C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4600C>T (STRC) MANE Select ENSP00000401513.2:p.Leu1534Phe
ENST00000411560.1:n.142+1964G>A (CKMT1B)
ENST00000428650.5:c.*1633C>T (STRC) ENSP00000415991.1:n.*1633C>T
ENST00000440125.5:c.*2392C>T (STRC) ENSP00000394866.1:n.*2392C>T
ENST00000448437.6:n.1720C>T (STRC)
ENST00000450892.6:c.4600C>T (STRC) ENSP00000401513.2:p.Leu1534Phe
ENST00000460952.1:n.179C>T (STRC)
ENST00000471703.5:n.2554C>T (STRC)
ENST00000485556.5:n.3455C>T (STRC)
ENST00000493750.1:n.396C>T (STRC)
ENST00000541030.5:c.2281C>T (STRC) ENSP00000440413.1:p.Leu761Phe
NM_153700.2:c.4600C>T (STRC) MANE Select NP_714544.1:p.Leu1534Phe
XM_011521277.1:c.5089C>T (STRC) XP_011519579.1:p.Leu1697Phe
XM_011521278.1:c.4705C>T (STRC) XP_011519580.1:p.Leu1569Phe
XM_011521279.1:c.4705C>T (STRC) XP_011519581.1:p.Leu1569Phe