Canonical Allele Identifier: CA392157940

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599968T>A , CM000677.2:g.43599968T>A GRCh38
NC_000015.9:g.43892166T>A , CM000677.1:g.43892166T>A GRCh37
NC_000015.8:g.41679458T>A NCBI36
NG_011636.1:g.23833A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5231A>T (STRC) MANE Select ENSP00000401513.2:p.Glu1744Val
ENST00000411560.1:n.142+435T>A (CKMT1B)
ENST00000428650.5:c.*2264A>T (STRC) ENSP00000415991.1:n.*2264A>T
ENST00000440125.5:c.*3023A>T (STRC) ENSP00000394866.1:n.*3023A>T
ENST00000448437.6:n.2351A>T (STRC)
ENST00000450892.6:c.5231A>T (STRC) ENSP00000401513.2:p.Glu1744Val
ENST00000471703.5:n.3185A>T (STRC)
ENST00000485556.5:n.4086A>T (STRC)
ENST00000541030.5:c.2912A>T (STRC) ENSP00000440413.1:p.Glu971Val
NM_153700.2:c.5231A>T (STRC) MANE Select NP_714544.1:p.Glu1744Val
XM_011521277.1:c.5720A>T (STRC) XP_011519579.1:p.Glu1907Val
XM_011521278.1:c.5336A>T (STRC) XP_011519580.1:p.Glu1779Val
XM_011521279.1:c.5336A>T (STRC) XP_011519581.1:p.Glu1779Val