Canonical Allele Identifier: CA392160761

Linked Data

dbSNP Id: rs2085658082

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600638T>G , CM000677.2:g.43600638T>G GRCh38
NC_000015.9:g.43892836T>G , CM000677.1:g.43892836T>G GRCh37
NC_000015.8:g.41680128T>G NCBI36
NG_011636.1:g.23163A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4889A>C (STRC) MANE Select ENSP00000401513.2:p.Glu1630Ala
ENST00000411560.1:n.142+1105T>G (CKMT1B)
ENST00000428650.5:c.*1922A>C (STRC) ENSP00000415991.1:n.*1922A>C
ENST00000440125.5:c.*2681A>C (STRC) ENSP00000394866.1:n.*2681A>C
ENST00000448437.6:n.2009A>C (STRC)
ENST00000450892.6:c.4889A>C (STRC) ENSP00000401513.2:p.Glu1630Ala
ENST00000460952.1:n.468A>C (STRC)
ENST00000471703.5:n.2843A>C (STRC)
ENST00000485556.5:n.3744A>C (STRC)
ENST00000541030.5:c.2570A>C (STRC) ENSP00000440413.1:p.Glu857Ala
NM_153700.2:c.4889A>C (STRC) MANE Select NP_714544.1:p.Glu1630Ala
XM_011521277.1:c.5378A>C (STRC) XP_011519579.1:p.Glu1793Ala
XM_011521278.1:c.4994A>C (STRC) XP_011519580.1:p.Glu1665Ala
XM_011521279.1:c.4994A>C (STRC) XP_011519581.1:p.Glu1665Ala