Canonical Allele Identifier: CA392162380

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600680T>C , CM000677.2:g.43600680T>C GRCh38
NC_000015.9:g.43892878T>C , CM000677.1:g.43892878T>C GRCh37
NC_000015.8:g.41680170T>C NCBI36
NG_011636.1:g.23121A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4847A>G (STRC) MANE Select ENSP00000401513.2:p.Gln1616Arg
ENST00000411560.1:n.142+1147T>C (CKMT1B)
ENST00000428650.5:c.*1880A>G (STRC) ENSP00000415991.1:n.*1880A>G
ENST00000440125.5:c.*2639A>G (STRC) ENSP00000394866.1:n.*2639A>G
ENST00000448437.6:n.1967A>G (STRC)
ENST00000450892.6:c.4847A>G (STRC) ENSP00000401513.2:p.Gln1616Arg
ENST00000460952.1:n.426A>G (STRC)
ENST00000471703.5:n.2801A>G (STRC)
ENST00000485556.5:n.3702A>G (STRC)
ENST00000541030.5:c.2528A>G (STRC) ENSP00000440413.1:p.Gln843Arg
NM_153700.2:c.4847A>G (STRC) MANE Select NP_714544.1:p.Gln1616Arg
XM_011521277.1:c.5336A>G (STRC) XP_011519579.1:p.Gln1779Arg
XM_011521278.1:c.4952A>G (STRC) XP_011519580.1:p.Gln1651Arg
XM_011521279.1:c.4952A>G (STRC) XP_011519581.1:p.Gln1651Arg