Canonical Allele Identifier: CA392168768

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43604726G>C , CM000677.2:g.43604726G>C GRCh38
NC_000015.9:g.43896924G>C , CM000677.1:g.43896924G>C GRCh37
NC_000015.8:g.41684216G>C NCBI36
NG_011636.1:g.19075C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4051C>G (STRC) MANE Select ENSP00000401513.2:p.Gln1351Glu
ENST00000411560.1:n.143-58G>C (CKMT1B)
ENST00000428650.5:c.*1254C>G (STRC) ENSP00000415991.1:n.*1254C>G
ENST00000440125.5:c.*1843C>G (STRC) ENSP00000394866.1:n.*1843C>G
ENST00000448437.6:n.1665+3137C>G (STRC)
ENST00000450892.6:c.4051C>G (STRC) ENSP00000401513.2:p.Gln1351Glu
ENST00000455136.5:c.1082C>G (STRC)
ENST00000471703.5:n.2005C>G (STRC)
ENST00000485556.5:n.2906C>G (STRC)
ENST00000541030.5:c.1732C>G (STRC) ENSP00000440413.1:p.Gln578Glu
NM_153700.2:c.4051C>G (STRC) MANE Select NP_714544.1:p.Gln1351Glu
XM_011521277.1:c.4540C>G (STRC) XP_011519579.1:p.Gln1514Glu
XM_011521278.1:c.4156C>G (STRC) XP_011519580.1:p.Gln1386Glu
XM_011521279.1:c.4156C>G (STRC) XP_011519581.1:p.Gln1386Glu