Canonical Allele Identifier: CA392157714

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599739A>C , CM000677.2:g.43599739A>C GRCh38
NC_000015.9:g.43891937A>C , CM000677.1:g.43891937A>C GRCh37
NC_000015.8:g.41679229A>C NCBI36
NG_011636.1:g.24062T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5261T>G (STRC) MANE Select ENSP00000401513.2:p.Leu1754Arg
ENST00000411560.1:n.142+206A>C (CKMT1B)
ENST00000428650.5:c.*2294T>G (STRC) ENSP00000415991.1:n.*2294T>G
ENST00000440125.5:c.*3053T>G (STRC) ENSP00000394866.1:n.*3053T>G
ENST00000448437.6:n.2381T>G (STRC)
ENST00000450892.6:c.5261T>G (STRC) ENSP00000401513.2:p.Leu1754Arg
ENST00000471703.5:n.3215T>G (STRC)
ENST00000485556.5:n.4116T>G (STRC)
ENST00000541030.5:c.2942T>G (STRC) ENSP00000440413.1:p.Leu981Arg
NM_153700.2:c.5261T>G (STRC) MANE Select NP_714544.1:p.Leu1754Arg
XM_011521277.1:c.5750T>G (STRC) XP_011519579.1:p.Leu1917Arg
XM_011521278.1:c.5366T>G (STRC) XP_011519580.1:p.Leu1789Arg
XM_011521279.1:c.5366T>G (STRC) XP_011519581.1:p.Leu1789Arg