Canonical Allele Identifier: CA392157409

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599688A>C , CM000677.2:g.43599688A>C GRCh38
NC_000015.9:g.43891886A>C , CM000677.1:g.43891886A>C GRCh37
NC_000015.8:g.41679178A>C NCBI36
NG_011636.1:g.24113T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5312T>G (STRC) MANE Select ENSP00000401513.2:p.Leu1771Arg
ENST00000411560.1:n.142+155A>C (CKMT1B)
ENST00000428650.5:c.*2345T>G (STRC) ENSP00000415991.1:n.*2345T>G
ENST00000440125.5:c.*3104T>G (STRC) ENSP00000394866.1:n.*3104T>G
ENST00000448437.6:n.2432T>G (STRC)
ENST00000450892.6:c.5312T>G (STRC) ENSP00000401513.2:p.Leu1771Arg
ENST00000471703.5:n.3266T>G (STRC)
ENST00000485556.5:n.4167T>G (STRC)
ENST00000541030.5:c.2993T>G (STRC) ENSP00000440413.1:p.Leu998Arg
NM_153700.2:c.5312T>G (STRC) MANE Select NP_714544.1:p.Leu1771Arg
XM_011521277.1:c.5801T>G (STRC) XP_011519579.1:p.Leu1934Arg
XM_011521278.1:c.5417T>G (STRC) XP_011519580.1:p.Leu1806Arg
XM_011521279.1:c.5417T>G (STRC) XP_011519581.1:p.Leu1806Arg