Canonical Allele Identifier: CA392163533

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601424C>G , CM000677.2:g.43601424C>G GRCh38
NC_000015.9:g.43893622C>G , CM000677.1:g.43893622C>G GRCh37
NC_000015.8:g.41680914C>G NCBI36
NG_011636.1:g.22377G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4673G>C (STRC) MANE Select ENSP00000401513.2:p.Gly1558Ala
ENST00000411560.1:n.142+1891C>G (CKMT1B)
ENST00000428650.5:c.*1706G>C (STRC) ENSP00000415991.1:n.*1706G>C
ENST00000440125.5:c.*2465G>C (STRC) ENSP00000394866.1:n.*2465G>C
ENST00000448437.6:n.1793G>C (STRC)
ENST00000450892.6:c.4673G>C (STRC) ENSP00000401513.2:p.Gly1558Ala
ENST00000460952.1:n.252G>C (STRC)
ENST00000471703.5:n.2627G>C (STRC)
ENST00000485556.5:n.3528G>C (STRC)
ENST00000493750.1:n.469G>C (STRC)
ENST00000541030.5:c.2354G>C (STRC) ENSP00000440413.1:p.Gly785Ala
NM_153700.2:c.4673G>C (STRC) MANE Select NP_714544.1:p.Gly1558Ala
XM_011521277.1:c.5162G>C (STRC) XP_011519579.1:p.Gly1721Ala
XM_011521278.1:c.4778G>C (STRC) XP_011519580.1:p.Gly1593Ala
XM_011521279.1:c.4778G>C (STRC) XP_011519581.1:p.Gly1593Ala