Canonical Allele Identifier: CA392168736

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43604720G>C , CM000677.2:g.43604720G>C GRCh38
NC_000015.9:g.43896918G>C , CM000677.1:g.43896918G>C GRCh37
NC_000015.8:g.41684210G>C NCBI36
NG_011636.1:g.19081C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4057C>G (STRC) MANE Select ENSP00000401513.2:p.Gln1353Glu
ENST00000411560.1:n.143-64G>C (CKMT1B)
ENST00000428650.5:c.*1260C>G (STRC) ENSP00000415991.1:n.*1260C>G
ENST00000440125.5:c.*1849C>G (STRC) ENSP00000394866.1:n.*1849C>G
ENST00000448437.6:n.1665+3143C>G (STRC)
ENST00000450892.6:c.4057C>G (STRC) ENSP00000401513.2:p.Gln1353Glu
ENST00000455136.5:c.1088C>G (STRC)
ENST00000471703.5:n.2011C>G (STRC)
ENST00000485556.5:n.2912C>G (STRC)
ENST00000541030.5:c.1738C>G (STRC) ENSP00000440413.1:p.Gln580Glu
NM_153700.2:c.4057C>G (STRC) MANE Select NP_714544.1:p.Gln1353Glu
XM_011521277.1:c.4546C>G (STRC) XP_011519579.1:p.Gln1516Glu
XM_011521278.1:c.4162C>G (STRC) XP_011519580.1:p.Gln1388Glu
XM_011521279.1:c.4162C>G (STRC) XP_011519581.1:p.Gln1388Glu