Canonical Allele Identifier: CA392164038

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601518G>C , CM000677.2:g.43601518G>C GRCh38
NC_000015.9:g.43893716G>C , CM000677.1:g.43893716G>C GRCh37
NC_000015.8:g.41681008G>C NCBI36
NG_011636.1:g.22283C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4579C>G (STRC) MANE Select ENSP00000401513.2:p.Gln1527Glu
ENST00000411560.1:n.142+1985G>C (CKMT1B)
ENST00000428650.5:c.*1612C>G (STRC) ENSP00000415991.1:n.*1612C>G
ENST00000440125.5:c.*2371C>G (STRC) ENSP00000394866.1:n.*2371C>G
ENST00000448437.6:n.1699C>G (STRC)
ENST00000450892.6:c.4579C>G (STRC) ENSP00000401513.2:p.Gln1527Glu
ENST00000460952.1:n.158C>G (STRC)
ENST00000471703.5:n.2533C>G (STRC)
ENST00000485556.5:n.3434C>G (STRC)
ENST00000493750.1:n.375C>G (STRC)
ENST00000541030.5:c.2260C>G (STRC) ENSP00000440413.1:p.Gln754Glu
NM_153700.2:c.4579C>G (STRC) MANE Select NP_714544.1:p.Gln1527Glu
XM_011521277.1:c.5068C>G (STRC) XP_011519579.1:p.Gln1690Glu
XM_011521278.1:c.4684C>G (STRC) XP_011519580.1:p.Gln1562Glu
XM_011521279.1:c.4684C>G (STRC) XP_011519581.1:p.Gln1562Glu