Canonical Allele Identifier: CA392159805

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600539A>C , CM000677.2:g.43600539A>C GRCh38
NC_000015.9:g.43892737A>C , CM000677.1:g.43892737A>C GRCh37
NC_000015.8:g.41680029A>C NCBI36
NG_011636.1:g.23262T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4988T>G (STRC) MANE Select ENSP00000401513.2:p.Ile1663Arg
ENST00000411560.1:n.142+1006A>C (CKMT1B)
ENST00000428650.5:c.*2021T>G (STRC) ENSP00000415991.1:n.*2021T>G
ENST00000440125.5:c.*2780T>G (STRC) ENSP00000394866.1:n.*2780T>G
ENST00000448437.6:n.2108T>G (STRC)
ENST00000450892.6:c.4988T>G (STRC) ENSP00000401513.2:p.Ile1663Arg
ENST00000471703.5:n.2942T>G (STRC)
ENST00000485556.5:n.3843T>G (STRC)
ENST00000541030.5:c.2669T>G (STRC) ENSP00000440413.1:p.Ile890Arg
NM_153700.2:c.4988T>G (STRC) MANE Select NP_714544.1:p.Ile1663Arg
XM_011521277.1:c.5477T>G (STRC) XP_011519579.1:p.Ile1826Arg
XM_011521278.1:c.5093T>G (STRC) XP_011519580.1:p.Ile1698Arg
XM_011521279.1:c.5093T>G (STRC) XP_011519581.1:p.Ile1698Arg