Canonical Allele Identifier: CA392159800

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600538T>C , CM000677.2:g.43600538T>C GRCh38
NC_000015.9:g.43892736T>C , CM000677.1:g.43892736T>C GRCh37
NC_000015.8:g.41680028T>C NCBI36
NG_011636.1:g.23263A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4989A>G (STRC) MANE Select ENSP00000401513.2:p.Ile1663Met
ENST00000411560.1:n.142+1005T>C (CKMT1B)
ENST00000428650.5:c.*2022A>G (STRC) ENSP00000415991.1:n.*2022A>G
ENST00000440125.5:c.*2781A>G (STRC) ENSP00000394866.1:n.*2781A>G
ENST00000448437.6:n.2109A>G (STRC)
ENST00000450892.6:c.4989A>G (STRC) ENSP00000401513.2:p.Ile1663Met
ENST00000471703.5:n.2943A>G (STRC)
ENST00000485556.5:n.3844A>G (STRC)
ENST00000541030.5:c.2670A>G (STRC) ENSP00000440413.1:p.Ile890Met
NM_153700.2:c.4989A>G (STRC) MANE Select NP_714544.1:p.Ile1663Met
XM_011521277.1:c.5478A>G (STRC) XP_011519579.1:p.Ile1826Met
XM_011521278.1:c.5094A>G (STRC) XP_011519580.1:p.Ile1698Met
XM_011521279.1:c.5094A>G (STRC) XP_011519581.1:p.Ile1698Met