Canonical Allele Identifier: CA392162609

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600890A>G , CM000677.2:g.43600890A>G GRCh38
NC_000015.9:g.43893088A>G , CM000677.1:g.43893088A>G GRCh37
NC_000015.8:g.41680380A>G NCBI36
NG_011636.1:g.22911T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4826T>C (STRC) MANE Select ENSP00000401513.2:p.Ile1609Thr
ENST00000411560.1:n.142+1357A>G (CKMT1B)
ENST00000428650.5:c.*1859T>C (STRC) ENSP00000415991.1:n.*1859T>C
ENST00000440125.5:c.*2618T>C (STRC) ENSP00000394866.1:n.*2618T>C
ENST00000448437.6:n.1946T>C (STRC)
ENST00000450892.6:c.4826T>C (STRC) ENSP00000401513.2:p.Ile1609Thr
ENST00000460952.1:n.405T>C (STRC)
ENST00000471703.5:n.2780T>C (STRC)
ENST00000485556.5:n.3681T>C (STRC)
ENST00000541030.5:c.2507T>C (STRC) ENSP00000440413.1:p.Ile836Thr
NM_153700.2:c.4826T>C (STRC) MANE Select NP_714544.1:p.Ile1609Thr
XM_011521277.1:c.5315T>C (STRC) XP_011519579.1:p.Ile1772Thr
XM_011521278.1:c.4931T>C (STRC) XP_011519580.1:p.Ile1644Thr
XM_011521279.1:c.4931T>C (STRC) XP_011519581.1:p.Ile1644Thr