Canonical Allele Identifier: CA392163494

Linked Data

dbSNP Id: rs1412775752

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601418A>G , CM000677.2:g.43601418A>G GRCh38
NC_000015.9:g.43893616A>G , CM000677.1:g.43893616A>G GRCh37
NC_000015.8:g.41680908A>G NCBI36
NG_011636.1:g.22383T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4679T>C (STRC) MANE Select ENSP00000401513.2:p.Ile1560Thr
ENST00000411560.1:n.142+1885A>G (CKMT1B)
ENST00000428650.5:c.*1712T>C (STRC) ENSP00000415991.1:n.*1712T>C
ENST00000440125.5:c.*2471T>C (STRC) ENSP00000394866.1:n.*2471T>C
ENST00000448437.6:n.1799T>C (STRC)
ENST00000450892.6:c.4679T>C (STRC) ENSP00000401513.2:p.Ile1560Thr
ENST00000460952.1:n.258T>C (STRC)
ENST00000471703.5:n.2633T>C (STRC)
ENST00000485556.5:n.3534T>C (STRC)
ENST00000493750.1:n.475T>C (STRC)
ENST00000541030.5:c.2360T>C (STRC) ENSP00000440413.1:p.Ile787Thr
NM_153700.2:c.4679T>C (STRC) MANE Select NP_714544.1:p.Ile1560Thr
XM_011521277.1:c.5168T>C (STRC) XP_011519579.1:p.Ile1723Thr
XM_011521278.1:c.4784T>C (STRC) XP_011519580.1:p.Ile1595Thr
XM_011521279.1:c.4784T>C (STRC) XP_011519581.1:p.Ile1595Thr