Canonical Allele Identifier: CA392163448

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601410A>C , CM000677.2:g.43601410A>C GRCh38
NC_000015.9:g.43893608A>C , CM000677.1:g.43893608A>C GRCh37
NC_000015.8:g.41680900A>C NCBI36
NG_011636.1:g.22391T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4687T>G (STRC) MANE Select ENSP00000401513.2:p.Trp1563Gly
ENST00000411560.1:n.142+1877A>C (CKMT1B)
ENST00000428650.5:c.*1720T>G (STRC) ENSP00000415991.1:n.*1720T>G
ENST00000440125.5:c.*2479T>G (STRC) ENSP00000394866.1:n.*2479T>G
ENST00000448437.6:n.1807T>G (STRC)
ENST00000450892.6:c.4687T>G (STRC) ENSP00000401513.2:p.Trp1563Gly
ENST00000460952.1:n.266T>G (STRC)
ENST00000471703.5:n.2641T>G (STRC)
ENST00000485556.5:n.3542T>G (STRC)
ENST00000493750.1:n.483T>G (STRC)
ENST00000541030.5:c.2368T>G (STRC) ENSP00000440413.1:p.Trp790Gly
NM_153700.2:c.4687T>G (STRC) MANE Select NP_714544.1:p.Trp1563Gly
XM_011521277.1:c.5176T>G (STRC) XP_011519579.1:p.Trp1726Gly
XM_011521278.1:c.4792T>G (STRC) XP_011519580.1:p.Trp1598Gly
XM_011521279.1:c.4792T>G (STRC) XP_011519581.1:p.Trp1598Gly