Canonical Allele Identifier: CA392164162

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601544C>A , CM000677.2:g.43601544C>A GRCh38
NC_000015.9:g.43893742C>A , CM000677.1:g.43893742C>A GRCh37
NC_000015.8:g.41681034C>A NCBI36
NG_011636.1:g.22257G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4553G>T (STRC) MANE Select ENSP00000401513.2:p.Gly1518Val
ENST00000411560.1:n.142+2011C>A (CKMT1B)
ENST00000428650.5:c.*1586G>T (STRC) ENSP00000415991.1:n.*1586G>T
ENST00000440125.5:c.*2345G>T (STRC) ENSP00000394866.1:n.*2345G>T
ENST00000448437.6:n.1673G>T (STRC)
ENST00000450892.6:c.4553G>T (STRC) ENSP00000401513.2:p.Gly1518Val
ENST00000460952.1:n.132G>T (STRC)
ENST00000471703.5:n.2507G>T (STRC)
ENST00000485556.5:n.3408G>T (STRC)
ENST00000493750.1:n.349G>T (STRC)
ENST00000541030.5:c.2234G>T (STRC) ENSP00000440413.1:p.Gly745Val
NM_153700.2:c.4553G>T (STRC) MANE Select NP_714544.1:p.Gly1518Val
XM_011521277.1:c.5042G>T (STRC) XP_011519579.1:p.Gly1681Val
XM_011521278.1:c.4658G>T (STRC) XP_011519580.1:p.Gly1553Val
XM_011521279.1:c.4658G>T (STRC) XP_011519581.1:p.Gly1553Val