Canonical Allele Identifier: CA392157646

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599729C>T , CM000677.2:g.43599729C>T GRCh38
NC_000015.9:g.43891927C>T , CM000677.1:g.43891927C>T GRCh37
NC_000015.8:g.41679219C>T NCBI36
NG_011636.1:g.24072G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5271G>A (STRC) MANE Select ENSP00000401513.2:p.Trp1757Ter
ENST00000411560.1:n.142+196C>T (CKMT1B)
ENST00000428650.5:c.*2304G>A (STRC) ENSP00000415991.1:n.*2304G>A
ENST00000440125.5:c.*3063G>A (STRC) ENSP00000394866.1:n.*3063G>A
ENST00000448437.6:n.2391G>A (STRC)
ENST00000450892.6:c.5271G>A (STRC) ENSP00000401513.2:p.Trp1757Ter
ENST00000471703.5:n.3225G>A (STRC)
ENST00000485556.5:n.4126G>A (STRC)
ENST00000541030.5:c.2952G>A (STRC) ENSP00000440413.1:p.Trp984Ter
NM_153700.2:c.5271G>A (STRC) MANE Select NP_714544.1:p.Trp1757Ter
XM_011521277.1:c.5760G>A (STRC) XP_011519579.1:p.Trp1920Ter
XM_011521278.1:c.5376G>A (STRC) XP_011519580.1:p.Trp1792Ter
XM_011521279.1:c.5376G>A (STRC) XP_011519581.1:p.Trp1792Ter