Canonical Allele Identifier: CA392160802

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600641G>T , CM000677.2:g.43600641G>T GRCh38
NC_000015.9:g.43892839G>T , CM000677.1:g.43892839G>T GRCh37
NC_000015.8:g.41680131G>T NCBI36
NG_011636.1:g.23160C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4886C>A (STRC) MANE Select ENSP00000401513.2:p.Ser1629Tyr
ENST00000411560.1:n.142+1108G>T (CKMT1B)
ENST00000428650.5:c.*1919C>A (STRC) ENSP00000415991.1:n.*1919C>A
ENST00000440125.5:c.*2678C>A (STRC) ENSP00000394866.1:n.*2678C>A
ENST00000448437.6:n.2006C>A (STRC)
ENST00000450892.6:c.4886C>A (STRC) ENSP00000401513.2:p.Ser1629Tyr
ENST00000460952.1:n.465C>A (STRC)
ENST00000471703.5:n.2840C>A (STRC)
ENST00000485556.5:n.3741C>A (STRC)
ENST00000541030.5:c.2567C>A (STRC) ENSP00000440413.1:p.Ser856Tyr
NM_153700.2:c.4886C>A (STRC) MANE Select NP_714544.1:p.Ser1629Tyr
XM_011521277.1:c.5375C>A (STRC) XP_011519579.1:p.Ser1792Tyr
XM_011521278.1:c.4991C>A (STRC) XP_011519580.1:p.Ser1664Tyr
XM_011521279.1:c.4991C>A (STRC) XP_011519581.1:p.Ser1664Tyr