Canonical Allele Identifier: CA2173248572

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601495G= , CM000677.2:g.43601495G= GRCh38
NC_000015.9:g.43893693G= , CM000677.1:g.43893693G= GRCh37
NC_000015.8:g.41680985G= NCBI36
NG_011636.1:g.22306C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4602C= (STRC) MANE Select ENSP00000401513.2:p.Leu1534=
ENST00000411560.1:n.142+1962G= (CKMT1B)
ENST00000428650.5:c.*1635C= (STRC) ENSP00000415991.1:n.*1635C=
ENST00000440125.5:c.*2394C= (STRC) ENSP00000394866.1:n.*2394C=
ENST00000448437.6:n.1722C= (STRC)
ENST00000450892.6:c.4602C= (STRC) ENSP00000401513.2:p.Leu1534=
ENST00000460952.1:n.181C= (STRC)
ENST00000471703.5:n.2556C= (STRC)
ENST00000485556.5:n.3457C= (STRC)
ENST00000493750.1:n.398C= (STRC)
ENST00000541030.5:c.2283C= (STRC) ENSP00000440413.1:p.Leu761=
NM_153700.2:c.4602C= (STRC) MANE Select NP_714544.1:p.Leu1534=
XM_011521277.1:c.5091C= (STRC) XP_011519579.1:p.Leu1697=
XM_011521278.1:c.4707C= (STRC) XP_011519580.1:p.Leu1569=
XM_011521279.1:c.4707C= (STRC) XP_011519581.1:p.Leu1569=