Canonical Allele Identifier: CA2173247771

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599730C= , CM000677.2:g.43599730C= GRCh38
NC_000015.9:g.43891928C= , CM000677.1:g.43891928C= GRCh37
NC_000015.8:g.41679220C= NCBI36
NG_011636.1:g.24071G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5270G= (STRC) MANE Select ENSP00000401513.2:p.Trp1757=
ENST00000411560.1:n.142+197C= (CKMT1B)
ENST00000428650.5:c.*2303G= (STRC) ENSP00000415991.1:n.*2303G=
ENST00000440125.5:c.*3062G= (STRC) ENSP00000394866.1:n.*3062G=
ENST00000448437.6:n.2390G= (STRC)
ENST00000450892.6:c.5270G= (STRC) ENSP00000401513.2:p.Trp1757=
ENST00000471703.5:n.3224G= (STRC)
ENST00000485556.5:n.4125G= (STRC)
ENST00000541030.5:c.2951G= (STRC) ENSP00000440413.1:p.Trp984=
NM_153700.2:c.5270G= (STRC) MANE Select NP_714544.1:p.Trp1757=
XM_011521277.1:c.5759G= (STRC) XP_011519579.1:p.Trp1920=
XM_011521278.1:c.5375G= (STRC) XP_011519580.1:p.Trp1792=
XM_011521279.1:c.5375G= (STRC) XP_011519581.1:p.Trp1792=