Canonical Allele Identifier: CA2173248069

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600560A= , CM000677.2:g.43600560A= GRCh38
NC_000015.9:g.43892758A= , CM000677.1:g.43892758A= GRCh37
NC_000015.8:g.41680050A= NCBI36
NG_011636.1:g.23241T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4967T= (STRC) MANE Select ENSP00000401513.2:p.Ile1656=
ENST00000411560.1:n.142+1027A= (CKMT1B)
ENST00000428650.5:c.*2000T= (STRC) ENSP00000415991.1:n.*2000T=
ENST00000440125.5:c.*2759T= (STRC) ENSP00000394866.1:n.*2759T=
ENST00000448437.6:n.2087T= (STRC)
ENST00000450892.6:c.4967T= (STRC) ENSP00000401513.2:p.Ile1656=
ENST00000471703.5:n.2921T= (STRC)
ENST00000485556.5:n.3822T= (STRC)
ENST00000541030.5:c.2648T= (STRC) ENSP00000440413.1:p.Ile883=
NM_153700.2:c.4967T= (STRC) MANE Select NP_714544.1:p.Ile1656=
XM_011521277.1:c.5456T= (STRC) XP_011519579.1:p.Ile1819=
XM_011521278.1:c.5072T= (STRC) XP_011519580.1:p.Ile1691=
XM_011521279.1:c.5072T= (STRC) XP_011519581.1:p.Ile1691=