Canonical Allele Identifier: CA2173248070

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600561T= , CM000677.2:g.43600561T= GRCh38
NC_000015.9:g.43892759T= , CM000677.1:g.43892759T= GRCh37
NC_000015.8:g.41680051T= NCBI36
NG_011636.1:g.23240A=

Transcript Alleles

HGVS Amino-acid change
ENST00000450892.7:c.4966A= (STRC) MANE Select ENSP00000401513.2:p.Ile1656=
ENST00000411560.1:n.142+1028T= (CKMT1B)
ENST00000428650.5:c.*1999A= (STRC) ENSP00000415991.1:n.*1999A=
ENST00000440125.5:c.*2758A= (STRC) ENSP00000394866.1:n.*2758A=
ENST00000448437.6:n.2086A= (STRC)
ENST00000450892.6:c.4966A= (STRC) ENSP00000401513.2:p.Ile1656=
ENST00000471703.5:n.2920A= (STRC)
ENST00000485556.5:n.3821A= (STRC)
ENST00000541030.5:c.2647A= (STRC) ENSP00000440413.1:p.Ile883=
NM_153700.2:c.4966A= (STRC) MANE Select NP_714544.1:p.Ile1656=
XM_011521277.1:c.5455A= (STRC) XP_011519579.1:p.Ile1819=
XM_011521278.1:c.5071A= (STRC) XP_011519580.1:p.Ile1691=
XM_011521279.1:c.5071A= (STRC) XP_011519581.1:p.Ile1691=