Canonical Allele Identifier: CA392163506

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601419T>A , CM000677.2:g.43601419T>A GRCh38
NC_000015.9:g.43893617T>A , CM000677.1:g.43893617T>A GRCh37
NC_000015.8:g.41680909T>A NCBI36
NG_011636.1:g.22382A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4678A>T (STRC) MANE Select ENSP00000401513.2:p.Ile1560Leu
ENST00000411560.1:n.142+1886T>A (CKMT1B)
ENST00000428650.5:c.*1711A>T (STRC) ENSP00000415991.1:n.*1711A>T
ENST00000440125.5:c.*2470A>T (STRC) ENSP00000394866.1:n.*2470A>T
ENST00000448437.6:n.1798A>T (STRC)
ENST00000450892.6:c.4678A>T (STRC) ENSP00000401513.2:p.Ile1560Leu
ENST00000460952.1:n.257A>T (STRC)
ENST00000471703.5:n.2632A>T (STRC)
ENST00000485556.5:n.3533A>T (STRC)
ENST00000493750.1:n.474A>T (STRC)
ENST00000541030.5:c.2359A>T (STRC) ENSP00000440413.1:p.Ile787Leu
NM_153700.2:c.4678A>T (STRC) MANE Select NP_714544.1:p.Ile1560Leu
XM_011521277.1:c.5167A>T (STRC) XP_011519579.1:p.Ile1723Leu
XM_011521278.1:c.4783A>T (STRC) XP_011519580.1:p.Ile1595Leu
XM_011521279.1:c.4783A>T (STRC) XP_011519581.1:p.Ile1595Leu