Canonical Allele Identifier: CA392159881

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600549T>A , CM000677.2:g.43600549T>A GRCh38
NC_000015.9:g.43892747T>A , CM000677.1:g.43892747T>A GRCh37
NC_000015.8:g.41680039T>A NCBI36
NG_011636.1:g.23252A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4978A>T (STRC) MANE Select ENSP00000401513.2:p.Ile1660Phe
ENST00000411560.1:n.142+1016T>A (CKMT1B)
ENST00000428650.5:c.*2011A>T (STRC) ENSP00000415991.1:n.*2011A>T
ENST00000440125.5:c.*2770A>T (STRC) ENSP00000394866.1:n.*2770A>T
ENST00000448437.6:n.2098A>T (STRC)
ENST00000450892.6:c.4978A>T (STRC) ENSP00000401513.2:p.Ile1660Phe
ENST00000471703.5:n.2932A>T (STRC)
ENST00000485556.5:n.3833A>T (STRC)
ENST00000541030.5:c.2659A>T (STRC) ENSP00000440413.1:p.Ile887Phe
NM_153700.2:c.4978A>T (STRC) MANE Select NP_714544.1:p.Ile1660Phe
XM_011521277.1:c.5467A>T (STRC) XP_011519579.1:p.Ile1823Phe
XM_011521278.1:c.5083A>T (STRC) XP_011519580.1:p.Ile1695Phe
XM_011521279.1:c.5083A>T (STRC) XP_011519581.1:p.Ile1695Phe