Canonical Allele Identifier: CA392162617

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600891T>A , CM000677.2:g.43600891T>A GRCh38
NC_000015.9:g.43893089T>A , CM000677.1:g.43893089T>A GRCh37
NC_000015.8:g.41680381T>A NCBI36
NG_011636.1:g.22910A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000450892.7:c.4825A>T (STRC) MANE Select ENSP00000401513.2:p.Ile1609Phe
ENST00000411560.1:n.142+1358T>A (CKMT1B)
ENST00000428650.5:c.*1858A>T (STRC) ENSP00000415991.1:n.*1858A>T
ENST00000440125.5:c.*2617A>T (STRC) ENSP00000394866.1:n.*2617A>T
ENST00000448437.6:n.1945A>T (STRC)
ENST00000450892.6:c.4825A>T (STRC) ENSP00000401513.2:p.Ile1609Phe
ENST00000460952.1:n.404A>T (STRC)
ENST00000471703.5:n.2779A>T (STRC)
ENST00000485556.5:n.3680A>T (STRC)
ENST00000541030.5:c.2506A>T (STRC) ENSP00000440413.1:p.Ile836Phe
NM_153700.2:c.4825A>T (STRC) MANE Select NP_714544.1:p.Ile1609Phe
XM_011521277.1:c.5314A>T (STRC) XP_011519579.1:p.Ile1772Phe
XM_011521278.1:c.4930A>T (STRC) XP_011519580.1:p.Ile1644Phe
XM_011521279.1:c.4930A>T (STRC) XP_011519581.1:p.Ile1644Phe