Canonical Allele Identifier: CA392164073

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601524G>T , CM000677.2:g.43601524G>T GRCh38
NC_000015.9:g.43893722G>T , CM000677.1:g.43893722G>T GRCh37
NC_000015.8:g.41681014G>T NCBI36
NG_011636.1:g.22277C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4573C>A (STRC) MANE Select ENSP00000401513.2:p.Pro1525Thr
ENST00000411560.1:n.142+1991G>T (CKMT1B)
ENST00000428650.5:c.*1606C>A (STRC) ENSP00000415991.1:n.*1606C>A
ENST00000440125.5:c.*2365C>A (STRC) ENSP00000394866.1:n.*2365C>A
ENST00000448437.6:n.1693C>A (STRC)
ENST00000450892.6:c.4573C>A (STRC) ENSP00000401513.2:p.Pro1525Thr
ENST00000460952.1:n.152C>A (STRC)
ENST00000471703.5:n.2527C>A (STRC)
ENST00000485556.5:n.3428C>A (STRC)
ENST00000493750.1:n.369C>A (STRC)
ENST00000541030.5:c.2254C>A (STRC) ENSP00000440413.1:p.Pro752Thr
NM_153700.2:c.4573C>A (STRC) MANE Select NP_714544.1:p.Pro1525Thr
XM_011521277.1:c.5062C>A (STRC) XP_011519579.1:p.Pro1688Thr
XM_011521278.1:c.4678C>A (STRC) XP_011519580.1:p.Pro1560Thr
XM_011521279.1:c.4678C>A (STRC) XP_011519581.1:p.Pro1560Thr