Canonical Allele Identifier: CA392163965

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601502C>T , CM000677.2:g.43601502C>T GRCh38
NC_000015.9:g.43893700C>T , CM000677.1:g.43893700C>T GRCh37
NC_000015.8:g.41680992C>T NCBI36
NG_011636.1:g.22299G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4595G>A (STRC) MANE Select ENSP00000401513.2:p.Gly1532Asp
ENST00000411560.1:n.142+1969C>T (CKMT1B)
ENST00000428650.5:c.*1628G>A (STRC) ENSP00000415991.1:n.*1628G>A
ENST00000440125.5:c.*2387G>A (STRC) ENSP00000394866.1:n.*2387G>A
ENST00000448437.6:n.1715G>A (STRC)
ENST00000450892.6:c.4595G>A (STRC) ENSP00000401513.2:p.Gly1532Asp
ENST00000460952.1:n.174G>A (STRC)
ENST00000471703.5:n.2549G>A (STRC)
ENST00000485556.5:n.3450G>A (STRC)
ENST00000493750.1:n.391G>A (STRC)
ENST00000541030.5:c.2276G>A (STRC) ENSP00000440413.1:p.Gly759Asp
NM_153700.2:c.4595G>A (STRC) MANE Select NP_714544.1:p.Gly1532Asp
XM_011521277.1:c.5084G>A (STRC) XP_011519579.1:p.Gly1695Asp
XM_011521278.1:c.4700G>A (STRC) XP_011519580.1:p.Gly1567Asp
XM_011521279.1:c.4700G>A (STRC) XP_011519581.1:p.Gly1567Asp