Canonical Allele Identifier: CA392164044

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601519C>A , CM000677.2:g.43601519C>A GRCh38
NC_000015.9:g.43893717C>A , CM000677.1:g.43893717C>A GRCh37
NC_000015.8:g.41681009C>A NCBI36
NG_011636.1:g.22282G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4578G>T (STRC) MANE Select ENSP00000401513.2:p.Glu1526Asp
ENST00000411560.1:n.142+1986C>A (CKMT1B)
ENST00000428650.5:c.*1611G>T (STRC) ENSP00000415991.1:n.*1611G>T
ENST00000440125.5:c.*2370G>T (STRC) ENSP00000394866.1:n.*2370G>T
ENST00000448437.6:n.1698G>T (STRC)
ENST00000450892.6:c.4578G>T (STRC) ENSP00000401513.2:p.Glu1526Asp
ENST00000460952.1:n.157G>T (STRC)
ENST00000471703.5:n.2532G>T (STRC)
ENST00000485556.5:n.3433G>T (STRC)
ENST00000493750.1:n.374G>T (STRC)
ENST00000541030.5:c.2259G>T (STRC) ENSP00000440413.1:p.Glu753Asp
NM_153700.2:c.4578G>T (STRC) MANE Select NP_714544.1:p.Glu1526Asp
XM_011521277.1:c.5067G>T (STRC) XP_011519579.1:p.Glu1689Asp
XM_011521278.1:c.4683G>T (STRC) XP_011519580.1:p.Glu1561Asp
XM_011521279.1:c.4683G>T (STRC) XP_011519581.1:p.Glu1561Asp