Canonical Allele Identifier: CA392164031

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601517T>A , CM000677.2:g.43601517T>A GRCh38
NC_000015.9:g.43893715T>A , CM000677.1:g.43893715T>A GRCh37
NC_000015.8:g.41681007T>A NCBI36
NG_011636.1:g.22284A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4580A>T (STRC) MANE Select ENSP00000401513.2:p.Gln1527Leu
ENST00000411560.1:n.142+1984T>A (CKMT1B)
ENST00000428650.5:c.*1613A>T (STRC) ENSP00000415991.1:n.*1613A>T
ENST00000440125.5:c.*2372A>T (STRC) ENSP00000394866.1:n.*2372A>T
ENST00000448437.6:n.1700A>T (STRC)
ENST00000450892.6:c.4580A>T (STRC) ENSP00000401513.2:p.Gln1527Leu
ENST00000460952.1:n.159A>T (STRC)
ENST00000471703.5:n.2534A>T (STRC)
ENST00000485556.5:n.3435A>T (STRC)
ENST00000493750.1:n.376A>T (STRC)
ENST00000541030.5:c.2261A>T (STRC) ENSP00000440413.1:p.Gln754Leu
NM_153700.2:c.4580A>T (STRC) MANE Select NP_714544.1:p.Gln1527Leu
XM_011521277.1:c.5069A>T (STRC) XP_011519579.1:p.Gln1690Leu
XM_011521278.1:c.4685A>T (STRC) XP_011519580.1:p.Gln1562Leu
XM_011521279.1:c.4685A>T (STRC) XP_011519581.1:p.Gln1562Leu