Canonical Allele Identifier: CA392167960

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43604392A>T , CM000677.2:g.43604392A>T GRCh38
NC_000015.9:g.43896590A>T , CM000677.1:g.43896590A>T GRCh37
NC_000015.8:g.41683882A>T NCBI36
NG_011636.1:g.19409T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4187T>A (STRC) MANE Select ENSP00000401513.2:p.Leu1396Gln
ENST00000411560.1:n.143-392A>T (CKMT1B)
ENST00000428650.5:c.*1390T>A (STRC) ENSP00000415991.1:n.*1390T>A
ENST00000440125.5:c.*1979T>A (STRC) ENSP00000394866.1:n.*1979T>A
ENST00000448437.6:n.1666-2841T>A (STRC)
ENST00000450892.6:c.4187T>A (STRC) ENSP00000401513.2:p.Leu1396Gln
ENST00000471703.5:n.2141T>A (STRC)
ENST00000485556.5:n.3042T>A (STRC)
ENST00000541030.5:c.1868T>A (STRC) ENSP00000440413.1:p.Leu623Gln
NM_153700.2:c.4187T>A (STRC) MANE Select NP_714544.1:p.Leu1396Gln
XM_011521277.1:c.4676T>A (STRC) XP_011519579.1:p.Leu1559Gln
XM_011521278.1:c.4292T>A (STRC) XP_011519580.1:p.Leu1431Gln
XM_011521279.1:c.4292T>A (STRC) XP_011519581.1:p.Leu1431Gln