Canonical Allele Identifier: CA392167816

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43604365G>A , CM000677.2:g.43604365G>A GRCh38
NC_000015.9:g.43896563G>A , CM000677.1:g.43896563G>A GRCh37
NC_000015.8:g.41683855G>A NCBI36
NG_011636.1:g.19436C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4214C>T (STRC) MANE Select ENSP00000401513.2:p.Pro1405Leu
ENST00000411560.1:n.143-419G>A (CKMT1B)
ENST00000428650.5:c.*1417C>T (STRC) ENSP00000415991.1:n.*1417C>T
ENST00000440125.5:c.*2006C>T (STRC) ENSP00000394866.1:n.*2006C>T
ENST00000448437.6:n.1666-2814C>T (STRC)
ENST00000450892.6:c.4214C>T (STRC) ENSP00000401513.2:p.Pro1405Leu
ENST00000471703.5:n.2168C>T (STRC)
ENST00000485556.5:n.3069C>T (STRC)
ENST00000541030.5:c.1895C>T (STRC) ENSP00000440413.1:p.Pro632Leu
NM_153700.2:c.4214C>T (STRC) MANE Select NP_714544.1:p.Pro1405Leu
XM_011521277.1:c.4703C>T (STRC) XP_011519579.1:p.Pro1568Leu
XM_011521278.1:c.4319C>T (STRC) XP_011519580.1:p.Pro1440Leu
XM_011521279.1:c.4319C>T (STRC) XP_011519581.1:p.Pro1440Leu