Canonical Allele Identifier: CA392157425

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599690G>C , CM000677.2:g.43599690G>C GRCh38
NC_000015.9:g.43891888G>C , CM000677.1:g.43891888G>C GRCh37
NC_000015.8:g.41679180G>C NCBI36
NG_011636.1:g.24111C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5310C>G (STRC) MANE Select ENSP00000401513.2:p.Phe1770Leu
ENST00000411560.1:n.142+157G>C (CKMT1B)
ENST00000428650.5:c.*2343C>G (STRC) ENSP00000415991.1:n.*2343C>G
ENST00000440125.5:c.*3102C>G (STRC) ENSP00000394866.1:n.*3102C>G
ENST00000448437.6:n.2430C>G (STRC)
ENST00000450892.6:c.5310C>G (STRC) ENSP00000401513.2:p.Phe1770Leu
ENST00000471703.5:n.3264C>G (STRC)
ENST00000485556.5:n.4165C>G (STRC)
ENST00000541030.5:c.2991C>G (STRC) ENSP00000440413.1:p.Phe997Leu
NM_153700.2:c.5310C>G (STRC) MANE Select NP_714544.1:p.Phe1770Leu
XM_011521277.1:c.5799C>G (STRC) XP_011519579.1:p.Phe1933Leu
XM_011521278.1:c.5415C>G (STRC) XP_011519580.1:p.Phe1805Leu
XM_011521279.1:c.5415C>G (STRC) XP_011519581.1:p.Phe1805Leu