Canonical Allele Identifier: CA392157506

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599703A>C , CM000677.2:g.43599703A>C GRCh38
NC_000015.9:g.43891901A>C , CM000677.1:g.43891901A>C GRCh37
NC_000015.8:g.41679193A>C NCBI36
NG_011636.1:g.24098T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5297T>G (STRC) MANE Select ENSP00000401513.2:p.Leu1766Trp
ENST00000411560.1:n.142+170A>C (CKMT1B)
ENST00000428650.5:c.*2330T>G (STRC) ENSP00000415991.1:n.*2330T>G
ENST00000440125.5:c.*3089T>G (STRC) ENSP00000394866.1:n.*3089T>G
ENST00000448437.6:n.2417T>G (STRC)
ENST00000450892.6:c.5297T>G (STRC) ENSP00000401513.2:p.Leu1766Trp
ENST00000471703.5:n.3251T>G (STRC)
ENST00000485556.5:n.4152T>G (STRC)
ENST00000541030.5:c.2978T>G (STRC) ENSP00000440413.1:p.Leu993Trp
NM_153700.2:c.5297T>G (STRC) MANE Select NP_714544.1:p.Leu1766Trp
XM_011521277.1:c.5786T>G (STRC) XP_011519579.1:p.Leu1929Trp
XM_011521278.1:c.5402T>G (STRC) XP_011519580.1:p.Leu1801Trp
XM_011521279.1:c.5402T>G (STRC) XP_011519581.1:p.Leu1801Trp