Canonical Allele Identifier: CA392164199

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601550A>C , CM000677.2:g.43601550A>C GRCh38
NC_000015.9:g.43893748A>C , CM000677.1:g.43893748A>C GRCh37
NC_000015.8:g.41681040A>C NCBI36
NG_011636.1:g.22251T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4547T>G (STRC) MANE Select ENSP00000401513.2:p.Leu1516Trp
ENST00000411560.1:n.142+2017A>C (CKMT1B)
ENST00000428650.5:c.*1580T>G (STRC) ENSP00000415991.1:n.*1580T>G
ENST00000440125.5:c.*2339T>G (STRC) ENSP00000394866.1:n.*2339T>G
ENST00000448437.6:n.1667T>G (STRC)
ENST00000450892.6:c.4547T>G (STRC) ENSP00000401513.2:p.Leu1516Trp
ENST00000460952.1:n.126T>G (STRC)
ENST00000471703.5:n.2501T>G (STRC)
ENST00000485556.5:n.3402T>G (STRC)
ENST00000493750.1:n.343T>G (STRC)
ENST00000541030.5:c.2228T>G (STRC) ENSP00000440413.1:p.Leu743Trp
NM_153700.2:c.4547T>G (STRC) MANE Select NP_714544.1:p.Leu1516Trp
XM_011521277.1:c.5036T>G (STRC) XP_011519579.1:p.Leu1679Trp
XM_011521278.1:c.4652T>G (STRC) XP_011519580.1:p.Leu1551Trp
XM_011521279.1:c.4652T>G (STRC) XP_011519581.1:p.Leu1551Trp