Canonical Allele Identifier: CA392164192

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601548A>G , CM000677.2:g.43601548A>G GRCh38
NC_000015.9:g.43893746A>G , CM000677.1:g.43893746A>G GRCh37
NC_000015.8:g.41681038A>G NCBI36
NG_011636.1:g.22253T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4549T>C (STRC) MANE Select ENSP00000401513.2:p.Trp1517Arg
ENST00000411560.1:n.142+2015A>G (CKMT1B)
ENST00000428650.5:c.*1582T>C (STRC) ENSP00000415991.1:n.*1582T>C
ENST00000440125.5:c.*2341T>C (STRC) ENSP00000394866.1:n.*2341T>C
ENST00000448437.6:n.1669T>C (STRC)
ENST00000450892.6:c.4549T>C (STRC) ENSP00000401513.2:p.Trp1517Arg
ENST00000460952.1:n.128T>C (STRC)
ENST00000471703.5:n.2503T>C (STRC)
ENST00000485556.5:n.3404T>C (STRC)
ENST00000493750.1:n.345T>C (STRC)
ENST00000541030.5:c.2230T>C (STRC) ENSP00000440413.1:p.Trp744Arg
NM_153700.2:c.4549T>C (STRC) MANE Select NP_714544.1:p.Trp1517Arg
XM_011521277.1:c.5038T>C (STRC) XP_011519579.1:p.Trp1680Arg
XM_011521278.1:c.4654T>C (STRC) XP_011519580.1:p.Trp1552Arg
XM_011521279.1:c.4654T>C (STRC) XP_011519581.1:p.Trp1552Arg