Canonical Allele Identifier: CA392164081

Linked Data

dbSNP Id: rs147990592

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601527G>A , CM000677.2:g.43601527G>A GRCh38
NC_000015.9:g.43893725G>A , CM000677.1:g.43893725G>A GRCh37
NC_000015.8:g.41681017G>A NCBI36
NG_011636.1:g.22274C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4570C>T (STRC) MANE Select ENSP00000401513.2:p.Arg1524Cys
ENST00000411560.1:n.142+1994G>A (CKMT1B)
ENST00000428650.5:c.*1603C>T (STRC) ENSP00000415991.1:n.*1603C>T
ENST00000440125.5:c.*2362C>T (STRC) ENSP00000394866.1:n.*2362C>T
ENST00000448437.6:n.1690C>T (STRC)
ENST00000450892.6:c.4570C>T (STRC) ENSP00000401513.2:p.Arg1524Cys
ENST00000460952.1:n.149C>T (STRC)
ENST00000471703.5:n.2524C>T (STRC)
ENST00000485556.5:n.3425C>T (STRC)
ENST00000493750.1:n.366C>T (STRC)
ENST00000541030.5:c.2251C>T (STRC) ENSP00000440413.1:p.Arg751Cys
NM_153700.2:c.4570C>T (STRC) MANE Select NP_714544.1:p.Arg1524Cys
XM_011521277.1:c.5059C>T (STRC) XP_011519579.1:p.Arg1687Cys
XM_011521278.1:c.4675C>T (STRC) XP_011519580.1:p.Arg1559Cys
XM_011521279.1:c.4675C>T (STRC) XP_011519581.1:p.Arg1559Cys