Canonical Allele Identifier: CA392163693

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601454A>C , CM000677.2:g.43601454A>C GRCh38
NC_000015.9:g.43893652A>C , CM000677.1:g.43893652A>C GRCh37
NC_000015.8:g.41680944A>C NCBI36
NG_011636.1:g.22347T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4643T>G (STRC) MANE Select ENSP00000401513.2:p.Leu1548Arg
ENST00000411560.1:n.142+1921A>C (CKMT1B)
ENST00000428650.5:c.*1676T>G (STRC) ENSP00000415991.1:n.*1676T>G
ENST00000440125.5:c.*2435T>G (STRC) ENSP00000394866.1:n.*2435T>G
ENST00000448437.6:n.1763T>G (STRC)
ENST00000450892.6:c.4643T>G (STRC) ENSP00000401513.2:p.Leu1548Arg
ENST00000460952.1:n.222T>G (STRC)
ENST00000471703.5:n.2597T>G (STRC)
ENST00000485556.5:n.3498T>G (STRC)
ENST00000493750.1:n.439T>G (STRC)
ENST00000541030.5:c.2324T>G (STRC) ENSP00000440413.1:p.Leu775Arg
NM_153700.2:c.4643T>G (STRC) MANE Select NP_714544.1:p.Leu1548Arg
XM_011521277.1:c.5132T>G (STRC) XP_011519579.1:p.Leu1711Arg
XM_011521278.1:c.4748T>G (STRC) XP_011519580.1:p.Leu1583Arg
XM_011521279.1:c.4748T>G (STRC) XP_011519581.1:p.Leu1583Arg