Canonical Allele Identifier: CA392157377

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599680G>C , CM000677.2:g.43599680G>C GRCh38
NC_000015.9:g.43891878G>C , CM000677.1:g.43891878G>C GRCh37
NC_000015.8:g.41679170G>C NCBI36
NG_011636.1:g.24121C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5320C>G (STRC) MANE Select ENSP00000401513.2:p.Leu1774Val
ENST00000411560.1:n.142+147G>C (CKMT1B)
ENST00000428650.5:c.*2353C>G (STRC) ENSP00000415991.1:n.*2353C>G
ENST00000440125.5:c.*3112C>G (STRC) ENSP00000394866.1:n.*3112C>G
ENST00000448437.6:n.2440C>G (STRC)
ENST00000450892.6:c.5320C>G (STRC) ENSP00000401513.2:p.Leu1774Val
ENST00000471703.5:n.3274C>G (STRC)
ENST00000485556.5:n.4175C>G (STRC)
ENST00000541030.5:c.3001C>G (STRC) ENSP00000440413.1:p.Leu1001Val
NM_153700.2:c.5320C>G (STRC) MANE Select NP_714544.1:p.Leu1774Val
XM_011521277.1:c.5809C>G (STRC) XP_011519579.1:p.Leu1937Val
XM_011521278.1:c.5425C>G (STRC) XP_011519580.1:p.Leu1809Val
XM_011521279.1:c.5425C>G (STRC) XP_011519581.1:p.Leu1809Val