Canonical Allele Identifier: CA392157353

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599673C>G , CM000677.2:g.43599673C>G GRCh38
NC_000015.9:g.43891871C>G , CM000677.1:g.43891871C>G GRCh37
NC_000015.8:g.41679163C>G NCBI36
NG_011636.1:g.24128G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5327G>C (STRC) MANE Select ENSP00000401513.2:p.Ter1776Ser
ENST00000411560.1:n.142+140C>G (CKMT1B)
ENST00000428650.5:c.*2360G>C (STRC) ENSP00000415991.1:n.*2360G>C
ENST00000440125.5:c.*3119G>C (STRC) ENSP00000394866.1:n.*3119G>C
ENST00000448437.6:n.2447G>C (STRC)
ENST00000450892.6:c.5327G>C (STRC) ENSP00000401513.2:p.Ter1776Ser
ENST00000471703.5:n.3281G>C (STRC)
ENST00000485556.5:n.4182G>C (STRC)
ENST00000541030.5:c.3008G>C (STRC) ENSP00000440413.1:p.Ter1003Ser
NM_153700.2:c.5327G>C (STRC) MANE Select NP_714544.1:p.Ter1776Ser
XM_011521277.1:c.5816G>C (STRC) XP_011519579.1:p.Ter1939Ser
XM_011521278.1:c.5432G>C (STRC) XP_011519580.1:p.Ter1811Ser
XM_011521279.1:c.5432G>C (STRC) XP_011519581.1:p.Ter1811Ser