Canonical Allele Identifier: CA392162591

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600887C>G , CM000677.2:g.43600887C>G GRCh38
NC_000015.9:g.43893085C>G , CM000677.1:g.43893085C>G GRCh37
NC_000015.8:g.41680377C>G NCBI36
NG_011636.1:g.22914G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000450892.7:c.4829G>C (STRC) MANE Select ENSP00000401513.2:p.Ser1610Thr
ENST00000411560.1:n.142+1354C>G (CKMT1B)
ENST00000428650.5:c.*1862G>C (STRC) ENSP00000415991.1:n.*1862G>C
ENST00000440125.5:c.*2621G>C (STRC) ENSP00000394866.1:n.*2621G>C
ENST00000448437.6:n.1949G>C (STRC)
ENST00000450892.6:c.4829G>C (STRC) ENSP00000401513.2:p.Ser1610Thr
ENST00000460952.1:n.408G>C (STRC)
ENST00000471703.5:n.2783G>C (STRC)
ENST00000485556.5:n.3684G>C (STRC)
ENST00000541030.5:c.2510G>C (STRC) ENSP00000440413.1:p.Ser837Thr
NM_153700.2:c.4829G>C (STRC) MANE Select NP_714544.1:p.Ser1610Thr
XM_011521277.1:c.5318G>C (STRC) XP_011519579.1:p.Ser1773Thr
XM_011521278.1:c.4934G>C (STRC) XP_011519580.1:p.Ser1645Thr
XM_011521279.1:c.4934G>C (STRC) XP_011519581.1:p.Ser1645Thr