Canonical Allele Identifier: CA392159821

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600540T>G , CM000677.2:g.43600540T>G GRCh38
NC_000015.9:g.43892738T>G , CM000677.1:g.43892738T>G GRCh37
NC_000015.8:g.41680030T>G NCBI36
NG_011636.1:g.23261A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4987A>C (STRC) MANE Select ENSP00000401513.2:p.Ile1663Leu
ENST00000411560.1:n.142+1007T>G (CKMT1B)
ENST00000428650.5:c.*2020A>C (STRC) ENSP00000415991.1:n.*2020A>C
ENST00000440125.5:c.*2779A>C (STRC) ENSP00000394866.1:n.*2779A>C
ENST00000448437.6:n.2107A>C (STRC)
ENST00000450892.6:c.4987A>C (STRC) ENSP00000401513.2:p.Ile1663Leu
ENST00000471703.5:n.2941A>C (STRC)
ENST00000485556.5:n.3842A>C (STRC)
ENST00000541030.5:c.2668A>C (STRC) ENSP00000440413.1:p.Ile890Leu
NM_153700.2:c.4987A>C (STRC) MANE Select NP_714544.1:p.Ile1663Leu
XM_011521277.1:c.5476A>C (STRC) XP_011519579.1:p.Ile1826Leu
XM_011521278.1:c.5092A>C (STRC) XP_011519580.1:p.Ile1698Leu
XM_011521279.1:c.5092A>C (STRC) XP_011519581.1:p.Ile1698Leu