Canonical Allele Identifier: CA392163606

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601439A>C , CM000677.2:g.43601439A>C GRCh38
NC_000015.9:g.43893637A>C , CM000677.1:g.43893637A>C GRCh37
NC_000015.8:g.41680929A>C NCBI36
NG_011636.1:g.22362T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4658T>G (STRC) MANE Select ENSP00000401513.2:p.Val1553Gly
ENST00000411560.1:n.142+1906A>C (CKMT1B)
ENST00000428650.5:c.*1691T>G (STRC) ENSP00000415991.1:n.*1691T>G
ENST00000440125.5:c.*2450T>G (STRC) ENSP00000394866.1:n.*2450T>G
ENST00000448437.6:n.1778T>G (STRC)
ENST00000450892.6:c.4658T>G (STRC) ENSP00000401513.2:p.Val1553Gly
ENST00000460952.1:n.237T>G (STRC)
ENST00000471703.5:n.2612T>G (STRC)
ENST00000485556.5:n.3513T>G (STRC)
ENST00000493750.1:n.454T>G (STRC)
ENST00000541030.5:c.2339T>G (STRC) ENSP00000440413.1:p.Val780Gly
NM_153700.2:c.4658T>G (STRC) MANE Select NP_714544.1:p.Val1553Gly
XM_011521277.1:c.5147T>G (STRC) XP_011519579.1:p.Val1716Gly
XM_011521278.1:c.4763T>G (STRC) XP_011519580.1:p.Val1588Gly
XM_011521279.1:c.4763T>G (STRC) XP_011519581.1:p.Val1588Gly