Canonical Allele Identifier: CA392163678

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601451A>C , CM000677.2:g.43601451A>C GRCh38
NC_000015.9:g.43893649A>C , CM000677.1:g.43893649A>C GRCh37
NC_000015.8:g.41680941A>C NCBI36
NG_011636.1:g.22350T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4646T>G (STRC) MANE Select ENSP00000401513.2:p.Val1549Gly
ENST00000411560.1:n.142+1918A>C (CKMT1B)
ENST00000428650.5:c.*1679T>G (STRC) ENSP00000415991.1:n.*1679T>G
ENST00000440125.5:c.*2438T>G (STRC) ENSP00000394866.1:n.*2438T>G
ENST00000448437.6:n.1766T>G (STRC)
ENST00000450892.6:c.4646T>G (STRC) ENSP00000401513.2:p.Val1549Gly
ENST00000460952.1:n.225T>G (STRC)
ENST00000471703.5:n.2600T>G (STRC)
ENST00000485556.5:n.3501T>G (STRC)
ENST00000493750.1:n.442T>G (STRC)
ENST00000541030.5:c.2327T>G (STRC) ENSP00000440413.1:p.Val776Gly
NM_153700.2:c.4646T>G (STRC) MANE Select NP_714544.1:p.Val1549Gly
XM_011521277.1:c.5135T>G (STRC) XP_011519579.1:p.Val1712Gly
XM_011521278.1:c.4751T>G (STRC) XP_011519580.1:p.Val1584Gly
XM_011521279.1:c.4751T>G (STRC) XP_011519581.1:p.Val1584Gly