Canonical Allele Identifier: CA392160584

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600618C>G , CM000677.2:g.43600618C>G GRCh38
NC_000015.9:g.43892816C>G , CM000677.1:g.43892816C>G GRCh37
NC_000015.8:g.41680108C>G NCBI36
NG_011636.1:g.23183G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4909G>C (STRC) MANE Select ENSP00000401513.2:p.Ala1637Pro
ENST00000411560.1:n.142+1085C>G (CKMT1B)
ENST00000428650.5:c.*1942G>C (STRC) ENSP00000415991.1:n.*1942G>C
ENST00000440125.5:c.*2701G>C (STRC) ENSP00000394866.1:n.*2701G>C
ENST00000448437.6:n.2029G>C (STRC)
ENST00000450892.6:c.4909G>C (STRC) ENSP00000401513.2:p.Ala1637Pro
ENST00000460952.1:n.488G>C (STRC)
ENST00000471703.5:n.2863G>C (STRC)
ENST00000485556.5:n.3764G>C (STRC)
ENST00000541030.5:c.2590G>C (STRC) ENSP00000440413.1:p.Ala864Pro
NM_153700.2:c.4909G>C (STRC) MANE Select NP_714544.1:p.Ala1637Pro
XM_011521277.1:c.5398G>C (STRC) XP_011519579.1:p.Ala1800Pro
XM_011521278.1:c.5014G>C (STRC) XP_011519580.1:p.Ala1672Pro
XM_011521279.1:c.5014G>C (STRC) XP_011519581.1:p.Ala1672Pro