Canonical Allele Identifier: CA392157888

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43599962T>G , CM000677.2:g.43599962T>G GRCh38
NC_000015.9:g.43892160T>G , CM000677.1:g.43892160T>G GRCh37
NC_000015.8:g.41679452T>G NCBI36
NG_011636.1:g.23839A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.5237A>C (STRC) MANE Select ENSP00000401513.2:p.Gln1746Pro
ENST00000411560.1:n.142+429T>G (CKMT1B)
ENST00000428650.5:c.*2270A>C (STRC) ENSP00000415991.1:n.*2270A>C
ENST00000440125.5:c.*3029A>C (STRC) ENSP00000394866.1:n.*3029A>C
ENST00000448437.6:n.2357A>C (STRC)
ENST00000450892.6:c.5237A>C (STRC) ENSP00000401513.2:p.Gln1746Pro
ENST00000471703.5:n.3191A>C (STRC)
ENST00000485556.5:n.4092A>C (STRC)
ENST00000541030.5:c.2918A>C (STRC) ENSP00000440413.1:p.Gln973Pro
NM_153700.2:c.5237A>C (STRC) MANE Select NP_714544.1:p.Gln1746Pro
XM_011521277.1:c.5726A>C (STRC) XP_011519579.1:p.Gln1909Pro
XM_011521278.1:c.5342A>C (STRC) XP_011519580.1:p.Gln1781Pro
XM_011521279.1:c.5342A>C (STRC) XP_011519581.1:p.Gln1781Pro