Canonical Allele Identifier: CA270007237

Linked Data

dbSNP Id: rs961928299

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600632T>C , CM000677.2:g.43600632T>C GRCh38
NC_000015.9:g.43892830T>C , CM000677.1:g.43892830T>C GRCh37
NC_000015.8:g.41680122T>C NCBI36
NG_011636.1:g.23169A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4895A>G (STRC) MANE Select ENSP00000401513.2:p.Gln1632Arg
ENST00000411560.1:n.142+1099T>C (CKMT1B)
ENST00000428650.5:c.*1928A>G (STRC) ENSP00000415991.1:n.*1928A>G
ENST00000440125.5:c.*2687A>G (STRC) ENSP00000394866.1:n.*2687A>G
ENST00000448437.6:n.2015A>G (STRC)
ENST00000450892.6:c.4895A>G (STRC) ENSP00000401513.2:p.Gln1632Arg
ENST00000460952.1:n.474A>G (STRC)
ENST00000471703.5:n.2849A>G (STRC)
ENST00000485556.5:n.3750A>G (STRC)
ENST00000541030.5:c.2576A>G (STRC) ENSP00000440413.1:p.Gln859Arg
NM_153700.2:c.4895A>G (STRC) MANE Select NP_714544.1:p.Gln1632Arg
XM_011521277.1:c.5384A>G (STRC) XP_011519579.1:p.Gln1795Arg
XM_011521278.1:c.5000A>G (STRC) XP_011519580.1:p.Gln1667Arg
XM_011521279.1:c.5000A>G (STRC) XP_011519581.1:p.Gln1667Arg