Canonical Allele Identifier: CA392168769

Linked Data

dbSNP Id: rs2085699619

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43604726G>T , CM000677.2:g.43604726G>T GRCh38
NC_000015.9:g.43896924G>T , CM000677.1:g.43896924G>T GRCh37
NC_000015.8:g.41684216G>T NCBI36
NG_011636.1:g.19075C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4051C>A (STRC) MANE Select ENSP00000401513.2:p.Gln1351Lys
ENST00000411560.1:n.143-58G>T (CKMT1B)
ENST00000428650.5:c.*1254C>A (STRC) ENSP00000415991.1:n.*1254C>A
ENST00000440125.5:c.*1843C>A (STRC) ENSP00000394866.1:n.*1843C>A
ENST00000448437.6:n.1665+3137C>A (STRC)
ENST00000450892.6:c.4051C>A (STRC) ENSP00000401513.2:p.Gln1351Lys
ENST00000455136.5:c.1082C>A (STRC)
ENST00000471703.5:n.2005C>A (STRC)
ENST00000485556.5:n.2906C>A (STRC)
ENST00000541030.5:c.1732C>A (STRC) ENSP00000440413.1:p.Gln578Lys
NM_153700.2:c.4051C>A (STRC) MANE Select NP_714544.1:p.Gln1351Lys
XM_011521277.1:c.4540C>A (STRC) XP_011519579.1:p.Gln1514Lys
XM_011521278.1:c.4156C>A (STRC) XP_011519580.1:p.Gln1386Lys
XM_011521279.1:c.4156C>A (STRC) XP_011519581.1:p.Gln1386Lys