Canonical Allele Identifier: CA2173252280

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43604732G= , CM000677.2:g.43604732G= GRCh38
NC_000015.9:g.43896930G= , CM000677.1:g.43896930G= GRCh37
NC_000015.8:g.41684222G= NCBI36
NG_011636.1:g.19069C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4045C= (STRC) MANE Select ENSP00000401513.2:p.Leu1349=
ENST00000411560.1:n.143-52G= (CKMT1B)
ENST00000428650.5:c.*1248C= (STRC) ENSP00000415991.1:n.*1248C=
ENST00000440125.5:c.*1837C= (STRC) ENSP00000394866.1:n.*1837C=
ENST00000448437.6:n.1665+3131C= (STRC)
ENST00000450892.6:c.4045C= (STRC) ENSP00000401513.2:p.Leu1349=
ENST00000455136.5:c.1076C= (STRC)
ENST00000471703.5:n.1999C= (STRC)
ENST00000485556.5:n.2900C= (STRC)
ENST00000541030.5:c.1726C= (STRC) ENSP00000440413.1:p.Leu576=
NM_153700.2:c.4045C= (STRC) MANE Select NP_714544.1:p.Leu1349=
XM_011521277.1:c.4534C= (STRC) XP_011519579.1:p.Leu1512=
XM_011521278.1:c.4150C= (STRC) XP_011519580.1:p.Leu1384=
XM_011521279.1:c.4150C= (STRC) XP_011519581.1:p.Leu1384=