Canonical Allele Identifier: CA490145404

Linked Data

dbSNP Id: rs757113023

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601483T>G , CM000677.2:g.43601483T>G GRCh38
NC_000015.9:g.43893681T>G , CM000677.1:g.43893681T>G GRCh37
NC_000015.8:g.41680973T>G NCBI36
NG_011636.1:g.22318A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4614A>C (STRC) MANE Select ENSP00000401513.2:p.Leu1538=
ENST00000411560.1:n.142+1950T>G (CKMT1B)
ENST00000428650.5:c.*1647A>C (STRC) ENSP00000415991.1:n.*1647A>C
ENST00000440125.5:c.*2406A>C (STRC) ENSP00000394866.1:n.*2406A>C
ENST00000448437.6:n.1734A>C (STRC)
ENST00000450892.6:c.4614A>C (STRC) ENSP00000401513.2:p.Leu1538=
ENST00000460952.1:n.193A>C (STRC)
ENST00000471703.5:n.2568A>C (STRC)
ENST00000485556.5:n.3469A>C (STRC)
ENST00000493750.1:n.410A>C (STRC)
ENST00000541030.5:c.2295A>C (STRC) ENSP00000440413.1:p.Leu765=
NM_153700.2:c.4614A>C (STRC) MANE Select NP_714544.1:p.Leu1538=
XM_011521277.1:c.5103A>C (STRC) XP_011519579.1:p.Leu1701=
XM_011521278.1:c.4719A>C (STRC) XP_011519580.1:p.Leu1573=
XM_011521279.1:c.4719A>C (STRC) XP_011519581.1:p.Leu1573=