Canonical Allele Identifier: CA490148746

Linked Data

MyVariant Identifiers: chr15:g.43896850A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43604652A>C , CM000677.2:g.43604652A>C GRCh38
NC_000015.9:g.43896850A>C , CM000677.1:g.43896850A>C GRCh37
NC_000015.8:g.41684142A>C NCBI36
NG_011636.1:g.19149T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4125T>G (STRC) MANE Select ENSP00000401513.2:p.Leu1375=
ENST00000411560.1:n.143-132A>C (CKMT1B)
ENST00000428650.5:c.*1328T>G (STRC) ENSP00000415991.1:n.*1328T>G
ENST00000440125.5:c.*1917T>G (STRC) ENSP00000394866.1:n.*1917T>G
ENST00000448437.6:n.1666-3101T>G (STRC)
ENST00000450892.6:c.4125T>G (STRC) ENSP00000401513.2:p.Leu1375=
ENST00000471703.5:n.2079T>G (STRC)
ENST00000485556.5:n.2980T>G (STRC)
ENST00000541030.5:c.1806T>G (STRC) ENSP00000440413.1:p.Leu602=
NM_153700.2:c.4125T>G (STRC) MANE Select NP_714544.1:p.Leu1375=
XM_011521277.1:c.4614T>G (STRC) XP_011519579.1:p.Leu1538=
XM_011521278.1:c.4230T>G (STRC) XP_011519580.1:p.Leu1410=
XM_011521279.1:c.4230T>G (STRC) XP_011519581.1:p.Leu1410=