Canonical Allele Identifier: CA392168795

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43604731A>G , CM000677.2:g.43604731A>G GRCh38
NC_000015.9:g.43896929A>G , CM000677.1:g.43896929A>G GRCh37
NC_000015.8:g.41684221A>G NCBI36
NG_011636.1:g.19070T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000450892.7:c.4046T>C (STRC) MANE Select ENSP00000401513.2:p.Leu1349Pro
ENST00000411560.1:n.143-53A>G (CKMT1B)
ENST00000428650.5:c.*1249T>C (STRC) ENSP00000415991.1:n.*1249T>C
ENST00000440125.5:c.*1838T>C (STRC) ENSP00000394866.1:n.*1838T>C
ENST00000448437.6:n.1665+3132T>C (STRC)
ENST00000450892.6:c.4046T>C (STRC) ENSP00000401513.2:p.Leu1349Pro
ENST00000455136.5:c.1077T>C (STRC)
ENST00000471703.5:n.2000T>C (STRC)
ENST00000485556.5:n.2901T>C (STRC)
ENST00000541030.5:c.1727T>C (STRC) ENSP00000440413.1:p.Leu576Pro
NM_153700.2:c.4046T>C (STRC) MANE Select NP_714544.1:p.Leu1349Pro
XM_011521277.1:c.4535T>C (STRC) XP_011519579.1:p.Leu1512Pro
XM_011521278.1:c.4151T>C (STRC) XP_011519580.1:p.Leu1384Pro
XM_011521279.1:c.4151T>C (STRC) XP_011519581.1:p.Leu1384Pro