Canonical Allele Identifier: CA392164149

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43601541G>A , CM000677.2:g.43601541G>A GRCh38
NC_000015.9:g.43893739G>A , CM000677.1:g.43893739G>A GRCh37
NC_000015.8:g.41681031G>A NCBI36
NG_011636.1:g.22260C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4556C>T (STRC) MANE Select ENSP00000401513.2:p.Pro1519Leu
ENST00000411560.1:n.142+2008G>A (CKMT1B)
ENST00000428650.5:c.*1589C>T (STRC) ENSP00000415991.1:n.*1589C>T
ENST00000440125.5:c.*2348C>T (STRC) ENSP00000394866.1:n.*2348C>T
ENST00000448437.6:n.1676C>T (STRC)
ENST00000450892.6:c.4556C>T (STRC) ENSP00000401513.2:p.Pro1519Leu
ENST00000460952.1:n.135C>T (STRC)
ENST00000471703.5:n.2510C>T (STRC)
ENST00000485556.5:n.3411C>T (STRC)
ENST00000493750.1:n.352C>T (STRC)
ENST00000541030.5:c.2237C>T (STRC) ENSP00000440413.1:p.Pro746Leu
NM_153700.2:c.4556C>T (STRC) MANE Select NP_714544.1:p.Pro1519Leu
XM_011521277.1:c.5045C>T (STRC) XP_011519579.1:p.Pro1682Leu
XM_011521278.1:c.4661C>T (STRC) XP_011519580.1:p.Pro1554Leu
XM_011521279.1:c.4661C>T (STRC) XP_011519581.1:p.Pro1554Leu