Canonical Allele Identifier: CA392162564

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600881C>A , CM000677.2:g.43600881C>A GRCh38
NC_000015.9:g.43893079C>A , CM000677.1:g.43893079C>A GRCh37
NC_000015.8:g.41680371C>A NCBI36
NG_011636.1:g.22920G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000450892.7:c.4835G>T (STRC) MANE Select ENSP00000401513.2:p.Trp1612Leu
ENST00000411560.1:n.142+1348C>A (CKMT1B)
ENST00000428650.5:c.*1868G>T (STRC) ENSP00000415991.1:n.*1868G>T
ENST00000440125.5:c.*2627G>T (STRC) ENSP00000394866.1:n.*2627G>T
ENST00000448437.6:n.1955G>T (STRC)
ENST00000450892.6:c.4835G>T (STRC) ENSP00000401513.2:p.Trp1612Leu
ENST00000460952.1:n.414G>T (STRC)
ENST00000471703.5:n.2789G>T (STRC)
ENST00000485556.5:n.3690G>T (STRC)
ENST00000541030.5:c.2516G>T (STRC) ENSP00000440413.1:p.Trp839Leu
NM_153700.2:c.4835G>T (STRC) MANE Select NP_714544.1:p.Trp1612Leu
XM_011521277.1:c.5324G>T (STRC) XP_011519579.1:p.Trp1775Leu
XM_011521278.1:c.4940G>T (STRC) XP_011519580.1:p.Trp1647Leu
XM_011521279.1:c.4940G>T (STRC) XP_011519581.1:p.Trp1647Leu