Canonical Allele Identifier: CA392162176

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.43600651G>T , CM000677.2:g.43600651G>T GRCh38
NC_000015.9:g.43892849G>T , CM000677.1:g.43892849G>T GRCh37
NC_000015.8:g.41680141G>T NCBI36
NG_011636.1:g.23150C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000450892.7:c.4876C>A (STRC) MANE Select ENSP00000401513.2:p.Leu1626Ile
ENST00000411560.1:n.142+1118G>T (CKMT1B)
ENST00000428650.5:c.*1909C>A (STRC) ENSP00000415991.1:n.*1909C>A
ENST00000440125.5:c.*2668C>A (STRC) ENSP00000394866.1:n.*2668C>A
ENST00000448437.6:n.1996C>A (STRC)
ENST00000450892.6:c.4876C>A (STRC) ENSP00000401513.2:p.Leu1626Ile
ENST00000460952.1:n.455C>A (STRC)
ENST00000471703.5:n.2830C>A (STRC)
ENST00000485556.5:n.3731C>A (STRC)
ENST00000541030.5:c.2557C>A (STRC) ENSP00000440413.1:p.Leu853Ile
NM_153700.2:c.4876C>A (STRC) MANE Select NP_714544.1:p.Leu1626Ile
XM_011521277.1:c.5365C>A (STRC) XP_011519579.1:p.Leu1789Ile
XM_011521278.1:c.4981C>A (STRC) XP_011519580.1:p.Leu1661Ile
XM_011521279.1:c.4981C>A (STRC) XP_011519581.1:p.Leu1661Ile