Canonical Allele Identifier: CA366534822
Community Standard Title: NM_001130965.3(SUN1):c.1923G>T (p.Met641Ile)
Gene: SUN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.866010G>T , CM000669.2:g.866010G>T GRCh38
NC_000007.13:g.905647G>T , CM000669.1:g.905647G>T GRCh37
NC_000007.12:g.872173G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001130965.3:c.1923G>T MANE Select NP_001124437.1:p.Met641Ile
ENST00000401592.6:c.1923G>T MANE Select ENSP00000384015.1:p.Met641Ile
NM_001130965.2:c.1923G>T NP_001124437.1:p.Met641Ile
NM_001171944.1:c.1614G>T NP_001165415.1:p.Met538Ile
NM_001171944.2:c.1614G>T NP_001165415.1:p.Met538Ile
NM_001367633.1:c.1923G>T NP_001354562.1:p.Met641Ile
NM_001367634.1:c.1923G>T NP_001354563.1:p.Met641Ile
NM_001367635.1:c.1572G>T NP_001354564.1:p.Met524Ile
NM_001367636.1:c.2163G>T NP_001354565.1:p.Met721Ile
NM_001367638.1:c.2031G>T NP_001354567.1:p.Met677Ile
NM_001367639.1:c.1464G>T NP_001354568.1:p.Met488Ile
NM_001367640.1:c.2103G>T NP_001354569.1:p.Met701Ile
NM_001367641.1:c.2205G>T NP_001354570.1:p.Met735Ile
NM_001367642.1:c.1908G>T NP_001354571.1:p.Met636Ile
NM_001367643.1:c.2115G>T NP_001354572.1:p.Met705Ile
NM_001367644.1:c.1854G>T NP_001354573.1:p.Met618Ile
NM_001367645.1:c.1971G>T NP_001354574.1:p.Met657Ile
NM_001367646.1:c.2052G>T NP_001354575.1:p.Met684Ile
NM_001367647.1:c.1965G>T NP_001354576.1:p.Met655Ile
NM_001367648.1:c.1785G>T NP_001354577.1:p.Met595Ile
NM_001367649.1:c.1968G>T NP_001354578.1:p.Met656Ile
NM_001367651.1:c.2337G>T NP_001354580.1:p.Met779Ile
NM_001367653.1:c.1923G>T NP_001354582.1:p.Met641Ile
NM_001367655.1:c.2133G>T NP_001354584.1:p.Met711Ile
NM_001367658.1:c.1209G>T NP_001354587.1:p.Met403Ile
NM_001367660.1:c.1740G>T NP_001354589.1:p.Met580Ile
NM_001367662.1:c.1770G>T NP_001354591.1:p.Met590Ile
NM_001367664.1:c.2034G>T NP_001354593.1:p.Met678Ile
NM_001367665.1:c.1920G>T NP_001354594.1:p.Met640Ile
NM_001367666.1:c.2166G>T NP_001354595.1:p.Met722Ile
NM_001367667.1:c.1884G>T NP_001354596.1:p.Met628Ile
NM_001367668.1:c.1965G>T NP_001354597.1:p.Met655Ile
NM_001367669.1:c.1950G>T NP_001354598.1:p.Met650Ile
NM_001367670.1:c.1773G>T NP_001354599.1:p.Met591Ile
NM_001367671.1:c.1770G>T NP_001354600.1:p.Met590Ile
NM_001367672.1:c.1890G>T NP_001354601.1:p.Met630Ile
NM_001367673.1:c.2055G>T NP_001354602.1:p.Met685Ile
NM_001367674.1:c.2121G>T NP_001354603.1:p.Met707Ile
NM_001367675.1:c.2073G>T NP_001354604.1:p.Met691Ile
NM_001367676.1:c.2106G>T NP_001354605.1:p.Met702Ile
NM_001367677.1:c.2229G>T NP_001354606.1:p.Met743Ile
NM_001367678.1:c.2313G>T NP_001354607.1:p.Met771Ile
NM_001367679.1:c.1881G>T NP_001354608.1:p.Met627Ile
NM_001367680.1:c.1857G>T NP_001354609.1:p.Met619Ile
NM_001367681.1:c.1971G>T NP_001354610.1:p.Met657Ile
NM_001367682.1:c.2205G>T NP_001354611.1:p.Met735Ile
NM_001367683.1:c.2007G>T NP_001354612.1:p.Met669Ile
NM_001367684.1:c.2082G>T NP_001354613.1:p.Met694Ile
NM_001367685.1:c.2034G>T NP_001354614.1:p.Met678Ile
NM_001367686.1:c.1755G>T NP_001354615.1:p.Met585Ile
NM_001367688.1:c.2004G>T NP_001354617.1:p.Met668Ile
NM_001367689.1:c.1884G>T NP_001354618.1:p.Met628Ile
NM_001367690.1:c.2214G>T NP_001354619.1:p.Met738Ile
NM_001367691.1:c.2163G>T NP_001354620.1:p.Met721Ile
NM_001367692.1:c.2232G>T NP_001354621.1:p.Met744Ile
NM_001367693.1:c.2118G>T NP_001354622.1:p.Met706Ile
NM_001367694.1:c.1920G>T NP_001354623.1:p.Met640Ile
NM_001367695.1:c.1845G>T NP_001354624.1:p.Met615Ile
NM_001367696.1:c.2001G>T NP_001354625.1:p.Met667Ile
NM_001367697.1:c.2118G>T NP_001354626.1:p.Met706Ile
NM_001367698.1:c.2202G>T NP_001354627.1:p.Met734Ile
NM_001367699.1:c.2313G>T NP_001354628.1:p.Met771Ile
NM_001367700.1:c.2133G>T NP_001354629.1:p.Met711Ile
NM_001367701.1:c.1824G>T NP_001354630.1:p.Met608Ile
NM_001367702.1:c.1935G>T NP_001354631.1:p.Met645Ile
NM_001367703.1:c.2316G>T NP_001354632.1:p.Met772Ile
NM_001367704.1:c.1935G>T NP_001354633.1:p.Met645Ile
NM_001367705.1:c.2316G>T NP_001354634.1:p.Met772Ile
NM_001367706.1:c.2055G>T NP_001354635.1:p.Met685Ile
NM_001367707.1:c.2052G>T NP_001354636.1:p.Met684Ile
NM_001367708.1:c.1356G>T NP_001354637.1:p.Met452Ile
NM_025154.5:c.1674G>T NP_079430.3:p.Met558Ile
NM_025154.6:c.1674G>T NP_079430.3:p.Met558Ile
NR_160281.1:n.1971G>T
NR_160282.1:n.2334G>T
NR_160283.1:n.2075G>T
ENST00000389574.7:c.1674G>T ENSP00000374225.3:p.Met558Ile
ENST00000401592.5:c.1923G>T ENSP00000384015.1:p.Met641Ile
ENST00000405266.5:c.2034G>T ENSP00000384116.1:p.Met678Ile
ENST00000413171.6:n.2482G>T
ENST00000425407.6:c.1674G>T ENSP00000392309.2:p.Met558Ile
ENST00000429178.5:c.1698G>T ENSP00000409909.1:p.Met566Ile
ENST00000433212.5:c.1468G>T
ENST00000452783.6:c.1614G>T ENSP00000413439.2:p.Met538Ile
ENST00000457861.1:c.1076G>T
ENST00000475971.5:n.2032G>T