Canonical Allele Identifier: CA4112188
Community Standard Title: NM_001130965.3(SUN1):c.1390A>G (p.Ile464Val)
Gene: SUN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.856397A>G , CM000669.2:g.856397A>G GRCh38
NC_000007.13:g.896034A>G , CM000669.1:g.896034A>G GRCh37
NC_000007.12:g.862560A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001130965.3:c.1390A>G MANE Select NP_001124437.1:p.Ile464Val
ENST00000401592.6:c.1390A>G MANE Select ENSP00000384015.1:p.Ile464Val
NM_001130965.2:c.1390A>G NP_001124437.1:p.Ile464Val
NM_001171944.1:c.1081A>G NP_001165415.1:p.Ile361Val
NM_001171944.2:c.1081A>G NP_001165415.1:p.Ile361Val
NM_001367633.1:c.1390A>G NP_001354562.1:p.Ile464Val
NM_001367634.1:c.1390A>G NP_001354563.1:p.Ile464Val
NM_001367635.1:c.1039A>G NP_001354564.1:p.Ile347Val
NM_001367636.1:c.1630A>G NP_001354565.1:p.Ile544Val
NM_001367638.1:c.1498A>G NP_001354567.1:p.Ile500Val
NM_001367639.1:c.931A>G NP_001354568.1:p.Ile311Val
NM_001367640.1:c.1570A>G NP_001354569.1:p.Ile524Val
NM_001367641.1:c.1672A>G NP_001354570.1:p.Ile558Val
NM_001367642.1:c.1375A>G NP_001354571.1:p.Ile459Val
NM_001367643.1:c.1582A>G NP_001354572.1:p.Ile528Val
NM_001367644.1:c.1321A>G NP_001354573.1:p.Ile441Val
NM_001367645.1:c.1438A>G NP_001354574.1:p.Ile480Val
NM_001367646.1:c.1519A>G NP_001354575.1:p.Ile507Val
NM_001367647.1:c.1432A>G NP_001354576.1:p.Ile478Val
NM_001367648.1:c.1252A>G NP_001354577.1:p.Ile418Val
NM_001367649.1:c.1435A>G NP_001354578.1:p.Ile479Val
NM_001367651.1:c.1804A>G NP_001354580.1:p.Ile602Val
NM_001367653.1:c.1390A>G NP_001354582.1:p.Ile464Val
NM_001367655.1:c.1600A>G NP_001354584.1:p.Ile534Val
NM_001367658.1:c.676A>G NP_001354587.1:p.Ile226Val
NM_001367660.1:c.1207A>G NP_001354589.1:p.Ile403Val
NM_001367662.1:c.1237A>G NP_001354591.1:p.Ile413Val
NM_001367664.1:c.1501A>G NP_001354593.1:p.Ile501Val
NM_001367665.1:c.1387A>G NP_001354594.1:p.Ile463Val
NM_001367666.1:c.1633A>G NP_001354595.1:p.Ile545Val
NM_001367667.1:c.1351A>G NP_001354596.1:p.Ile451Val
NM_001367668.1:c.1432A>G NP_001354597.1:p.Ile478Val
NM_001367669.1:c.1417A>G NP_001354598.1:p.Ile473Val
NM_001367670.1:c.1240A>G NP_001354599.1:p.Ile414Val
NM_001367671.1:c.1237A>G NP_001354600.1:p.Ile413Val
NM_001367672.1:c.1357A>G NP_001354601.1:p.Ile453Val
NM_001367673.1:c.1522A>G NP_001354602.1:p.Ile508Val
NM_001367674.1:c.1588A>G NP_001354603.1:p.Ile530Val
NM_001367675.1:c.1540A>G NP_001354604.1:p.Ile514Val
NM_001367676.1:c.1573A>G NP_001354605.1:p.Ile525Val
NM_001367677.1:c.1696A>G NP_001354606.1:p.Ile566Val
NM_001367678.1:c.1780A>G NP_001354607.1:p.Ile594Val
NM_001367679.1:c.1348A>G NP_001354608.1:p.Ile450Val
NM_001367680.1:c.1324A>G NP_001354609.1:p.Ile442Val
NM_001367681.1:c.1438A>G NP_001354610.1:p.Ile480Val
NM_001367682.1:c.1672A>G NP_001354611.1:p.Ile558Val
NM_001367683.1:c.1474A>G NP_001354612.1:p.Ile492Val
NM_001367684.1:c.1549A>G NP_001354613.1:p.Ile517Val
NM_001367685.1:c.1501A>G NP_001354614.1:p.Ile501Val
NM_001367686.1:c.1222A>G NP_001354615.1:p.Ile408Val
NM_001367687.1:c.1780A>G NP_001354616.1:p.Ile594Val
NM_001367688.1:c.1471A>G NP_001354617.1:p.Ile491Val
NM_001367689.1:c.1351A>G NP_001354618.1:p.Ile451Val
NM_001367690.1:c.1681A>G NP_001354619.1:p.Ile561Val
NM_001367691.1:c.1630A>G NP_001354620.1:p.Ile544Val
NM_001367692.1:c.1699A>G NP_001354621.1:p.Ile567Val
NM_001367693.1:c.1585A>G NP_001354622.1:p.Ile529Val
NM_001367694.1:c.1387A>G NP_001354623.1:p.Ile463Val
NM_001367695.1:c.1312A>G NP_001354624.1:p.Ile438Val
NM_001367696.1:c.1468A>G NP_001354625.1:p.Ile490Val
NM_001367697.1:c.1585A>G NP_001354626.1:p.Ile529Val
NM_001367698.1:c.1669A>G NP_001354627.1:p.Ile557Val
NM_001367699.1:c.1780A>G NP_001354628.1:p.Ile594Val
NM_001367700.1:c.1600A>G NP_001354629.1:p.Ile534Val
NM_001367701.1:c.1291A>G NP_001354630.1:p.Ile431Val
NM_001367702.1:c.1402A>G NP_001354631.1:p.Ile468Val
NM_001367703.1:c.1783A>G NP_001354632.1:p.Ile595Val
NM_001367704.1:c.1402A>G NP_001354633.1:p.Ile468Val
NM_001367705.1:c.1783A>G NP_001354634.1:p.Ile595Val
NM_001367706.1:c.1522A>G NP_001354635.1:p.Ile508Val
NM_001367707.1:c.1519A>G NP_001354636.1:p.Ile507Val
NM_001367708.1:c.823A>G NP_001354637.1:p.Ile275Val
NM_025154.5:c.1141A>G NP_079430.3:p.Ile381Val
NM_025154.6:c.1141A>G NP_079430.3:p.Ile381Val
NR_160281.1:n.1408A>G
NR_160282.1:n.1801A>G
NR_160283.1:n.1542A>G
ENST00000389574.7:c.1141A>G ENSP00000374225.3:p.Ile381Val
ENST00000401592.5:c.1390A>G ENSP00000384015.1:p.Ile464Val
ENST00000405266.5:c.1501A>G ENSP00000384116.1:p.Ile501Val
ENST00000413171.6:n.1949A>G
ENST00000425407.6:c.1141A>G ENSP00000392309.2:p.Ile381Val
ENST00000429178.5:c.1165A>G ENSP00000409909.1:p.Ile389Val
ENST00000433212.5:c.935A>G
ENST00000452783.6:c.1081A>G ENSP00000413439.2:p.Ile361Val
ENST00000457861.1:c.543A>G
ENST00000475971.5:n.1499A>G