Canonical Allele Identifier: CA4112260
Community Standard Title: NM_001130965.3(SUN1):c.1513G>A (p.Val505Ile)
Gene: SUN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.857946G>A , CM000669.2:g.857946G>A GRCh38
NC_000007.13:g.897583G>A , CM000669.1:g.897583G>A GRCh37
NC_000007.12:g.864109G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001130965.3:c.1513G>A MANE Select NP_001124437.1:p.Val505Ile
ENST00000401592.6:c.1513G>A MANE Select ENSP00000384015.1:p.Val505Ile
NM_001130965.2:c.1513G>A NP_001124437.1:p.Val505Ile
NM_001171944.1:c.1204G>A NP_001165415.1:p.Val402Ile
NM_001171944.2:c.1204G>A NP_001165415.1:p.Val402Ile
NM_001367633.1:c.1513G>A NP_001354562.1:p.Val505Ile
NM_001367634.1:c.1513G>A NP_001354563.1:p.Val505Ile
NM_001367635.1:c.1162G>A NP_001354564.1:p.Val388Ile
NM_001367636.1:c.1753G>A NP_001354565.1:p.Val585Ile
NM_001367638.1:c.1621G>A NP_001354567.1:p.Val541Ile
NM_001367639.1:c.1054G>A NP_001354568.1:p.Val352Ile
NM_001367640.1:c.1693G>A NP_001354569.1:p.Val565Ile
NM_001367641.1:c.1795G>A NP_001354570.1:p.Val599Ile
NM_001367642.1:c.1498G>A NP_001354571.1:p.Val500Ile
NM_001367643.1:c.1705G>A NP_001354572.1:p.Val569Ile
NM_001367644.1:c.1444G>A NP_001354573.1:p.Val482Ile
NM_001367645.1:c.1561G>A NP_001354574.1:p.Val521Ile
NM_001367646.1:c.1642G>A NP_001354575.1:p.Val548Ile
NM_001367647.1:c.1555G>A NP_001354576.1:p.Val519Ile
NM_001367648.1:c.1375G>A NP_001354577.1:p.Val459Ile
NM_001367649.1:c.1558G>A NP_001354578.1:p.Val520Ile
NM_001367651.1:c.1927G>A NP_001354580.1:p.Val643Ile
NM_001367653.1:c.1513G>A NP_001354582.1:p.Val505Ile
NM_001367655.1:c.1723G>A NP_001354584.1:p.Val575Ile
NM_001367658.1:c.799G>A NP_001354587.1:p.Val267Ile
NM_001367660.1:c.1330G>A NP_001354589.1:p.Val444Ile
NM_001367662.1:c.1360G>A NP_001354591.1:p.Val454Ile
NM_001367664.1:c.1624G>A NP_001354593.1:p.Val542Ile
NM_001367665.1:c.1510G>A NP_001354594.1:p.Val504Ile
NM_001367666.1:c.1756G>A NP_001354595.1:p.Val586Ile
NM_001367667.1:c.1474G>A NP_001354596.1:p.Val492Ile
NM_001367668.1:c.1555G>A NP_001354597.1:p.Val519Ile
NM_001367669.1:c.1540G>A NP_001354598.1:p.Val514Ile
NM_001367670.1:c.1363G>A NP_001354599.1:p.Val455Ile
NM_001367671.1:c.1360G>A NP_001354600.1:p.Val454Ile
NM_001367672.1:c.1480G>A NP_001354601.1:p.Val494Ile
NM_001367673.1:c.1645G>A NP_001354602.1:p.Val549Ile
NM_001367674.1:c.1711G>A NP_001354603.1:p.Val571Ile
NM_001367675.1:c.1663G>A NP_001354604.1:p.Val555Ile
NM_001367676.1:c.1696G>A NP_001354605.1:p.Val566Ile
NM_001367677.1:c.1819G>A NP_001354606.1:p.Val607Ile
NM_001367678.1:c.1903G>A NP_001354607.1:p.Val635Ile
NM_001367679.1:c.1471G>A NP_001354608.1:p.Val491Ile
NM_001367680.1:c.1447G>A NP_001354609.1:p.Val483Ile
NM_001367681.1:c.1561G>A NP_001354610.1:p.Val521Ile
NM_001367682.1:c.1795G>A NP_001354611.1:p.Val599Ile
NM_001367683.1:c.1597G>A NP_001354612.1:p.Val533Ile
NM_001367684.1:c.1672G>A NP_001354613.1:p.Val558Ile
NM_001367685.1:c.1624G>A NP_001354614.1:p.Val542Ile
NM_001367686.1:c.1345G>A NP_001354615.1:p.Val449Ile
NM_001367688.1:c.1594G>A NP_001354617.1:p.Val532Ile
NM_001367689.1:c.1474G>A NP_001354618.1:p.Val492Ile
NM_001367690.1:c.1804G>A NP_001354619.1:p.Val602Ile
NM_001367691.1:c.1753G>A NP_001354620.1:p.Val585Ile
NM_001367692.1:c.1822G>A NP_001354621.1:p.Val608Ile
NM_001367693.1:c.1708G>A NP_001354622.1:p.Val570Ile
NM_001367694.1:c.1510G>A NP_001354623.1:p.Val504Ile
NM_001367695.1:c.1435G>A NP_001354624.1:p.Val479Ile
NM_001367696.1:c.1591G>A NP_001354625.1:p.Val531Ile
NM_001367697.1:c.1708G>A NP_001354626.1:p.Val570Ile
NM_001367698.1:c.1792G>A NP_001354627.1:p.Val598Ile
NM_001367699.1:c.1903G>A NP_001354628.1:p.Val635Ile
NM_001367700.1:c.1723G>A NP_001354629.1:p.Val575Ile
NM_001367701.1:c.1414G>A NP_001354630.1:p.Val472Ile
NM_001367702.1:c.1525G>A NP_001354631.1:p.Val509Ile
NM_001367703.1:c.1906G>A NP_001354632.1:p.Val636Ile
NM_001367704.1:c.1525G>A NP_001354633.1:p.Val509Ile
NM_001367705.1:c.1906G>A NP_001354634.1:p.Val636Ile
NM_001367706.1:c.1645G>A NP_001354635.1:p.Val549Ile
NM_001367707.1:c.1642G>A NP_001354636.1:p.Val548Ile
NM_001367708.1:c.946G>A NP_001354637.1:p.Val316Ile
NM_025154.5:c.1264G>A NP_079430.3:p.Val422Ile
NM_025154.6:c.1264G>A NP_079430.3:p.Val422Ile
NR_160281.1:n.1531G>A
NR_160282.1:n.1924G>A
NR_160283.1:n.1665G>A
ENST00000389574.7:c.1264G>A ENSP00000374225.3:p.Val422Ile
ENST00000401592.5:c.1513G>A ENSP00000384015.1:p.Val505Ile
ENST00000405266.5:c.1624G>A ENSP00000384116.1:p.Val542Ile
ENST00000413171.6:n.2072G>A
ENST00000425407.6:c.1264G>A ENSP00000392309.2:p.Val422Ile
ENST00000429178.5:c.1288G>A ENSP00000409909.1:p.Val430Ile
ENST00000433212.5:c.1058G>A
ENST00000452783.6:c.1204G>A ENSP00000413439.2:p.Val402Ile
ENST00000457861.1:c.666G>A
ENST00000475971.5:n.1622G>A