Canonical Allele Identifier: CA4112255
Community Standard Title: NM_001130965.3(SUN1):c.1492G>A (p.Gly498Ser)
Gene: SUN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.857925G>A , CM000669.2:g.857925G>A GRCh38
NC_000007.13:g.897562G>A , CM000669.1:g.897562G>A GRCh37
NC_000007.12:g.864088G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001130965.3:c.1492G>A MANE Select NP_001124437.1:p.Gly498Ser
ENST00000401592.6:c.1492G>A MANE Select ENSP00000384015.1:p.Gly498Ser
NM_001130965.2:c.1492G>A NP_001124437.1:p.Gly498Ser
NM_001171944.1:c.1183G>A NP_001165415.1:p.Gly395Ser
NM_001171944.2:c.1183G>A NP_001165415.1:p.Gly395Ser
NM_001367633.1:c.1492G>A NP_001354562.1:p.Gly498Ser
NM_001367634.1:c.1492G>A NP_001354563.1:p.Gly498Ser
NM_001367635.1:c.1141G>A NP_001354564.1:p.Gly381Ser
NM_001367636.1:c.1732G>A NP_001354565.1:p.Gly578Ser
NM_001367638.1:c.1600G>A NP_001354567.1:p.Gly534Ser
NM_001367639.1:c.1033G>A NP_001354568.1:p.Gly345Ser
NM_001367640.1:c.1672G>A NP_001354569.1:p.Gly558Ser
NM_001367641.1:c.1774G>A NP_001354570.1:p.Gly592Ser
NM_001367642.1:c.1477G>A NP_001354571.1:p.Gly493Ser
NM_001367643.1:c.1684G>A NP_001354572.1:p.Gly562Ser
NM_001367644.1:c.1423G>A NP_001354573.1:p.Gly475Ser
NM_001367645.1:c.1540G>A NP_001354574.1:p.Gly514Ser
NM_001367646.1:c.1621G>A NP_001354575.1:p.Gly541Ser
NM_001367647.1:c.1534G>A NP_001354576.1:p.Gly512Ser
NM_001367648.1:c.1354G>A NP_001354577.1:p.Gly452Ser
NM_001367649.1:c.1537G>A NP_001354578.1:p.Gly513Ser
NM_001367651.1:c.1906G>A NP_001354580.1:p.Gly636Ser
NM_001367653.1:c.1492G>A NP_001354582.1:p.Gly498Ser
NM_001367655.1:c.1702G>A NP_001354584.1:p.Gly568Ser
NM_001367658.1:c.778G>A NP_001354587.1:p.Gly260Ser
NM_001367660.1:c.1309G>A NP_001354589.1:p.Gly437Ser
NM_001367662.1:c.1339G>A NP_001354591.1:p.Gly447Ser
NM_001367664.1:c.1603G>A NP_001354593.1:p.Gly535Ser
NM_001367665.1:c.1489G>A NP_001354594.1:p.Gly497Ser
NM_001367666.1:c.1735G>A NP_001354595.1:p.Gly579Ser
NM_001367667.1:c.1453G>A NP_001354596.1:p.Gly485Ser
NM_001367668.1:c.1534G>A NP_001354597.1:p.Gly512Ser
NM_001367669.1:c.1519G>A NP_001354598.1:p.Gly507Ser
NM_001367670.1:c.1342G>A NP_001354599.1:p.Gly448Ser
NM_001367671.1:c.1339G>A NP_001354600.1:p.Gly447Ser
NM_001367672.1:c.1459G>A NP_001354601.1:p.Gly487Ser
NM_001367673.1:c.1624G>A NP_001354602.1:p.Gly542Ser
NM_001367674.1:c.1690G>A NP_001354603.1:p.Gly564Ser
NM_001367675.1:c.1642G>A NP_001354604.1:p.Gly548Ser
NM_001367676.1:c.1675G>A NP_001354605.1:p.Gly559Ser
NM_001367677.1:c.1798G>A NP_001354606.1:p.Gly600Ser
NM_001367678.1:c.1882G>A NP_001354607.1:p.Gly628Ser
NM_001367679.1:c.1450G>A NP_001354608.1:p.Gly484Ser
NM_001367680.1:c.1426G>A NP_001354609.1:p.Gly476Ser
NM_001367681.1:c.1540G>A NP_001354610.1:p.Gly514Ser
NM_001367682.1:c.1774G>A NP_001354611.1:p.Gly592Ser
NM_001367683.1:c.1576G>A NP_001354612.1:p.Gly526Ser
NM_001367684.1:c.1651G>A NP_001354613.1:p.Gly551Ser
NM_001367685.1:c.1603G>A NP_001354614.1:p.Gly535Ser
NM_001367686.1:c.1324G>A NP_001354615.1:p.Gly442Ser
NM_001367688.1:c.1573G>A NP_001354617.1:p.Gly525Ser
NM_001367689.1:c.1453G>A NP_001354618.1:p.Gly485Ser
NM_001367690.1:c.1783G>A NP_001354619.1:p.Gly595Ser
NM_001367691.1:c.1732G>A NP_001354620.1:p.Gly578Ser
NM_001367692.1:c.1801G>A NP_001354621.1:p.Gly601Ser
NM_001367693.1:c.1687G>A NP_001354622.1:p.Gly563Ser
NM_001367694.1:c.1489G>A NP_001354623.1:p.Gly497Ser
NM_001367695.1:c.1414G>A NP_001354624.1:p.Gly472Ser
NM_001367696.1:c.1570G>A NP_001354625.1:p.Gly524Ser
NM_001367697.1:c.1687G>A NP_001354626.1:p.Gly563Ser
NM_001367698.1:c.1771G>A NP_001354627.1:p.Gly591Ser
NM_001367699.1:c.1882G>A NP_001354628.1:p.Gly628Ser
NM_001367700.1:c.1702G>A NP_001354629.1:p.Gly568Ser
NM_001367701.1:c.1393G>A NP_001354630.1:p.Gly465Ser
NM_001367702.1:c.1504G>A NP_001354631.1:p.Gly502Ser
NM_001367703.1:c.1885G>A NP_001354632.1:p.Gly629Ser
NM_001367704.1:c.1504G>A NP_001354633.1:p.Gly502Ser
NM_001367705.1:c.1885G>A NP_001354634.1:p.Gly629Ser
NM_001367706.1:c.1624G>A NP_001354635.1:p.Gly542Ser
NM_001367707.1:c.1621G>A NP_001354636.1:p.Gly541Ser
NM_001367708.1:c.925G>A NP_001354637.1:p.Gly309Ser
NM_025154.5:c.1243G>A NP_079430.3:p.Gly415Ser
NM_025154.6:c.1243G>A NP_079430.3:p.Gly415Ser
NR_160281.1:n.1510G>A
NR_160282.1:n.1903G>A
NR_160283.1:n.1644G>A
ENST00000389574.7:c.1243G>A ENSP00000374225.3:p.Gly415Ser
ENST00000401592.5:c.1492G>A ENSP00000384015.1:p.Gly498Ser
ENST00000405266.5:c.1603G>A ENSP00000384116.1:p.Gly535Ser
ENST00000413171.6:n.2051G>A
ENST00000425407.6:c.1243G>A ENSP00000392309.2:p.Gly415Ser
ENST00000429178.5:c.1267G>A ENSP00000409909.1:p.Gly423Ser
ENST00000433212.5:c.1037G>A
ENST00000452783.6:c.1183G>A ENSP00000413439.2:p.Gly395Ser
ENST00000457861.1:c.645G>A
ENST00000475971.5:n.1601G>A