Canonical Allele Identifier: CA4111978

Gene: SUN1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.852657C>G , CM000669.2:g.852657C>G	GRCh38
NC_000007.13:g.892294C>G , CM000669.1:g.892294C>G	GRCh37
NC_000007.12:g.858820C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001130965.3:c.900C>G MANE Select	NP_001124437.1:p.Phe300Leu
ENST00000401592.6:c.900C>G MANE Select	ENSP00000384015.1:p.Phe300Leu
NM_001130965.2:c.900C>G	NP_001124437.1:p.Phe300Leu
NM_001171944.1:c.594C>G	NP_001165415.1:p.Phe198Leu
NM_001171944.2:c.594C>G	NP_001165415.1:p.Phe198Leu
NM_001367633.1:c.900C>G	NP_001354562.1:p.Phe300Leu
NM_001367634.1:c.900C>G	NP_001354563.1:p.Phe300Leu
NM_001367635.1:c.549C>G	NP_001354564.1:p.Phe183Leu
NM_001367636.1:c.1143C>G	NP_001354565.1:p.Phe381Leu
NM_001367638.1:c.1011C>G	NP_001354567.1:p.Phe337Leu
NM_001367639.1:c.444C>G	NP_001354568.1:p.Phe148Leu
NM_001367640.1:c.1083C>G	NP_001354569.1:p.Phe361Leu
NM_001367641.1:c.1182C>G	NP_001354570.1:p.Phe394Leu
NM_001367642.1:c.885C>G	NP_001354571.1:p.Phe295Leu
NM_001367643.1:c.1095C>G	NP_001354572.1:p.Phe365Leu
NM_001367644.1:c.834C>G	NP_001354573.1:p.Phe278Leu
NM_001367645.1:c.861C>G	NP_001354574.1:p.Phe287Leu
NM_001367646.1:c.1032C>G	NP_001354575.1:p.Phe344Leu
NM_001367647.1:c.945C>G	NP_001354576.1:p.Phe315Leu
NM_001367648.1:c.762C>G	NP_001354577.1:p.Phe254Leu
NM_001367649.1:c.945C>G	NP_001354578.1:p.Phe315Leu
NM_001367651.1:c.1314C>G	NP_001354580.1:p.Phe438Leu
NM_001367653.1:c.900C>G	NP_001354582.1:p.Phe300Leu
NM_001367655.1:c.1143C>G	NP_001354584.1:p.Phe381Leu
NM_001367658.1:c.250C>G	NP_001354587.1:p.Pro84Ala
NM_001367660.1:c.750C>G	NP_001354589.1:p.Phe250Leu
NM_001367662.1:c.750C>G	NP_001354591.1:p.Phe250Leu
NM_001367664.1:c.1011C>G	NP_001354593.1:p.Phe337Leu
NM_001367665.1:c.900C>G	NP_001354594.1:p.Phe300Leu
NM_001367666.1:c.1143C>G	NP_001354595.1:p.Phe381Leu
NM_001367667.1:c.861C>G	NP_001354596.1:p.Phe287Leu
NM_001367668.1:c.945C>G	NP_001354597.1:p.Phe315Leu
NM_001367669.1:c.927C>G	NP_001354598.1:p.Phe309Leu
NM_001367670.1:c.750C>G	NP_001354599.1:p.Phe250Leu
NM_001367671.1:c.750C>G	NP_001354600.1:p.Phe250Leu
NM_001367672.1:c.900C>G	NP_001354601.1:p.Phe300Leu
NM_001367673.1:c.1032C>G	NP_001354602.1:p.Phe344Leu
NM_001367674.1:c.1098C>G	NP_001354603.1:p.Phe366Leu
NM_001367675.1:c.1083C>G	NP_001354604.1:p.Phe361Leu
NM_001367676.1:c.1083C>G	NP_001354605.1:p.Phe361Leu
NM_001367677.1:c.1209C>G	NP_001354606.1:p.Phe403Leu
NM_001367678.1:c.1293C>G	NP_001354607.1:p.Phe431Leu
NM_001367679.1:c.861C>G	NP_001354608.1:p.Phe287Leu
NM_001367680.1:c.834C>G	NP_001354609.1:p.Phe278Leu
NM_001367681.1:c.948C>G	NP_001354610.1:p.Phe316Leu
NM_001367682.1:c.1182C>G	NP_001354611.1:p.Phe394Leu
NM_001367683.1:c.984C>G	NP_001354612.1:p.Phe328Leu
NM_001367684.1:c.1059C>G	NP_001354613.1:p.Phe353Leu
NM_001367685.1:c.1011C>G	NP_001354614.1:p.Phe337Leu
NM_001367686.1:c.735C>G	NP_001354615.1:p.Phe245Leu
NM_001367687.1:c.1293C>G	NP_001354616.1:p.Phe431Leu
NM_001367688.1:c.984C>G	NP_001354617.1:p.Phe328Leu
NM_001367689.1:c.861C>G	NP_001354618.1:p.Phe287Leu
NM_001367690.1:c.1194C>G	NP_001354619.1:p.Phe398Leu
NM_001367691.1:c.1143C>G	NP_001354620.1:p.Phe381Leu
NM_001367692.1:c.1209C>G	NP_001354621.1:p.Phe403Leu
NM_001367693.1:c.1095C>G	NP_001354622.1:p.Phe365Leu
NM_001367694.1:c.900C>G	NP_001354623.1:p.Phe300Leu
NM_001367695.1:c.822C>G	NP_001354624.1:p.Phe274Leu
NM_001367696.1:c.1011C>G	NP_001354625.1:p.Phe337Leu
NM_001367697.1:c.1095C>G	NP_001354626.1:p.Phe365Leu
NM_001367698.1:c.1182C>G	NP_001354627.1:p.Phe394Leu
NM_001367699.1:c.1293C>G	NP_001354628.1:p.Phe431Leu
NM_001367700.1:c.1110C>G	NP_001354629.1:p.Phe370Leu
NM_001367701.1:c.834C>G	NP_001354630.1:p.Phe278Leu
NM_001367702.1:c.912C>G	NP_001354631.1:p.Phe304Leu
NM_001367703.1:c.1293C>G	NP_001354632.1:p.Phe431Leu
NM_001367704.1:c.912C>G	NP_001354633.1:p.Phe304Leu
NM_001367705.1:c.1293C>G	NP_001354634.1:p.Phe431Leu
NM_001367706.1:c.1032C>G	NP_001354635.1:p.Phe344Leu
NM_001367707.1:c.1032C>G	NP_001354636.1:p.Phe344Leu
NM_001367708.1:c.333C>G	NP_001354637.1:p.Phe111Leu
NM_025154.5:c.651C>G	NP_079430.3:p.Phe217Leu
NM_025154.6:c.651C>G	NP_079430.3:p.Phe217Leu
NR_160281.1:n.951C>G
NR_160282.1:n.1344C>G
NR_160283.1:n.1052C>G
ENST00000389574.7:c.651C>G	ENSP00000374225.3:p.Phe217Leu
ENST00000401592.5:c.900C>G	ENSP00000384015.1:p.Phe300Leu
ENST00000405266.5:c.1011C>G	ENSP00000384116.1:p.Phe337Leu
ENST00000413171.6:n.1317C>G
ENST00000425407.6:c.651C>G	ENSP00000392309.2:p.Phe217Leu
ENST00000429178.5:c.675C>G	ENSP00000409909.1:p.Phe225Leu
ENST00000433212.5:c.445C>G
ENST00000452783.6:c.594C>G	ENSP00000413439.2:p.Phe198Leu
ENST00000457861.1:c.143C>G
ENST00000459810.1:n.466C>G
ENST00000463848.1:n.543C>G
ENST00000464442.5:n.475C>G
ENST00000475971.5:n.411C>G
ENST00000480475.5:n.459C>G
ENST00000488628.1:n.459C>G