Canonical Allele Identifier: CA4112480
Community Standard Title: NM_001130965.3(SUN1):c.2068G>A (p.Ala690Thr)
Gene: SUN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.869436G>A , CM000669.2:g.869436G>A GRCh38
NC_000007.13:g.909073G>A , CM000669.1:g.909073G>A GRCh37
NC_000007.12:g.875599G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001130965.3:c.2068G>A MANE Select NP_001124437.1:p.Ala690Thr
ENST00000401592.6:c.2068G>A MANE Select ENSP00000384015.1:p.Ala690Thr
NM_001130965.2:c.2068G>A NP_001124437.1:p.Ala690Thr
NM_001171944.1:c.1759G>A NP_001165415.1:p.Ala587Thr
NM_001171944.2:c.1759G>A NP_001165415.1:p.Ala587Thr
NM_001367633.1:c.2068G>A NP_001354562.1:p.Ala690Thr
NM_001367634.1:c.2068G>A NP_001354563.1:p.Ala690Thr
NM_001367635.1:c.1717G>A NP_001354564.1:p.Ala573Thr
NM_001367636.1:c.2308G>A NP_001354565.1:p.Ala770Thr
NM_001367638.1:c.2176G>A NP_001354567.1:p.Ala726Thr
NM_001367639.1:c.1609G>A NP_001354568.1:p.Ala537Thr
NM_001367640.1:c.2248G>A NP_001354569.1:p.Ala750Thr
NM_001367641.1:c.2350G>A NP_001354570.1:p.Ala784Thr
NM_001367642.1:c.2053G>A NP_001354571.1:p.Ala685Thr
NM_001367643.1:c.2260G>A NP_001354572.1:p.Ala754Thr
NM_001367644.1:c.1999G>A NP_001354573.1:p.Ala667Thr
NM_001367645.1:c.2116G>A NP_001354574.1:p.Ala706Thr
NM_001367646.1:c.2197G>A NP_001354575.1:p.Ala733Thr
NM_001367647.1:c.2110G>A NP_001354576.1:p.Ala704Thr
NM_001367648.1:c.1930G>A NP_001354577.1:p.Ala644Thr
NM_001367649.1:c.2113G>A NP_001354578.1:p.Ala705Thr
NM_001367651.1:c.2482G>A NP_001354580.1:p.Ala828Thr
NM_001367653.1:c.2068G>A NP_001354582.1:p.Ala690Thr
NM_001367655.1:c.2278G>A NP_001354584.1:p.Ala760Thr
NM_001367658.1:c.1354G>A NP_001354587.1:p.Ala452Thr
NM_001367660.1:c.1885G>A NP_001354589.1:p.Ala629Thr
NM_001367662.1:c.1915G>A NP_001354591.1:p.Ala639Thr
NM_001367664.1:c.2179G>A NP_001354593.1:p.Ala727Thr
NM_001367665.1:c.2065G>A NP_001354594.1:p.Ala689Thr
NM_001367666.1:c.2311G>A NP_001354595.1:p.Ala771Thr
NM_001367667.1:c.2029G>A NP_001354596.1:p.Ala677Thr
NM_001367668.1:c.2110G>A NP_001354597.1:p.Ala704Thr
NM_001367669.1:c.2095G>A NP_001354598.1:p.Ala699Thr
NM_001367670.1:c.1918G>A NP_001354599.1:p.Ala640Thr
NM_001367671.1:c.1915G>A NP_001354600.1:p.Ala639Thr
NM_001367672.1:c.2035G>A NP_001354601.1:p.Ala679Thr
NM_001367673.1:c.2200G>A NP_001354602.1:p.Ala734Thr
NM_001367674.1:c.2266G>A NP_001354603.1:p.Ala756Thr
NM_001367675.1:c.2218G>A NP_001354604.1:p.Ala740Thr
NM_001367676.1:c.2251G>A NP_001354605.1:p.Ala751Thr
NM_001367677.1:c.2374G>A NP_001354606.1:p.Ala792Thr
NM_001367678.1:c.2458G>A NP_001354607.1:p.Ala820Thr
NM_001367679.1:c.2026G>A NP_001354608.1:p.Ala676Thr
NM_001367680.1:c.2002G>A NP_001354609.1:p.Ala668Thr
NM_001367681.1:c.2116G>A NP_001354610.1:p.Ala706Thr
NM_001367682.1:c.2350G>A NP_001354611.1:p.Ala784Thr
NM_001367683.1:c.2152G>A NP_001354612.1:p.Ala718Thr
NM_001367684.1:c.2227G>A NP_001354613.1:p.Ala743Thr
NM_001367685.1:c.2179G>A NP_001354614.1:p.Ala727Thr
NM_001367686.1:c.1900G>A NP_001354615.1:p.Ala634Thr
NM_001367688.1:c.2149G>A NP_001354617.1:p.Ala717Thr
NM_001367689.1:c.2029G>A NP_001354618.1:p.Ala677Thr
NM_001367690.1:c.2359G>A NP_001354619.1:p.Ala787Thr
NM_001367691.1:c.2308G>A NP_001354620.1:p.Ala770Thr
NM_001367692.1:c.2377G>A NP_001354621.1:p.Ala793Thr
NM_001367693.1:c.2263G>A NP_001354622.1:p.Ala755Thr
NM_001367694.1:c.2065G>A NP_001354623.1:p.Ala689Thr
NM_001367695.1:c.1990G>A NP_001354624.1:p.Ala664Thr
NM_001367696.1:c.2146G>A NP_001354625.1:p.Ala716Thr
NM_001367697.1:c.2263G>A NP_001354626.1:p.Ala755Thr
NM_001367698.1:c.2347G>A NP_001354627.1:p.Ala783Thr
NM_001367699.1:c.2458G>A NP_001354628.1:p.Ala820Thr
NM_001367700.1:c.2278G>A NP_001354629.1:p.Ala760Thr
NM_001367701.1:c.1969G>A NP_001354630.1:p.Ala657Thr
NM_001367702.1:c.2080G>A NP_001354631.1:p.Ala694Thr
NM_001367703.1:c.2461G>A NP_001354632.1:p.Ala821Thr
NM_001367704.1:c.2080G>A NP_001354633.1:p.Ala694Thr
NM_001367705.1:c.2461G>A NP_001354634.1:p.Ala821Thr
NM_001367706.1:c.2200G>A NP_001354635.1:p.Ala734Thr
NM_001367707.1:c.2197G>A NP_001354636.1:p.Ala733Thr
NM_001367708.1:c.1501G>A NP_001354637.1:p.Ala501Thr
NM_025154.5:c.1819G>A NP_079430.3:p.Ala607Thr
NM_025154.6:c.1819G>A NP_079430.3:p.Ala607Thr
NR_160281.1:n.2116G>A
NR_160282.1:n.2442G>A
NR_160283.1:n.2220G>A
ENST00000389574.7:c.1819G>A ENSP00000374225.3:p.Ala607Thr
ENST00000401592.5:c.2068G>A ENSP00000384015.1:p.Ala690Thr
ENST00000405266.5:c.2179G>A ENSP00000384116.1:p.Ala727Thr
ENST00000413171.6:n.2627G>A
ENST00000425407.6:c.1819G>A ENSP00000392309.2:p.Ala607Thr
ENST00000429178.5:c.1843G>A ENSP00000409909.1:p.Ala615Thr
ENST00000433212.5:c.1613G>A
ENST00000452783.6:c.1759G>A ENSP00000413439.2:p.Ala587Thr
ENST00000457861.1:c.1133+3369G>A
ENST00000475971.5:n.2177G>A
ENST00000497943.1:n.963G>A