Canonical Allele Identifier: CA366530347
Community Standard Title: NM_001130965.3(SUN1):c.943T>C (p.Phe315Leu)
Gene: SUN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.852842T>C , CM000669.2:g.852842T>C GRCh38
NC_000007.13:g.892479T>C , CM000669.1:g.892479T>C GRCh37
NC_000007.12:g.859005T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001130965.3:c.943T>C MANE Select NP_001124437.1:p.Phe315Leu
ENST00000401592.6:c.943T>C MANE Select ENSP00000384015.1:p.Phe315Leu
NM_001130965.2:c.943T>C NP_001124437.1:p.Phe315Leu
NM_001171944.1:c.634T>C NP_001165415.1:p.Phe212Leu
NM_001171944.2:c.634T>C NP_001165415.1:p.Phe212Leu
NM_001367633.1:c.943T>C NP_001354562.1:p.Phe315Leu
NM_001367634.1:c.943T>C NP_001354563.1:p.Phe315Leu
NM_001367635.1:c.592T>C NP_001354564.1:p.Phe198Leu
NM_001367636.1:c.1183T>C NP_001354565.1:p.Phe395Leu
NM_001367638.1:c.1051T>C NP_001354567.1:p.Phe351Leu
NM_001367639.1:c.484T>C NP_001354568.1:p.Phe162Leu
NM_001367640.1:c.1123T>C NP_001354569.1:p.Phe375Leu
NM_001367641.1:c.1225T>C NP_001354570.1:p.Phe409Leu
NM_001367642.1:c.928T>C NP_001354571.1:p.Phe310Leu
NM_001367643.1:c.1135T>C NP_001354572.1:p.Phe379Leu
NM_001367644.1:c.874T>C NP_001354573.1:p.Phe292Leu
NM_001367645.1:c.904T>C NP_001354574.1:p.Phe302Leu
NM_001367646.1:c.1072T>C NP_001354575.1:p.Phe358Leu
NM_001367647.1:c.985T>C NP_001354576.1:p.Phe329Leu
NM_001367648.1:c.805T>C NP_001354577.1:p.Phe269Leu
NM_001367649.1:c.988T>C NP_001354578.1:p.Phe330Leu
NM_001367651.1:c.1357T>C NP_001354580.1:p.Phe453Leu
NM_001367653.1:c.943T>C NP_001354582.1:p.Phe315Leu
NM_001367655.1:c.1186T>C NP_001354584.1:p.Phe396Leu
NM_001367658.1:c.261-32T>C NP_001354587.1:n.261-32T>C
NM_001367660.1:c.793T>C NP_001354589.1:p.Phe265Leu
NM_001367662.1:c.790T>C NP_001354591.1:p.Phe264Leu
NM_001367664.1:c.1054T>C NP_001354593.1:p.Phe352Leu
NM_001367665.1:c.940T>C NP_001354594.1:p.Phe314Leu
NM_001367666.1:c.1186T>C NP_001354595.1:p.Phe396Leu
NM_001367667.1:c.904T>C NP_001354596.1:p.Phe302Leu
NM_001367668.1:c.985T>C NP_001354597.1:p.Phe329Leu
NM_001367669.1:c.970T>C NP_001354598.1:p.Phe324Leu
NM_001367670.1:c.793T>C NP_001354599.1:p.Phe265Leu
NM_001367671.1:c.790T>C NP_001354600.1:p.Phe264Leu
NM_001367672.1:c.943T>C NP_001354601.1:p.Phe315Leu
NM_001367673.1:c.1075T>C NP_001354602.1:p.Phe359Leu
NM_001367674.1:c.1141T>C NP_001354603.1:p.Phe381Leu
NM_001367675.1:c.1126T>C NP_001354604.1:p.Phe376Leu
NM_001367676.1:c.1126T>C NP_001354605.1:p.Phe376Leu
NM_001367677.1:c.1249T>C NP_001354606.1:p.Phe417Leu
NM_001367678.1:c.1333T>C NP_001354607.1:p.Phe445Leu
NM_001367679.1:c.901T>C NP_001354608.1:p.Phe301Leu
NM_001367680.1:c.877T>C NP_001354609.1:p.Phe293Leu
NM_001367681.1:c.991T>C NP_001354610.1:p.Phe331Leu
NM_001367682.1:c.1225T>C NP_001354611.1:p.Phe409Leu
NM_001367683.1:c.1027T>C NP_001354612.1:p.Phe343Leu
NM_001367684.1:c.1102T>C NP_001354613.1:p.Phe368Leu
NM_001367685.1:c.1054T>C NP_001354614.1:p.Phe352Leu
NM_001367686.1:c.775T>C NP_001354615.1:p.Phe259Leu
NM_001367687.1:c.1333T>C NP_001354616.1:p.Phe445Leu
NM_001367688.1:c.1024T>C NP_001354617.1:p.Phe342Leu
NM_001367689.1:c.904T>C NP_001354618.1:p.Phe302Leu
NM_001367690.1:c.1234T>C NP_001354619.1:p.Phe412Leu
NM_001367691.1:c.1183T>C NP_001354620.1:p.Phe395Leu
NM_001367692.1:c.1252T>C NP_001354621.1:p.Phe418Leu
NM_001367693.1:c.1138T>C NP_001354622.1:p.Phe380Leu
NM_001367694.1:c.940T>C NP_001354623.1:p.Phe314Leu
NM_001367695.1:c.865T>C NP_001354624.1:p.Phe289Leu
NM_001367696.1:c.1054T>C NP_001354625.1:p.Phe352Leu
NM_001367697.1:c.1138T>C NP_001354626.1:p.Phe380Leu
NM_001367698.1:c.1222T>C NP_001354627.1:p.Phe408Leu
NM_001367699.1:c.1333T>C NP_001354628.1:p.Phe445Leu
NM_001367700.1:c.1153T>C NP_001354629.1:p.Phe385Leu
NM_001367701.1:c.877T>C NP_001354630.1:p.Phe293Leu
NM_001367702.1:c.955T>C NP_001354631.1:p.Phe319Leu
NM_001367703.1:c.1336T>C NP_001354632.1:p.Phe446Leu
NM_001367704.1:c.955T>C NP_001354633.1:p.Phe319Leu
NM_001367705.1:c.1336T>C NP_001354634.1:p.Phe446Leu
NM_001367706.1:c.1075T>C NP_001354635.1:p.Phe359Leu
NM_001367707.1:c.1072T>C NP_001354636.1:p.Phe358Leu
NM_001367708.1:c.376T>C NP_001354637.1:p.Phe126Leu
NM_025154.5:c.694T>C NP_079430.3:p.Phe232Leu
NM_025154.6:c.694T>C NP_079430.3:p.Phe232Leu
NR_160281.1:n.994T>C
NR_160282.1:n.1387T>C
NR_160283.1:n.1095T>C
ENST00000389574.7:c.694T>C ENSP00000374225.3:p.Phe232Leu
ENST00000401592.5:c.943T>C ENSP00000384015.1:p.Phe315Leu
ENST00000405266.5:c.1054T>C ENSP00000384116.1:p.Phe352Leu
ENST00000413171.6:n.1502T>C
ENST00000425407.6:c.694T>C ENSP00000392309.2:p.Phe232Leu
ENST00000429178.5:c.718T>C ENSP00000409909.1:p.Phe240Leu
ENST00000433212.5:c.488T>C
ENST00000452783.6:c.634T>C ENSP00000413439.2:p.Phe212Leu
ENST00000457861.1:c.183T>C
ENST00000459810.1:n.509T>C
ENST00000464442.5:n.515T>C
ENST00000475971.5:n.596T>C
ENST00000480475.5:n.644T>C