Canonical Allele Identifier: CA4111893
Community Standard Title: NM_001130965.3(SUN1):c.720G>A (p.Thr240=)
Gene: SUN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.851445G>A , CM000669.2:g.851445G>A GRCh38
NC_000007.13:g.891082G>A , CM000669.1:g.891082G>A GRCh37
NC_000007.12:g.857608G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001130965.3:c.720G>A MANE Select NP_001124437.1:p.Thr240=
ENST00000401592.6:c.720G>A MANE Select ENSP00000384015.1:p.Thr240=
NM_001130965.2:c.720G>A NP_001124437.1:p.Thr240=
NM_001171944.1:c.452-505G>A NP_001165415.1:n.452-505G>A
NM_001171944.2:c.452-505G>A NP_001165415.1:n.452-505G>A
NM_001367633.1:c.720G>A NP_001354562.1:p.Thr240=
NM_001367634.1:c.720G>A NP_001354563.1:p.Thr240=
NM_001367635.1:c.374G>A NP_001354564.1:p.Arg125Gln
NM_001367636.1:c.963G>A NP_001354565.1:p.Thr321=
NM_001367638.1:c.831G>A NP_001354567.1:p.Thr277=
NM_001367639.1:c.264G>A NP_001354568.1:p.Thr88=
NM_001367640.1:c.941-505G>A NP_001354569.1:n.941-505G>A
NM_001367641.1:c.1002G>A NP_001354570.1:p.Thr334=
NM_001367642.1:c.743-505G>A NP_001354571.1:n.743-505G>A
NM_001367643.1:c.915G>A NP_001354572.1:p.Thr305=
NM_001367644.1:c.654G>A NP_001354573.1:p.Thr218=
NM_001367645.1:c.681G>A NP_001354574.1:p.Thr227=
NM_001367646.1:c.852G>A NP_001354575.1:p.Thr284=
NM_001367647.1:c.765G>A NP_001354576.1:p.Thr255=
NM_001367648.1:c.620-505G>A NP_001354577.1:n.620-505G>A
NM_001367649.1:c.765G>A NP_001354578.1:p.Thr255=
NM_001367651.1:c.1134G>A NP_001354580.1:p.Thr378=
NM_001367653.1:c.720G>A NP_001354582.1:p.Thr240=
NM_001367655.1:c.963G>A NP_001354584.1:p.Thr321=
NM_001367658.1:c.70G>A NP_001354587.1:p.Gly24Ser
NM_001367660.1:c.570G>A NP_001354589.1:p.Thr190=
NM_001367662.1:c.570G>A NP_001354591.1:p.Thr190=
NM_001367664.1:c.831G>A NP_001354593.1:p.Thr277=
NM_001367665.1:c.720G>A NP_001354594.1:p.Thr240=
NM_001367666.1:c.963G>A NP_001354595.1:p.Thr321=
NM_001367667.1:c.681G>A NP_001354596.1:p.Thr227=
NM_001367668.1:c.765G>A NP_001354597.1:p.Thr255=
NM_001367669.1:c.747G>A NP_001354598.1:p.Thr249=
NM_001367670.1:c.570G>A NP_001354599.1:p.Thr190=
NM_001367671.1:c.570G>A NP_001354600.1:p.Thr190=
NM_001367672.1:c.720G>A NP_001354601.1:p.Thr240=
NM_001367673.1:c.852G>A NP_001354602.1:p.Thr284=
NM_001367674.1:c.918G>A NP_001354603.1:p.Thr306=
NM_001367675.1:c.941-505G>A NP_001354604.1:n.941-505G>A
NM_001367676.1:c.941-505G>A NP_001354605.1:n.941-505G>A
NM_001367677.1:c.1029G>A NP_001354606.1:p.Thr343=
NM_001367678.1:c.1113G>A NP_001354607.1:p.Thr371=
NM_001367679.1:c.681G>A NP_001354608.1:p.Thr227=
NM_001367680.1:c.654G>A NP_001354609.1:p.Thr218=
NM_001367681.1:c.768G>A NP_001354610.1:p.Thr256=
NM_001367682.1:c.1002G>A NP_001354611.1:p.Thr334=
NM_001367683.1:c.804G>A NP_001354612.1:p.Thr268=
NM_001367684.1:c.879G>A NP_001354613.1:p.Thr293=
NM_001367685.1:c.831G>A NP_001354614.1:p.Thr277=
NM_001367686.1:c.593-505G>A NP_001354615.1:n.593-505G>A
NM_001367687.1:c.1113G>A NP_001354616.1:p.Thr371=
NM_001367688.1:c.804G>A NP_001354617.1:p.Thr268=
NM_001367689.1:c.681G>A NP_001354618.1:p.Thr227=
NM_001367690.1:c.1052-505G>A NP_001354619.1:n.1052-505G>A
NM_001367691.1:c.963G>A NP_001354620.1:p.Thr321=
NM_001367692.1:c.1029G>A NP_001354621.1:p.Thr343=
NM_001367693.1:c.915G>A NP_001354622.1:p.Thr305=
NM_001367694.1:c.720G>A NP_001354623.1:p.Thr240=
NM_001367695.1:c.642G>A NP_001354624.1:p.Thr214=
NM_001367696.1:c.831G>A NP_001354625.1:p.Thr277=
NM_001367697.1:c.915G>A NP_001354626.1:p.Thr305=
NM_001367698.1:c.1002G>A NP_001354627.1:p.Thr334=
NM_001367699.1:c.1113G>A NP_001354628.1:p.Thr371=
NM_001367700.1:c.968-505G>A NP_001354629.1:n.968-505G>A
NM_001367701.1:c.654G>A NP_001354630.1:p.Thr218=
NM_001367702.1:c.770-505G>A NP_001354631.1:n.770-505G>A
NM_001367703.1:c.1113G>A NP_001354632.1:p.Thr371=
NM_001367704.1:c.770-505G>A NP_001354633.1:n.770-505G>A
NM_001367705.1:c.1113G>A NP_001354634.1:p.Thr371=
NM_001367706.1:c.852G>A NP_001354635.1:p.Thr284=
NM_001367707.1:c.852G>A NP_001354636.1:p.Thr284=
NM_001367708.1:c.153G>A NP_001354637.1:p.Thr51=
NM_025154.5:c.509-505G>A NP_079430.3:n.509-505G>A
NM_025154.6:c.509-505G>A NP_079430.3:n.509-505G>A
NR_160281.1:n.771G>A
NR_160282.1:n.1164G>A
NR_160283.1:n.872G>A
ENST00000389574.7:c.509-505G>A ENSP00000374225.3:n.509-505G>A
ENST00000401592.5:c.720G>A ENSP00000384015.1:p.Thr240=
ENST00000405266.5:c.831G>A ENSP00000384116.1:p.Thr277=
ENST00000413171.6:n.1137G>A
ENST00000419312.5:c.437G>A
ENST00000425407.6:c.509-505G>A ENSP00000392309.2:n.509-505G>A
ENST00000429178.5:c.495G>A ENSP00000409909.1:p.Thr165=
ENST00000433212.5:c.265G>A
ENST00000450881.5:c.377-505G>A ENSP00000392595.1:n.377-505G>A
ENST00000452783.6:c.452-505G>A ENSP00000413439.2:n.452-505G>A
ENST00000464442.5:n.295G>A
ENST00000480475.5:n.279G>A
ENST00000488628.1:n.279G>A