Canonical Allele Identifier: CA4112429
Community Standard Title: NM_001130965.3(SUN1):c.1921A>G (p.Met641Val)
Gene: SUN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.866008A>G , CM000669.2:g.866008A>G GRCh38
NC_000007.13:g.905645A>G , CM000669.1:g.905645A>G GRCh37
NC_000007.12:g.872171A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001130965.3:c.1921A>G MANE Select NP_001124437.1:p.Met641Val
ENST00000401592.6:c.1921A>G MANE Select ENSP00000384015.1:p.Met641Val
NM_001130965.2:c.1921A>G NP_001124437.1:p.Met641Val
NM_001171944.1:c.1612A>G NP_001165415.1:p.Met538Val
NM_001171944.2:c.1612A>G NP_001165415.1:p.Met538Val
NM_001367633.1:c.1921A>G NP_001354562.1:p.Met641Val
NM_001367634.1:c.1921A>G NP_001354563.1:p.Met641Val
NM_001367635.1:c.1570A>G NP_001354564.1:p.Met524Val
NM_001367636.1:c.2161A>G NP_001354565.1:p.Met721Val
NM_001367638.1:c.2029A>G NP_001354567.1:p.Met677Val
NM_001367639.1:c.1462A>G NP_001354568.1:p.Met488Val
NM_001367640.1:c.2101A>G NP_001354569.1:p.Met701Val
NM_001367641.1:c.2203A>G NP_001354570.1:p.Met735Val
NM_001367642.1:c.1906A>G NP_001354571.1:p.Met636Val
NM_001367643.1:c.2113A>G NP_001354572.1:p.Met705Val
NM_001367644.1:c.1852A>G NP_001354573.1:p.Met618Val
NM_001367645.1:c.1969A>G NP_001354574.1:p.Met657Val
NM_001367646.1:c.2050A>G NP_001354575.1:p.Met684Val
NM_001367647.1:c.1963A>G NP_001354576.1:p.Met655Val
NM_001367648.1:c.1783A>G NP_001354577.1:p.Met595Val
NM_001367649.1:c.1966A>G NP_001354578.1:p.Met656Val
NM_001367651.1:c.2335A>G NP_001354580.1:p.Met779Val
NM_001367653.1:c.1921A>G NP_001354582.1:p.Met641Val
NM_001367655.1:c.2131A>G NP_001354584.1:p.Met711Val
NM_001367658.1:c.1207A>G NP_001354587.1:p.Met403Val
NM_001367660.1:c.1738A>G NP_001354589.1:p.Met580Val
NM_001367662.1:c.1768A>G NP_001354591.1:p.Met590Val
NM_001367664.1:c.2032A>G NP_001354593.1:p.Met678Val
NM_001367665.1:c.1918A>G NP_001354594.1:p.Met640Val
NM_001367666.1:c.2164A>G NP_001354595.1:p.Met722Val
NM_001367667.1:c.1882A>G NP_001354596.1:p.Met628Val
NM_001367668.1:c.1963A>G NP_001354597.1:p.Met655Val
NM_001367669.1:c.1948A>G NP_001354598.1:p.Met650Val
NM_001367670.1:c.1771A>G NP_001354599.1:p.Met591Val
NM_001367671.1:c.1768A>G NP_001354600.1:p.Met590Val
NM_001367672.1:c.1888A>G NP_001354601.1:p.Met630Val
NM_001367673.1:c.2053A>G NP_001354602.1:p.Met685Val
NM_001367674.1:c.2119A>G NP_001354603.1:p.Met707Val
NM_001367675.1:c.2071A>G NP_001354604.1:p.Met691Val
NM_001367676.1:c.2104A>G NP_001354605.1:p.Met702Val
NM_001367677.1:c.2227A>G NP_001354606.1:p.Met743Val
NM_001367678.1:c.2311A>G NP_001354607.1:p.Met771Val
NM_001367679.1:c.1879A>G NP_001354608.1:p.Met627Val
NM_001367680.1:c.1855A>G NP_001354609.1:p.Met619Val
NM_001367681.1:c.1969A>G NP_001354610.1:p.Met657Val
NM_001367682.1:c.2203A>G NP_001354611.1:p.Met735Val
NM_001367683.1:c.2005A>G NP_001354612.1:p.Met669Val
NM_001367684.1:c.2080A>G NP_001354613.1:p.Met694Val
NM_001367685.1:c.2032A>G NP_001354614.1:p.Met678Val
NM_001367686.1:c.1753A>G NP_001354615.1:p.Met585Val
NM_001367688.1:c.2002A>G NP_001354617.1:p.Met668Val
NM_001367689.1:c.1882A>G NP_001354618.1:p.Met628Val
NM_001367690.1:c.2212A>G NP_001354619.1:p.Met738Val
NM_001367691.1:c.2161A>G NP_001354620.1:p.Met721Val
NM_001367692.1:c.2230A>G NP_001354621.1:p.Met744Val
NM_001367693.1:c.2116A>G NP_001354622.1:p.Met706Val
NM_001367694.1:c.1918A>G NP_001354623.1:p.Met640Val
NM_001367695.1:c.1843A>G NP_001354624.1:p.Met615Val
NM_001367696.1:c.1999A>G NP_001354625.1:p.Met667Val
NM_001367697.1:c.2116A>G NP_001354626.1:p.Met706Val
NM_001367698.1:c.2200A>G NP_001354627.1:p.Met734Val
NM_001367699.1:c.2311A>G NP_001354628.1:p.Met771Val
NM_001367700.1:c.2131A>G NP_001354629.1:p.Met711Val
NM_001367701.1:c.1822A>G NP_001354630.1:p.Met608Val
NM_001367702.1:c.1933A>G NP_001354631.1:p.Met645Val
NM_001367703.1:c.2314A>G NP_001354632.1:p.Met772Val
NM_001367704.1:c.1933A>G NP_001354633.1:p.Met645Val
NM_001367705.1:c.2314A>G NP_001354634.1:p.Met772Val
NM_001367706.1:c.2053A>G NP_001354635.1:p.Met685Val
NM_001367707.1:c.2050A>G NP_001354636.1:p.Met684Val
NM_001367708.1:c.1354A>G NP_001354637.1:p.Met452Val
NM_025154.5:c.1672A>G NP_079430.3:p.Met558Val
NM_025154.6:c.1672A>G NP_079430.3:p.Met558Val
NR_160281.1:n.1969A>G
NR_160282.1:n.2332A>G
NR_160283.1:n.2073A>G
ENST00000389574.7:c.1672A>G ENSP00000374225.3:p.Met558Val
ENST00000401592.5:c.1921A>G ENSP00000384015.1:p.Met641Val
ENST00000405266.5:c.2032A>G ENSP00000384116.1:p.Met678Val
ENST00000413171.6:n.2480A>G
ENST00000425407.6:c.1672A>G ENSP00000392309.2:p.Met558Val
ENST00000429178.5:c.1696A>G ENSP00000409909.1:p.Met566Val
ENST00000433212.5:c.1466A>G
ENST00000452783.6:c.1612A>G ENSP00000413439.2:p.Met538Val
ENST00000457861.1:c.1074A>G
ENST00000475971.5:n.2030A>G