Canonical Allele Identifier: CA1673206397

Gene: SYNE1

Linked Data

• dbSNP Id: rs2058218270

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140123_152140129dup , CM000668.2:g.152140123_152140129dup	GRCh38
NC_000006.11:g.152461258_152461264dup , CM000668.1:g.152461258_152461264dup	GRCh37
NC_000006.10:g.152502951_152502957dup	NCBI36
NG_012855.1:g.502271_502277dup
NG_012855.2:g.502271_502277dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1813_1819dup MANE Plus Clinical	ENSP00000346701.4:p.Leu607SerfsTer20
ENST00000367255.10:c.25279_25285dup MANE Select	ENSP00000356224.5:p.Leu8429SerfsTer20
ENST00000423061.6:c.25135_25141dup	ENSP00000396024.1:p.Leu8381SerfsTer20
ENST00000672154.1:c.681_687dup
ENST00000672169.1:c.1014_1020dup
ENST00000673173.1:c.923_929dup
ENST00000673451.1:c.1051_1057dup	ENSP00000500189.1:p.Leu353SerfsTer20
ENST00000341594.9:c.24064_24070dup	ENSP00000341887.6:p.Leu8024SerfsTer20
ENST00000347037.9:n.2027_2033dup
ENST00000354674.4:c.1813_1819dup	ENSP00000346701.4:p.Leu607SerfsTer20
ENST00000367251.7:c.4114_4120dup	ENSP00000356220.3:p.Leu1374SerfsTer20
ENST00000367255.9:c.25279_25285dup	ENSP00000356224.5:p.Leu8429SerfsTer20
ENST00000367256.9:n.8971_8977dup
ENST00000367257.8:c.3217_3223dup	ENSP00000356226.4:p.Leu1075SerfsTer20
ENST00000409694.6:n.8863_8869dup
ENST00000423061.5:c.25135_25141dup	ENSP00000396024.1:p.Leu8381SerfsTer20
ENST00000460912.6:n.1893_1899dup
ENST00000478916.5:n.4301_4307dup
ENST00000536990.5:n.2116_2122dup
ENST00000539504.5:c.1744_1750dup	ENSP00000441052.1:p.Leu584SerfsTer20
NM_033071.3:c.25135_25141dup	NP_149062.1:p.Leu8381SerfsTer20
NM_182961.3:c.25279_25285dup	NP_892006.3:p.Leu8429SerfsTer20
XM_006715407.1:c.25384_25390dup	XP_006715470.1:p.Leu8464SerfsTer20
XM_006715408.1:c.25372_25378dup	XP_006715471.1:p.Leu8460SerfsTer20
XM_006715409.1:c.25363_25369dup	XP_006715472.1:p.Leu8457SerfsTer20
XM_006715410.1:c.25384_25390dup	XP_006715473.1:p.Leu8464SerfsTer20
XM_006715411.1:c.25333_25339dup	XP_006715474.1:p.Leu8447SerfsTer20
XM_006715412.1:c.25369_25375dup	XP_006715475.1:p.Leu8459SerfsTer20
XM_006715413.1:c.25315_25321dup	XP_006715476.1:p.Leu8441SerfsTer20
XM_006715414.1:c.25312_25318dup	XP_006715477.1:p.Leu8440SerfsTer20
XM_006715415.1:c.25315_25321dup	XP_006715478.1:p.Leu8441SerfsTer20
XM_006715416.1:c.25300_25306dup	XP_006715479.1:p.Leu8436SerfsTer20
XM_006715417.1:c.25243_25249dup	XP_006715480.1:p.Leu8417SerfsTer20
XM_006715420.1:c.25231_25237dup	XP_006715483.1:p.Leu8413SerfsTer20
XM_006715421.1:c.25228_25234dup	XP_006715484.1:p.Leu8412SerfsTer20
XM_006715422.1:c.25225_25231dup	XP_006715485.1:p.Leu8411SerfsTer20
XM_006715423.1:c.25384_25390dup	XP_006715486.1:p.Leu8464SerfsTer20
XM_006715424.1:c.25384_25390dup	XP_006715487.1:p.Leu8464SerfsTer20
XM_006715425.1:c.25315_25321dup	XP_006715488.1:p.Leu8441SerfsTer20
XM_011535641.1:c.25381_25387dup	XP_011533943.1:p.Leu8463SerfsTer20
XM_011535642.1:c.25369_25375dup	XP_011533944.1:p.Leu8459SerfsTer20
XM_011535643.1:c.25219_25225dup	XP_011533945.1:p.Leu8409SerfsTer20
XM_011535644.1:c.23659_23665dup	XP_011533946.1:p.Leu7889SerfsTer20
XM_011535645.1:c.23152_23158dup	XP_011533947.1:p.Leu7720SerfsTer20
XM_011535647.1:c.18619_18625dup	XP_011533949.1:p.Leu6209SerfsTer20
NM_001347701.1:c.1885_1891dup	NP_001334630.1:p.Leu631SerfsTer20
NM_001347702.1:c.1813_1819dup	NP_001334631.1:p.Leu607SerfsTer20
XM_006715408.2:c.25372_25378dup	XP_006715471.1:p.Leu8460SerfsTer20
XM_006715410.2:c.25384_25390dup	XP_006715473.1:p.Leu8464SerfsTer20
XM_006715412.2:c.25369_25375dup	XP_006715475.1:p.Leu8459SerfsTer20
XM_006715413.2:c.25315_25321dup	XP_006715476.1:p.Leu8441SerfsTer20
XM_006715415.2:c.25315_25321dup	XP_006715478.1:p.Leu8441SerfsTer20
XM_006715416.2:c.25300_25306dup	XP_006715479.1:p.Leu8436SerfsTer20
XM_006715417.2:c.25243_25249dup	XP_006715480.1:p.Leu8417SerfsTer20
XM_006715420.2:c.25231_25237dup	XP_006715483.1:p.Leu8413SerfsTer20
XM_006715421.2:c.25228_25234dup	XP_006715484.1:p.Leu8412SerfsTer20
XM_006715423.2:c.25384_25390dup	XP_006715486.1:p.Leu8464SerfsTer20
XM_006715424.2:c.25384_25390dup	XP_006715487.1:p.Leu8464SerfsTer20
XM_006715425.2:c.25315_25321dup	XP_006715488.1:p.Leu8441SerfsTer20
XM_011535641.2:c.25381_25387dup	XP_011533943.1:p.Leu8463SerfsTer20
XM_011535642.2:c.25369_25375dup	XP_011533944.1:p.Leu8459SerfsTer20
XM_011535645.2:c.23152_23158dup	XP_011533947.1:p.Leu7720SerfsTer20
XM_017010608.1:c.25384_25390dup	XP_016866097.1:p.Leu8464SerfsTer20
XM_017010609.1:c.25384_25390dup	XP_016866098.1:p.Leu8464SerfsTer20
XM_017010610.1:c.25363_25369dup	XP_016866099.1:p.Leu8457SerfsTer20
XM_017010611.2:c.25357_25363dup	XP_016866100.1:p.Leu8455SerfsTer20
XM_017010612.1:c.25306_25312dup	XP_016866101.1:p.Leu8438SerfsTer20
XM_017010613.1:c.25312_25318dup	XP_016866102.1:p.Leu8440SerfsTer20
XM_017010614.1:c.25228_25234dup	XP_016866103.1:p.Leu8412SerfsTer20
XM_017010615.1:c.25159_25165dup	XP_016866104.1:p.Leu8389SerfsTer20
XM_017010616.1:c.25315_25321dup	XP_016866105.1:p.Leu8441SerfsTer20
XM_017010617.1:c.25312_25318dup	XP_016866106.1:p.Leu8440SerfsTer20
XM_017010618.1:c.25300_25306dup	XP_016866107.1:p.Leu8436SerfsTer20
XM_017010619.1:c.23659_23665dup	XP_016866108.1:p.Leu7889SerfsTer20
NM_182961.4:c.25279_25285dup MANE Select	NP_892006.3:p.Leu8429SerfsTer20
NM_001347701.2:c.1885_1891dup	NP_001334630.1:p.Leu631SerfsTer20
NM_001347702.2:c.1813_1819dup MANE Plus Clinical	NP_001334631.1:p.Leu607SerfsTer20
NM_033071.5:c.25135_25141dup	NP_149062.2:p.Leu8381SerfsTer20