Canonical Allele Identifier: CA2573140658
Gene: SYNE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1661764
ClinVar RCV Id: RCV002193240
dbSNP Id: rs2152800859

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152140177_152140178dup , CM000668.2:g.152140177_152140178dup GRCh38
NC_000006.11:g.152461312_152461313dup , CM000668.1:g.152461312_152461313dup GRCh37
NC_000006.10:g.152503005_152503006dup NCBI36
NG_012855.1:g.502223_502224dup
NG_012855.2:g.502223_502224dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.1781-16_1781-15dup MANE Plus Clinical ENSP00000346701.4:n.1781-16_1781-15dup
ENST00000367255.10:c.25247-16_25247-15dup MANE Select ENSP00000356224.5:n.25247-16_25247-15dup
ENST00000423061.6:c.25103-16_25103-15dup ENSP00000396024.1:n.25103-16_25103-15dup
ENST00000672154.1:c.649-16_649-15dup
ENST00000672169.1:c.982-16_982-15dup
ENST00000673173.1:c.891-16_891-15dup
ENST00000673451.1:c.1019-16_1019-15dup ENSP00000500189.1:n.1019-16_1019-15dup
ENST00000341594.9:c.24032-16_24032-15dup ENSP00000341887.6:n.24032-16_24032-15dup
ENST00000347037.9:n.1995-16_1995-15dup
ENST00000354674.4:c.1781-16_1781-15dup ENSP00000346701.4:n.1781-16_1781-15dup
ENST00000367251.7:c.4082-16_4082-15dup ENSP00000356220.3:n.4082-16_4082-15dup
ENST00000367255.9:c.25247-16_25247-15dup ENSP00000356224.5:n.25247-16_25247-15dup
ENST00000367256.9:n.8939-16_8939-15dup
ENST00000367257.8:c.3185-16_3185-15dup ENSP00000356226.4:n.3185-16_3185-15dup
ENST00000409694.6:n.8831-16_8831-15dup
ENST00000423061.5:c.25103-16_25103-15dup ENSP00000396024.1:n.25103-16_25103-15dup
ENST00000460912.6:n.1861-16_1861-15dup
ENST00000478916.5:n.4269-16_4269-15dup
ENST00000536990.5:n.2084-16_2084-15dup
ENST00000539504.5:c.1712-16_1712-15dup ENSP00000441052.1:n.1712-16_1712-15dup
NM_033071.3:c.25103-16_25103-15dup NP_149062.1:n.25103-16_25103-15dup
NM_182961.3:c.25247-16_25247-15dup NP_892006.3:n.25247-16_25247-15dup
XM_006715407.1:c.25352-16_25352-15dup XP_006715470.1:n.25352-16_25352-15dup
XM_006715408.1:c.25340-16_25340-15dup XP_006715471.1:n.25340-16_25340-15dup
XM_006715409.1:c.25331-16_25331-15dup XP_006715472.1:n.25331-16_25331-15dup
XM_006715410.1:c.25352-16_25352-15dup XP_006715473.1:n.25352-16_25352-15dup
XM_006715411.1:c.25301-16_25301-15dup XP_006715474.1:n.25301-16_25301-15dup
XM_006715412.1:c.25337-16_25337-15dup XP_006715475.1:n.25337-16_25337-15dup
XM_006715413.1:c.25283-16_25283-15dup XP_006715476.1:n.25283-16_25283-15dup
XM_006715414.1:c.25280-16_25280-15dup XP_006715477.1:n.25280-16_25280-15dup
XM_006715415.1:c.25283-16_25283-15dup XP_006715478.1:n.25283-16_25283-15dup
XM_006715416.1:c.25268-16_25268-15dup XP_006715479.1:n.25268-16_25268-15dup
XM_006715417.1:c.25211-16_25211-15dup XP_006715480.1:n.25211-16_25211-15dup
XM_006715420.1:c.25199-16_25199-15dup XP_006715483.1:n.25199-16_25199-15dup
XM_006715421.1:c.25196-16_25196-15dup XP_006715484.1:n.25196-16_25196-15dup
XM_006715422.1:c.25193-16_25193-15dup XP_006715485.1:n.25193-16_25193-15dup
XM_006715423.1:c.25352-16_25352-15dup XP_006715486.1:n.25352-16_25352-15dup
XM_006715424.1:c.25352-16_25352-15dup XP_006715487.1:n.25352-16_25352-15dup
XM_006715425.1:c.25283-16_25283-15dup XP_006715488.1:n.25283-16_25283-15dup
XM_011535641.1:c.25349-16_25349-15dup XP_011533943.1:n.25349-16_25349-15dup
XM_011535642.1:c.25337-16_25337-15dup XP_011533944.1:n.25337-16_25337-15dup
XM_011535643.1:c.25187-16_25187-15dup XP_011533945.1:n.25187-16_25187-15dup
XM_011535644.1:c.23627-16_23627-15dup XP_011533946.1:n.23627-16_23627-15dup
XM_011535645.1:c.23120-16_23120-15dup XP_011533947.1:n.23120-16_23120-15dup
XM_011535647.1:c.18587-16_18587-15dup XP_011533949.1:n.18587-16_18587-15dup
NM_001347701.1:c.1853-16_1853-15dup NP_001334630.1:n.1853-16_1853-15dup
NM_001347702.1:c.1781-16_1781-15dup NP_001334631.1:n.1781-16_1781-15dup
XM_006715408.2:c.25340-16_25340-15dup XP_006715471.1:n.25340-16_25340-15dup
XM_006715410.2:c.25352-16_25352-15dup XP_006715473.1:n.25352-16_25352-15dup
XM_006715412.2:c.25337-16_25337-15dup XP_006715475.1:n.25337-16_25337-15dup
XM_006715413.2:c.25283-16_25283-15dup XP_006715476.1:n.25283-16_25283-15dup
XM_006715415.2:c.25283-16_25283-15dup XP_006715478.1:n.25283-16_25283-15dup
XM_006715416.2:c.25268-16_25268-15dup XP_006715479.1:n.25268-16_25268-15dup
XM_006715417.2:c.25211-16_25211-15dup XP_006715480.1:n.25211-16_25211-15dup
XM_006715420.2:c.25199-16_25199-15dup XP_006715483.1:n.25199-16_25199-15dup
XM_006715421.2:c.25196-16_25196-15dup XP_006715484.1:n.25196-16_25196-15dup
XM_006715423.2:c.25352-16_25352-15dup XP_006715486.1:n.25352-16_25352-15dup
XM_006715424.2:c.25352-16_25352-15dup XP_006715487.1:n.25352-16_25352-15dup
XM_006715425.2:c.25283-16_25283-15dup XP_006715488.1:n.25283-16_25283-15dup
XM_011535641.2:c.25349-16_25349-15dup XP_011533943.1:n.25349-16_25349-15dup
XM_011535642.2:c.25337-16_25337-15dup XP_011533944.1:n.25337-16_25337-15dup
XM_011535645.2:c.23120-16_23120-15dup XP_011533947.1:n.23120-16_23120-15dup
XM_017010608.1:c.25352-16_25352-15dup XP_016866097.1:n.25352-16_25352-15dup
XM_017010609.1:c.25352-16_25352-15dup XP_016866098.1:n.25352-16_25352-15dup
XM_017010610.1:c.25331-16_25331-15dup XP_016866099.1:n.25331-16_25331-15dup
XM_017010611.2:c.25325-16_25325-15dup XP_016866100.1:n.25325-16_25325-15dup
XM_017010612.1:c.25274-16_25274-15dup XP_016866101.1:n.25274-16_25274-15dup
XM_017010613.1:c.25280-16_25280-15dup XP_016866102.1:n.25280-16_25280-15dup
XM_017010614.1:c.25196-16_25196-15dup XP_016866103.1:n.25196-16_25196-15dup
XM_017010615.1:c.25127-16_25127-15dup XP_016866104.1:n.25127-16_25127-15dup
XM_017010616.1:c.25283-16_25283-15dup XP_016866105.1:n.25283-16_25283-15dup
XM_017010617.1:c.25280-16_25280-15dup XP_016866106.1:n.25280-16_25280-15dup
XM_017010618.1:c.25268-16_25268-15dup XP_016866107.1:n.25268-16_25268-15dup
XM_017010619.1:c.23627-16_23627-15dup XP_016866108.1:n.23627-16_23627-15dup
NM_182961.4:c.25247-16_25247-15dup MANE Select NP_892006.3:n.25247-16_25247-15dup
NM_001347701.2:c.1853-16_1853-15dup NP_001334630.1:n.1853-16_1853-15dup
NM_001347702.2:c.1781-16_1781-15dup MANE Plus Clinical NP_001334631.1:n.1781-16_1781-15dup
NM_033071.5:c.25103-16_25103-15dup NP_149062.2:n.25103-16_25103-15dup