Canonical Allele Identifier: CA452969914

Gene: SYNE1

Linked Data

• dbSNP Id: rs2058214050
• MyVariant Identifiers: chr6:g.152461211C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140076C>T , CM000668.2:g.152140076C>T	GRCh38
NC_000006.11:g.152461211C>T , CM000668.1:g.152461211C>T	GRCh37
NC_000006.10:g.152502904C>T	NCBI36
NG_012855.1:g.502324G>A
NG_012855.2:g.502324G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1866G>A MANE Plus Clinical	ENSP00000346701.4:p.Gln622=
ENST00000367255.10:c.25332G>A MANE Select	ENSP00000356224.5:p.Gln8444=
ENST00000423061.6:c.25188G>A	ENSP00000396024.1:p.Gln8396=
ENST00000672154.1:c.734G>A
ENST00000672169.1:c.1067G>A
ENST00000673173.1:c.976G>A
ENST00000673451.1:c.1104G>A	ENSP00000500189.1:p.Gln368=
ENST00000341594.9:c.24117G>A	ENSP00000341887.6:p.Gln8039=
ENST00000347037.9:n.2080G>A
ENST00000354674.4:c.1866G>A	ENSP00000346701.4:p.Gln622=
ENST00000367251.7:c.4167G>A	ENSP00000356220.3:p.Gln1389=
ENST00000367255.9:c.25332G>A	ENSP00000356224.5:p.Gln8444=
ENST00000367256.9:n.9024G>A
ENST00000367257.8:c.3270G>A	ENSP00000356226.4:p.Gln1090=
ENST00000409694.6:n.8916G>A
ENST00000423061.5:c.25188G>A	ENSP00000396024.1:p.Gln8396=
ENST00000460912.6:n.1946G>A
ENST00000478916.5:n.4354G>A
ENST00000536990.5:n.2169G>A
ENST00000539504.5:c.1797G>A	ENSP00000441052.1:p.Gln599=
NM_033071.3:c.25188G>A	NP_149062.1:p.Gln8396=
NM_182961.3:c.25332G>A	NP_892006.3:p.Gln8444=
XM_006715407.1:c.25437G>A	XP_006715470.1:p.Gln8479=
XM_006715408.1:c.25425G>A	XP_006715471.1:p.Gln8475=
XM_006715409.1:c.25416G>A	XP_006715472.1:p.Gln8472=
XM_006715410.1:c.25437G>A	XP_006715473.1:p.Gln8479=
XM_006715411.1:c.25386G>A	XP_006715474.1:p.Gln8462=
XM_006715412.1:c.25422G>A	XP_006715475.1:p.Gln8474=
XM_006715413.1:c.25368G>A	XP_006715476.1:p.Gln8456=
XM_006715414.1:c.25365G>A	XP_006715477.1:p.Gln8455=
XM_006715415.1:c.25368G>A	XP_006715478.1:p.Gln8456=
XM_006715416.1:c.25353G>A	XP_006715479.1:p.Gln8451=
XM_006715417.1:c.25296G>A	XP_006715480.1:p.Gln8432=
XM_006715420.1:c.25284G>A	XP_006715483.1:p.Gln8428=
XM_006715421.1:c.25281G>A	XP_006715484.1:p.Gln8427=
XM_006715422.1:c.25278G>A	XP_006715485.1:p.Gln8426=
XM_006715423.1:c.25437G>A	XP_006715486.1:p.Gln8479=
XM_006715424.1:c.25437G>A	XP_006715487.1:p.Gln8479=
XM_006715425.1:c.25368G>A	XP_006715488.1:p.Gln8456=
XM_011535641.1:c.25434G>A	XP_011533943.1:p.Gln8478=
XM_011535642.1:c.25422G>A	XP_011533944.1:p.Gln8474=
XM_011535643.1:c.25272G>A	XP_011533945.1:p.Gln8424=
XM_011535644.1:c.23712G>A	XP_011533946.1:p.Gln7904=
XM_011535645.1:c.23205G>A	XP_011533947.1:p.Gln7735=
XM_011535647.1:c.18672G>A	XP_011533949.1:p.Gln6224=
NM_001347701.1:c.1938G>A	NP_001334630.1:p.Gln646=
NM_001347702.1:c.1866G>A	NP_001334631.1:p.Gln622=
XM_006715408.2:c.25425G>A	XP_006715471.1:p.Gln8475=
XM_006715410.2:c.25437G>A	XP_006715473.1:p.Gln8479=
XM_006715412.2:c.25422G>A	XP_006715475.1:p.Gln8474=
XM_006715413.2:c.25368G>A	XP_006715476.1:p.Gln8456=
XM_006715415.2:c.25368G>A	XP_006715478.1:p.Gln8456=
XM_006715416.2:c.25353G>A	XP_006715479.1:p.Gln8451=
XM_006715417.2:c.25296G>A	XP_006715480.1:p.Gln8432=
XM_006715420.2:c.25284G>A	XP_006715483.1:p.Gln8428=
XM_006715421.2:c.25281G>A	XP_006715484.1:p.Gln8427=
XM_006715423.2:c.25437G>A	XP_006715486.1:p.Gln8479=
XM_006715424.2:c.25437G>A	XP_006715487.1:p.Gln8479=
XM_006715425.2:c.25368G>A	XP_006715488.1:p.Gln8456=
XM_011535641.2:c.25434G>A	XP_011533943.1:p.Gln8478=
XM_011535642.2:c.25422G>A	XP_011533944.1:p.Gln8474=
XM_011535645.2:c.23205G>A	XP_011533947.1:p.Gln7735=
XM_017010608.1:c.25437G>A	XP_016866097.1:p.Gln8479=
XM_017010609.1:c.25437G>A	XP_016866098.1:p.Gln8479=
XM_017010610.1:c.25416G>A	XP_016866099.1:p.Gln8472=
XM_017010611.2:c.25410G>A	XP_016866100.1:p.Gln8470=
XM_017010612.1:c.25359G>A	XP_016866101.1:p.Gln8453=
XM_017010613.1:c.25365G>A	XP_016866102.1:p.Gln8455=
XM_017010614.1:c.25281G>A	XP_016866103.1:p.Gln8427=
XM_017010615.1:c.25212G>A	XP_016866104.1:p.Gln8404=
XM_017010616.1:c.25368G>A	XP_016866105.1:p.Gln8456=
XM_017010617.1:c.25365G>A	XP_016866106.1:p.Gln8455=
XM_017010618.1:c.25353G>A	XP_016866107.1:p.Gln8451=
XM_017010619.1:c.23712G>A	XP_016866108.1:p.Gln7904=
NM_182961.4:c.25332G>A MANE Select	NP_892006.3:p.Gln8444=
NM_001347701.2:c.1938G>A	NP_001334630.1:p.Gln646=
NM_001347702.2:c.1866G>A MANE Plus Clinical	NP_001334631.1:p.Gln622=
NM_033071.5:c.25188G>A	NP_149062.2:p.Gln8396=