Canonical Allele Identifier: CA366081239

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152462345T>A (hg19) ; chr6:g.152141210T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152141210T>A , CM000668.2:g.152141210T>A	GRCh38
NC_000006.11:g.152462345T>A , CM000668.1:g.152462345T>A	GRCh37
NC_000006.10:g.152504038T>A	NCBI36
NG_012855.1:g.501190A>T
NG_012855.2:g.501190A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1773A>T MANE Plus Clinical	ENSP00000346701.4:p.Gln591His
ENST00000367255.10:c.25239A>T MANE Select	ENSP00000356224.5:p.Gln8413His
ENST00000423061.6:c.25095A>T	ENSP00000396024.1:p.Gln8365His
ENST00000672154.1:c.641A>T
ENST00000672169.1:c.974A>T
ENST00000673173.1:c.891-1049A>T
ENST00000673451.1:c.1011A>T	ENSP00000500189.1:p.Gln337His
ENST00000341594.9:c.24024A>T	ENSP00000341887.6:p.Gln8008His
ENST00000347037.9:n.1987A>T
ENST00000354674.4:c.1773A>T	ENSP00000346701.4:p.Gln591His
ENST00000367251.7:c.4074A>T	ENSP00000356220.3:p.Gln1358His
ENST00000367255.9:c.25239A>T	ENSP00000356224.5:p.Gln8413His
ENST00000367256.9:n.8931A>T
ENST00000367257.8:c.3177A>T	ENSP00000356226.4:p.Gln1059His
ENST00000409694.6:n.8823A>T
ENST00000423061.5:c.25095A>T	ENSP00000396024.1:p.Gln8365His
ENST00000460912.6:n.1853A>T
ENST00000478916.5:n.4261A>T
ENST00000536990.5:n.2076A>T
ENST00000539504.5:c.1704A>T	ENSP00000441052.1:p.Gln568His
NM_033071.3:c.25095A>T	NP_149062.1:p.Gln8365His
NM_182961.3:c.25239A>T	NP_892006.3:p.Gln8413His
XM_006715407.1:c.25344A>T	XP_006715470.1:p.Gln8448His
XM_006715408.1:c.25332A>T	XP_006715471.1:p.Gln8444His
XM_006715409.1:c.25323A>T	XP_006715472.1:p.Gln8441His
XM_006715410.1:c.25344A>T	XP_006715473.1:p.Gln8448His
XM_006715411.1:c.25293A>T	XP_006715474.1:p.Gln8431His
XM_006715412.1:c.25329A>T	XP_006715475.1:p.Gln8443His
XM_006715413.1:c.25275A>T	XP_006715476.1:p.Gln8425His
XM_006715414.1:c.25272A>T	XP_006715477.1:p.Gln8424His
XM_006715415.1:c.25275A>T	XP_006715478.1:p.Gln8425His
XM_006715416.1:c.25260A>T	XP_006715479.1:p.Gln8420His
XM_006715417.1:c.25203A>T	XP_006715480.1:p.Gln8401His
XM_006715420.1:c.25191A>T	XP_006715483.1:p.Gln8397His
XM_006715421.1:c.25188A>T	XP_006715484.1:p.Gln8396His
XM_006715422.1:c.25185A>T	XP_006715485.1:p.Gln8395His
XM_006715423.1:c.25344A>T	XP_006715486.1:p.Gln8448His
XM_006715424.1:c.25344A>T	XP_006715487.1:p.Gln8448His
XM_006715425.1:c.25275A>T	XP_006715488.1:p.Gln8425His
XM_011535641.1:c.25341A>T	XP_011533943.1:p.Gln8447His
XM_011535642.1:c.25329A>T	XP_011533944.1:p.Gln8443His
XM_011535643.1:c.25179A>T	XP_011533945.1:p.Gln8393His
XM_011535644.1:c.23619A>T	XP_011533946.1:p.Gln7873His
XM_011535645.1:c.23112A>T	XP_011533947.1:p.Gln7704His
XM_011535647.1:c.18579A>T	XP_011533949.1:p.Gln6193His
NM_001347701.1:c.1845A>T	NP_001334630.1:p.Gln615His
NM_001347702.1:c.1773A>T	NP_001334631.1:p.Gln591His
XM_006715408.2:c.25332A>T	XP_006715471.1:p.Gln8444His
XM_006715410.2:c.25344A>T	XP_006715473.1:p.Gln8448His
XM_006715412.2:c.25329A>T	XP_006715475.1:p.Gln8443His
XM_006715413.2:c.25275A>T	XP_006715476.1:p.Gln8425His
XM_006715415.2:c.25275A>T	XP_006715478.1:p.Gln8425His
XM_006715416.2:c.25260A>T	XP_006715479.1:p.Gln8420His
XM_006715417.2:c.25203A>T	XP_006715480.1:p.Gln8401His
XM_006715420.2:c.25191A>T	XP_006715483.1:p.Gln8397His
XM_006715421.2:c.25188A>T	XP_006715484.1:p.Gln8396His
XM_006715423.2:c.25344A>T	XP_006715486.1:p.Gln8448His
XM_006715424.2:c.25344A>T	XP_006715487.1:p.Gln8448His
XM_006715425.2:c.25275A>T	XP_006715488.1:p.Gln8425His
XM_011535641.2:c.25341A>T	XP_011533943.1:p.Gln8447His
XM_011535642.2:c.25329A>T	XP_011533944.1:p.Gln8443His
XM_011535645.2:c.23112A>T	XP_011533947.1:p.Gln7704His
XM_017010608.1:c.25344A>T	XP_016866097.1:p.Gln8448His
XM_017010609.1:c.25344A>T	XP_016866098.1:p.Gln8448His
XM_017010610.1:c.25323A>T	XP_016866099.1:p.Gln8441His
XM_017010611.2:c.25317A>T	XP_016866100.1:p.Gln8439His
XM_017010612.1:c.25266A>T	XP_016866101.1:p.Gln8422His
XM_017010613.1:c.25272A>T	XP_016866102.1:p.Gln8424His
XM_017010614.1:c.25188A>T	XP_016866103.1:p.Gln8396His
XM_017010615.1:c.25119A>T	XP_016866104.1:p.Gln8373His
XM_017010616.1:c.25275A>T	XP_016866105.1:p.Gln8425His
XM_017010617.1:c.25272A>T	XP_016866106.1:p.Gln8424His
XM_017010618.1:c.25260A>T	XP_016866107.1:p.Gln8420His
XM_017010619.1:c.23619A>T	XP_016866108.1:p.Gln7873His
NM_182961.4:c.25239A>T MANE Select	NP_892006.3:p.Gln8413His
NM_001347701.2:c.1845A>T	NP_001334630.1:p.Gln615His
NM_001347702.2:c.1773A>T MANE Plus Clinical	NP_001334631.1:p.Gln591His
NM_033071.5:c.25095A>T	NP_149062.2:p.Gln8365His