Canonical Allele Identifier: CA366088676

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443643A>C (hg19) ; chr6:g.152122508A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122508A>C , CM000668.2:g.152122508A>C	GRCh38
NC_000006.11:g.152443643A>C , CM000668.1:g.152443643A>C	GRCh37
NC_000006.10:g.152485336A>C	NCBI36
NG_012855.1:g.519892T>G
NG_008493.2:g.470818A>C
NG_012855.2:g.519892T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2856T>G (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Cys952Trp
ENST00000367255.10:c.26322T>G (SYNE1) MANE Select	ENSP00000356224.5:p.Cys8774Trp
ENST00000423061.6:c.26178T>G (SYNE1)	ENSP00000396024.1:p.Cys8726Trp
ENST00000672154.1:c.1665T>G (SYNE1)
ENST00000672169.1:c.2040T>G (SYNE1)
ENST00000673173.1:c.1907T>G (SYNE1)
ENST00000673451.1:c.2172T>G (SYNE1)	ENSP00000500189.1:n.2172T>G
ENST00000341594.9:c.25107T>G (SYNE1)	ENSP00000341887.6:p.Cys8369Trp
ENST00000347037.9:n.3070T>G (SYNE1)
ENST00000354674.4:c.2856T>G (SYNE1)	ENSP00000346701.4:p.Cys952Trp
ENST00000367251.7:c.5098T>G (SYNE1)	ENSP00000356220.3:n.5098T>G
ENST00000367255.9:c.26322T>G (SYNE1)	ENSP00000356224.5:p.Cys8774Trp
ENST00000367256.9:n.10014T>G (SYNE1)
ENST00000367257.8:c.4201T>G (SYNE1)	ENSP00000356226.4:n.4201T>G
ENST00000409694.6:n.9906T>G (SYNE1)
ENST00000423061.5:c.26178T>G (SYNE1)	ENSP00000396024.1:p.Cys8726Trp
ENST00000427531.6:c.851-2758A>C (ESR1)	ENSP00000394721.2:n.851-2758A>C
ENST00000460912.6:n.2936T>G (SYNE1)
ENST00000478916.5:n.6959T>G (SYNE1)
ENST00000539504.5:c.2787T>G (SYNE1)	ENSP00000441052.1:p.Cys929Trp
NM_033071.3:c.26178T>G (SYNE1)	NP_149062.1:p.Cys8726Trp
NM_182961.3:c.26322T>G (SYNE1)	NP_892006.3:p.Cys8774Trp
XM_006715407.1:c.26469T>G (SYNE1)	XP_006715470.1:p.Cys8823Trp
XM_006715408.1:c.26457T>G (SYNE1)	XP_006715471.1:p.Cys8819Trp
XM_006715409.1:c.26448T>G (SYNE1)	XP_006715472.1:p.Cys8816Trp
XM_006715410.1:c.26427T>G (SYNE1)	XP_006715473.1:p.Cys8809Trp
XM_006715411.1:c.26418T>G (SYNE1)	XP_006715474.1:p.Cys8806Trp
XM_006715412.1:c.26412T>G (SYNE1)	XP_006715475.1:p.Cys8804Trp
XM_006715413.1:c.26400T>G (SYNE1)	XP_006715476.1:p.Cys8800Trp
XM_006715414.1:c.26397T>G (SYNE1)	XP_006715477.1:p.Cys8799Trp
XM_006715415.1:c.26358T>G (SYNE1)	XP_006715478.1:p.Cys8786Trp
XM_006715416.1:c.26343T>G (SYNE1)	XP_006715479.1:p.Cys8781Trp
XM_006715417.1:c.26328T>G (SYNE1)	XP_006715480.1:p.Cys8776Trp
XM_006715420.1:c.26316T>G (SYNE1)	XP_006715483.1:p.Cys8772Trp
XM_006715421.1:c.26313T>G (SYNE1)	XP_006715484.1:p.Cys8771Trp
XM_006715422.1:c.26310T>G (SYNE1)	XP_006715485.1:p.Cys8770Trp
XM_006715423.1:c.*133T>G (SYNE1)	XP_006715486.1:n.*133T>G
XM_006715424.1:c.*133T>G (SYNE1)	XP_006715487.1:n.*133T>G
XM_006715425.1:c.*133T>G (SYNE1)	XP_006715488.1:n.*133T>G
XM_011535641.1:c.26466T>G (SYNE1)	XP_011533943.1:p.Cys8822Trp
XM_011535642.1:c.26454T>G (SYNE1)	XP_011533944.1:p.Cys8818Trp
XM_011535643.1:c.26304T>G (SYNE1)	XP_011533945.1:p.Cys8768Trp
XM_011535644.1:c.24744T>G (SYNE1)	XP_011533946.1:p.Cys8248Trp
XM_011535645.1:c.24237T>G (SYNE1)	XP_011533947.1:p.Cys8079Trp
XM_011535647.1:c.19704T>G (SYNE1)	XP_011533949.1:p.Cys6568Trp
NM_001328100.1:c.851-2758A>C (ESR1)	NP_001315029.1:n.851-2758A>C
NM_001347701.1:c.*133T>G (SYNE1)	NP_001334630.1:n.*133T>G
NM_001347702.1:c.2856T>G (SYNE1)	NP_001334631.1:p.Cys952Trp
XM_006715408.2:c.26457T>G (SYNE1)	XP_006715471.1:p.Cys8819Trp
XM_006715410.2:c.26427T>G (SYNE1)	XP_006715473.1:p.Cys8809Trp
XM_006715412.2:c.26412T>G (SYNE1)	XP_006715475.1:p.Cys8804Trp
XM_006715413.2:c.26400T>G (SYNE1)	XP_006715476.1:p.Cys8800Trp
XM_006715415.2:c.26358T>G (SYNE1)	XP_006715478.1:p.Cys8786Trp
XM_006715416.2:c.26343T>G (SYNE1)	XP_006715479.1:p.Cys8781Trp
XM_006715417.2:c.26328T>G (SYNE1)	XP_006715480.1:p.Cys8776Trp
XM_006715420.2:c.26316T>G (SYNE1)	XP_006715483.1:p.Cys8772Trp
XM_006715421.2:c.26313T>G (SYNE1)	XP_006715484.1:p.Cys8771Trp
XM_006715423.2:c.*133T>G (SYNE1)	XP_006715486.1:n.*133T>G
XM_006715424.2:c.*133T>G (SYNE1)	XP_006715487.1:n.*133T>G
XM_006715425.2:c.*133T>G (SYNE1)	XP_006715488.1:n.*133T>G
XM_011535641.2:c.26466T>G (SYNE1)	XP_011533943.1:p.Cys8822Trp
XM_011535642.2:c.26454T>G (SYNE1)	XP_011533944.1:p.Cys8818Trp
XM_011535645.2:c.24237T>G (SYNE1)	XP_011533947.1:p.Cys8079Trp
XM_017010608.1:c.26469T>G (SYNE1)	XP_016866097.1:p.Cys8823Trp
XM_017010609.1:c.26469T>G (SYNE1)	XP_016866098.1:p.Cys8823Trp
XM_017010610.1:c.26448T>G (SYNE1)	XP_016866099.1:p.Cys8816Trp
XM_017010611.2:c.26442T>G (SYNE1)	XP_016866100.1:p.Cys8814Trp
XM_017010612.1:c.26391T>G (SYNE1)	XP_016866101.1:p.Cys8797Trp
XM_017010613.1:c.26355T>G (SYNE1)	XP_016866102.1:p.Cys8785Trp
XM_017010614.1:c.26313T>G (SYNE1)	XP_016866103.1:p.Cys8771Trp
XM_017010615.1:c.26202T>G (SYNE1)	XP_016866104.1:p.Cys8734Trp
XM_017010616.1:c.*133T>G (SYNE1)	XP_016866105.1:n.*133T>G
XM_017010617.1:c.*133T>G (SYNE1)	XP_016866106.1:n.*133T>G
XM_017010618.1:c.*133T>G (SYNE1)	XP_016866107.1:n.*133T>G
XM_017010619.1:c.24744T>G (SYNE1)	XP_016866108.1:p.Cys8248Trp
NM_182961.4:c.26322T>G (SYNE1) MANE Select	NP_892006.3:p.Cys8774Trp
NM_001328100.2:c.851-2758A>C (ESR1)	NP_001315029.1:n.851-2758A>C
NM_001347701.2:c.*133T>G (SYNE1)	NP_001334630.1:n.*133T>G
NM_001347702.2:c.2856T>G (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Cys952Trp
NM_033071.5:c.26178T>G (SYNE1)	NP_149062.2:p.Cys8726Trp