Canonical Allele Identifier: CA366088694

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443647C>T (hg19) ; chr6:g.152122512C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122512C>T , CM000668.2:g.152122512C>T	GRCh38
NC_000006.11:g.152443647C>T , CM000668.1:g.152443647C>T	GRCh37
NC_000006.10:g.152485340C>T	NCBI36
NG_012855.1:g.519888G>A
NG_008493.2:g.470822C>T
NG_012855.2:g.519888G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2852G>A (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Ser951Asn
ENST00000367255.10:c.26318G>A (SYNE1) MANE Select	ENSP00000356224.5:p.Ser8773Asn
ENST00000423061.6:c.26174G>A (SYNE1)	ENSP00000396024.1:p.Ser8725Asn
ENST00000672154.1:c.1661G>A (SYNE1)
ENST00000672169.1:c.2036G>A (SYNE1)
ENST00000673173.1:c.1903G>A (SYNE1)
ENST00000673451.1:c.2168G>A (SYNE1)	ENSP00000500189.1:n.2168G>A
ENST00000341594.9:c.25103G>A (SYNE1)	ENSP00000341887.6:p.Ser8368Asn
ENST00000347037.9:n.3066G>A (SYNE1)
ENST00000354674.4:c.2852G>A (SYNE1)	ENSP00000346701.4:p.Ser951Asn
ENST00000367251.7:c.5094G>A (SYNE1)	ENSP00000356220.3:n.5094G>A
ENST00000367255.9:c.26318G>A (SYNE1)	ENSP00000356224.5:p.Ser8773Asn
ENST00000367256.9:n.10010G>A (SYNE1)
ENST00000367257.8:c.4197G>A (SYNE1)	ENSP00000356226.4:n.4197G>A
ENST00000409694.6:n.9902G>A (SYNE1)
ENST00000423061.5:c.26174G>A (SYNE1)	ENSP00000396024.1:p.Ser8725Asn
ENST00000427531.6:c.851-2754C>T (ESR1)	ENSP00000394721.2:n.851-2754C>T
ENST00000460912.6:n.2932G>A (SYNE1)
ENST00000478916.5:n.6955G>A (SYNE1)
ENST00000539504.5:c.2783G>A (SYNE1)	ENSP00000441052.1:p.Ser928Asn
NM_033071.3:c.26174G>A (SYNE1)	NP_149062.1:p.Ser8725Asn
NM_182961.3:c.26318G>A (SYNE1)	NP_892006.3:p.Ser8773Asn
XM_006715407.1:c.26465G>A (SYNE1)	XP_006715470.1:p.Ser8822Asn
XM_006715408.1:c.26453G>A (SYNE1)	XP_006715471.1:p.Ser8818Asn
XM_006715409.1:c.26444G>A (SYNE1)	XP_006715472.1:p.Ser8815Asn
XM_006715410.1:c.26423G>A (SYNE1)	XP_006715473.1:p.Ser8808Asn
XM_006715411.1:c.26414G>A (SYNE1)	XP_006715474.1:p.Ser8805Asn
XM_006715412.1:c.26408G>A (SYNE1)	XP_006715475.1:p.Ser8803Asn
XM_006715413.1:c.26396G>A (SYNE1)	XP_006715476.1:p.Ser8799Asn
XM_006715414.1:c.26393G>A (SYNE1)	XP_006715477.1:p.Ser8798Asn
XM_006715415.1:c.26354G>A (SYNE1)	XP_006715478.1:p.Ser8785Asn
XM_006715416.1:c.26339G>A (SYNE1)	XP_006715479.1:p.Ser8780Asn
XM_006715417.1:c.26324G>A (SYNE1)	XP_006715480.1:p.Ser8775Asn
XM_006715420.1:c.26312G>A (SYNE1)	XP_006715483.1:p.Ser8771Asn
XM_006715421.1:c.26309G>A (SYNE1)	XP_006715484.1:p.Ser8770Asn
XM_006715422.1:c.26306G>A (SYNE1)	XP_006715485.1:p.Ser8769Asn
XM_006715423.1:c.*129G>A (SYNE1)	XP_006715486.1:n.*129G>A
XM_006715424.1:c.*129G>A (SYNE1)	XP_006715487.1:n.*129G>A
XM_006715425.1:c.*129G>A (SYNE1)	XP_006715488.1:n.*129G>A
XM_011535641.1:c.26462G>A (SYNE1)	XP_011533943.1:p.Ser8821Asn
XM_011535642.1:c.26450G>A (SYNE1)	XP_011533944.1:p.Ser8817Asn
XM_011535643.1:c.26300G>A (SYNE1)	XP_011533945.1:p.Ser8767Asn
XM_011535644.1:c.24740G>A (SYNE1)	XP_011533946.1:p.Ser8247Asn
XM_011535645.1:c.24233G>A (SYNE1)	XP_011533947.1:p.Ser8078Asn
XM_011535647.1:c.19700G>A (SYNE1)	XP_011533949.1:p.Ser6567Asn
NM_001328100.1:c.851-2754C>T (ESR1)	NP_001315029.1:n.851-2754C>T
NM_001347701.1:c.*129G>A (SYNE1)	NP_001334630.1:n.*129G>A
NM_001347702.1:c.2852G>A (SYNE1)	NP_001334631.1:p.Ser951Asn
XM_006715408.2:c.26453G>A (SYNE1)	XP_006715471.1:p.Ser8818Asn
XM_006715410.2:c.26423G>A (SYNE1)	XP_006715473.1:p.Ser8808Asn
XM_006715412.2:c.26408G>A (SYNE1)	XP_006715475.1:p.Ser8803Asn
XM_006715413.2:c.26396G>A (SYNE1)	XP_006715476.1:p.Ser8799Asn
XM_006715415.2:c.26354G>A (SYNE1)	XP_006715478.1:p.Ser8785Asn
XM_006715416.2:c.26339G>A (SYNE1)	XP_006715479.1:p.Ser8780Asn
XM_006715417.2:c.26324G>A (SYNE1)	XP_006715480.1:p.Ser8775Asn
XM_006715420.2:c.26312G>A (SYNE1)	XP_006715483.1:p.Ser8771Asn
XM_006715421.2:c.26309G>A (SYNE1)	XP_006715484.1:p.Ser8770Asn
XM_006715423.2:c.*129G>A (SYNE1)	XP_006715486.1:n.*129G>A
XM_006715424.2:c.*129G>A (SYNE1)	XP_006715487.1:n.*129G>A
XM_006715425.2:c.*129G>A (SYNE1)	XP_006715488.1:n.*129G>A
XM_011535641.2:c.26462G>A (SYNE1)	XP_011533943.1:p.Ser8821Asn
XM_011535642.2:c.26450G>A (SYNE1)	XP_011533944.1:p.Ser8817Asn
XM_011535645.2:c.24233G>A (SYNE1)	XP_011533947.1:p.Ser8078Asn
XM_017010608.1:c.26465G>A (SYNE1)	XP_016866097.1:p.Ser8822Asn
XM_017010609.1:c.26465G>A (SYNE1)	XP_016866098.1:p.Ser8822Asn
XM_017010610.1:c.26444G>A (SYNE1)	XP_016866099.1:p.Ser8815Asn
XM_017010611.2:c.26438G>A (SYNE1)	XP_016866100.1:p.Ser8813Asn
XM_017010612.1:c.26387G>A (SYNE1)	XP_016866101.1:p.Ser8796Asn
XM_017010613.1:c.26351G>A (SYNE1)	XP_016866102.1:p.Ser8784Asn
XM_017010614.1:c.26309G>A (SYNE1)	XP_016866103.1:p.Ser8770Asn
XM_017010615.1:c.26198G>A (SYNE1)	XP_016866104.1:p.Ser8733Asn
XM_017010616.1:c.*129G>A (SYNE1)	XP_016866105.1:n.*129G>A
XM_017010617.1:c.*129G>A (SYNE1)	XP_016866106.1:n.*129G>A
XM_017010618.1:c.*129G>A (SYNE1)	XP_016866107.1:n.*129G>A
XM_017010619.1:c.24740G>A (SYNE1)	XP_016866108.1:p.Ser8247Asn
NM_182961.4:c.26318G>A (SYNE1) MANE Select	NP_892006.3:p.Ser8773Asn
NM_001328100.2:c.851-2754C>T (ESR1)	NP_001315029.1:n.851-2754C>T
NM_001347701.2:c.*129G>A (SYNE1)	NP_001334630.1:n.*129G>A
NM_001347702.2:c.2852G>A (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Ser951Asn
NM_033071.5:c.26174G>A (SYNE1)	NP_149062.2:p.Ser8725Asn