Canonical Allele Identifier: CA366088693

Gene: SYNE1 ESR1

Linked Data

• gnomAD v4: 6-152122512-C-G
• MyVariant Identifiers: chr6:g.152443647C>G (hg19) ; chr6:g.152122512C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2852G>C (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Ser951Thr
ENST00000367255.10:c.26318G>C (SYNE1) MANE Select	ENSP00000356224.5:p.Ser8773Thr
ENST00000423061.6:c.26174G>C (SYNE1)	ENSP00000396024.1:p.Ser8725Thr
ENST00000672154.1:c.1661G>C (SYNE1)
ENST00000672169.1:c.2036G>C (SYNE1)
ENST00000673173.1:c.1903G>C (SYNE1)
ENST00000673451.1:c.2168G>C (SYNE1)	ENSP00000500189.1:n.2168G>C
ENST00000341594.9:c.25103G>C (SYNE1)	ENSP00000341887.6:p.Ser8368Thr
ENST00000347037.9:n.3066G>C (SYNE1)
ENST00000354674.4:c.2852G>C (SYNE1)	ENSP00000346701.4:p.Ser951Thr
ENST00000367251.7:c.5094G>C (SYNE1)	ENSP00000356220.3:n.5094G>C
ENST00000367255.9:c.26318G>C (SYNE1)	ENSP00000356224.5:p.Ser8773Thr
ENST00000367256.9:n.10010G>C (SYNE1)
ENST00000367257.8:c.4197G>C (SYNE1)	ENSP00000356226.4:n.4197G>C
ENST00000409694.6:n.9902G>C (SYNE1)
ENST00000423061.5:c.26174G>C (SYNE1)	ENSP00000396024.1:p.Ser8725Thr
ENST00000427531.6:c.851-2754C>G (ESR1)	ENSP00000394721.2:n.851-2754C>G
ENST00000460912.6:n.2932G>C (SYNE1)
ENST00000478916.5:n.6955G>C (SYNE1)
ENST00000539504.5:c.2783G>C (SYNE1)	ENSP00000441052.1:p.Ser928Thr
NM_033071.3:c.26174G>C (SYNE1)	NP_149062.1:p.Ser8725Thr
NM_182961.3:c.26318G>C (SYNE1)	NP_892006.3:p.Ser8773Thr
XM_006715407.1:c.26465G>C (SYNE1)	XP_006715470.1:p.Ser8822Thr
XM_006715408.1:c.26453G>C (SYNE1)	XP_006715471.1:p.Ser8818Thr
XM_006715409.1:c.26444G>C (SYNE1)	XP_006715472.1:p.Ser8815Thr
XM_006715410.1:c.26423G>C (SYNE1)	XP_006715473.1:p.Ser8808Thr
XM_006715411.1:c.26414G>C (SYNE1)	XP_006715474.1:p.Ser8805Thr
XM_006715412.1:c.26408G>C (SYNE1)	XP_006715475.1:p.Ser8803Thr
XM_006715413.1:c.26396G>C (SYNE1)	XP_006715476.1:p.Ser8799Thr
XM_006715414.1:c.26393G>C (SYNE1)	XP_006715477.1:p.Ser8798Thr
XM_006715415.1:c.26354G>C (SYNE1)	XP_006715478.1:p.Ser8785Thr
XM_006715416.1:c.26339G>C (SYNE1)	XP_006715479.1:p.Ser8780Thr
XM_006715417.1:c.26324G>C (SYNE1)	XP_006715480.1:p.Ser8775Thr
XM_006715420.1:c.26312G>C (SYNE1)	XP_006715483.1:p.Ser8771Thr
XM_006715421.1:c.26309G>C (SYNE1)	XP_006715484.1:p.Ser8770Thr
XM_006715422.1:c.26306G>C (SYNE1)	XP_006715485.1:p.Ser8769Thr
XM_006715423.1:c.*129G>C (SYNE1)	XP_006715486.1:n.*129G>C
XM_006715424.1:c.*129G>C (SYNE1)	XP_006715487.1:n.*129G>C
XM_006715425.1:c.*129G>C (SYNE1)	XP_006715488.1:n.*129G>C
XM_011535641.1:c.26462G>C (SYNE1)	XP_011533943.1:p.Ser8821Thr
XM_011535642.1:c.26450G>C (SYNE1)	XP_011533944.1:p.Ser8817Thr
XM_011535643.1:c.26300G>C (SYNE1)	XP_011533945.1:p.Ser8767Thr
XM_011535644.1:c.24740G>C (SYNE1)	XP_011533946.1:p.Ser8247Thr
XM_011535645.1:c.24233G>C (SYNE1)	XP_011533947.1:p.Ser8078Thr
XM_011535647.1:c.19700G>C (SYNE1)	XP_011533949.1:p.Ser6567Thr
NM_001328100.1:c.851-2754C>G (ESR1)	NP_001315029.1:n.851-2754C>G
NM_001347701.1:c.*129G>C (SYNE1)	NP_001334630.1:n.*129G>C
NM_001347702.1:c.2852G>C (SYNE1)	NP_001334631.1:p.Ser951Thr
XM_006715408.2:c.26453G>C (SYNE1)	XP_006715471.1:p.Ser8818Thr
XM_006715410.2:c.26423G>C (SYNE1)	XP_006715473.1:p.Ser8808Thr
XM_006715412.2:c.26408G>C (SYNE1)	XP_006715475.1:p.Ser8803Thr
XM_006715413.2:c.26396G>C (SYNE1)	XP_006715476.1:p.Ser8799Thr
XM_006715415.2:c.26354G>C (SYNE1)	XP_006715478.1:p.Ser8785Thr
XM_006715416.2:c.26339G>C (SYNE1)	XP_006715479.1:p.Ser8780Thr
XM_006715417.2:c.26324G>C (SYNE1)	XP_006715480.1:p.Ser8775Thr
XM_006715420.2:c.26312G>C (SYNE1)	XP_006715483.1:p.Ser8771Thr
XM_006715421.2:c.26309G>C (SYNE1)	XP_006715484.1:p.Ser8770Thr
XM_006715423.2:c.*129G>C (SYNE1)	XP_006715486.1:n.*129G>C
XM_006715424.2:c.*129G>C (SYNE1)	XP_006715487.1:n.*129G>C
XM_006715425.2:c.*129G>C (SYNE1)	XP_006715488.1:n.*129G>C
XM_011535641.2:c.26462G>C (SYNE1)	XP_011533943.1:p.Ser8821Thr
XM_011535642.2:c.26450G>C (SYNE1)	XP_011533944.1:p.Ser8817Thr
XM_011535645.2:c.24233G>C (SYNE1)	XP_011533947.1:p.Ser8078Thr
XM_017010608.1:c.26465G>C (SYNE1)	XP_016866097.1:p.Ser8822Thr
XM_017010609.1:c.26465G>C (SYNE1)	XP_016866098.1:p.Ser8822Thr
XM_017010610.1:c.26444G>C (SYNE1)	XP_016866099.1:p.Ser8815Thr
XM_017010611.2:c.26438G>C (SYNE1)	XP_016866100.1:p.Ser8813Thr
XM_017010612.1:c.26387G>C (SYNE1)	XP_016866101.1:p.Ser8796Thr
XM_017010613.1:c.26351G>C (SYNE1)	XP_016866102.1:p.Ser8784Thr
XM_017010614.1:c.26309G>C (SYNE1)	XP_016866103.1:p.Ser8770Thr
XM_017010615.1:c.26198G>C (SYNE1)	XP_016866104.1:p.Ser8733Thr
XM_017010616.1:c.*129G>C (SYNE1)	XP_016866105.1:n.*129G>C
XM_017010617.1:c.*129G>C (SYNE1)	XP_016866106.1:n.*129G>C
XM_017010618.1:c.*129G>C (SYNE1)	XP_016866107.1:n.*129G>C
XM_017010619.1:c.24740G>C (SYNE1)	XP_016866108.1:p.Ser8247Thr
NM_182961.4:c.26318G>C (SYNE1) MANE Select	NP_892006.3:p.Ser8773Thr
NM_001328100.2:c.851-2754C>G (ESR1)	NP_001315029.1:n.851-2754C>G
NM_001347701.2:c.*129G>C (SYNE1)	NP_001334630.1:n.*129G>C
NM_001347702.2:c.2852G>C (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Ser951Thr
NM_033071.5:c.26174G>C (SYNE1)	NP_149062.2:p.Ser8725Thr