Canonical Allele Identifier: CA366088699

Gene: SYNE1 ESR1

Linked Data

• gnomAD v4: 6-152122513-T-C
• MyVariant Identifiers: chr6:g.152443648T>C (hg19) ; chr6:g.152122513T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122513T>C , CM000668.2:g.152122513T>C	GRCh38
NC_000006.11:g.152443648T>C , CM000668.1:g.152443648T>C	GRCh37
NC_000006.10:g.152485341T>C	NCBI36
NG_012855.1:g.519887A>G
NG_008493.2:g.470823T>C
NG_012855.2:g.519887A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000354674.5:c.2851A>G (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Ser951Gly
ENST00000367255.10:c.26317A>G (SYNE1) MANE Select	ENSP00000356224.5:p.Ser8773Gly
ENST00000423061.6:c.26173A>G (SYNE1)	ENSP00000396024.1:p.Ser8725Gly
ENST00000672154.1:c.1660A>G (SYNE1)
ENST00000672169.1:c.2035A>G (SYNE1)
ENST00000673173.1:c.1902A>G (SYNE1)
ENST00000673451.1:c.2167A>G (SYNE1)	ENSP00000500189.1:n.2167A>G
ENST00000341594.9:c.25102A>G (SYNE1)	ENSP00000341887.6:p.Ser8368Gly
ENST00000347037.9:n.3065A>G (SYNE1)
ENST00000354674.4:c.2851A>G (SYNE1)	ENSP00000346701.4:p.Ser951Gly
ENST00000367251.7:c.5093A>G (SYNE1)	ENSP00000356220.3:n.5093A>G
ENST00000367255.9:c.26317A>G (SYNE1)	ENSP00000356224.5:p.Ser8773Gly
ENST00000367256.9:n.10009A>G (SYNE1)
ENST00000367257.8:c.4196A>G (SYNE1)	ENSP00000356226.4:n.4196A>G
ENST00000409694.6:n.9901A>G (SYNE1)
ENST00000423061.5:c.26173A>G (SYNE1)	ENSP00000396024.1:p.Ser8725Gly
ENST00000427531.6:c.851-2753T>C (ESR1)	ENSP00000394721.2:n.851-2753T>C
ENST00000460912.6:n.2931A>G (SYNE1)
ENST00000478916.5:n.6954A>G (SYNE1)
ENST00000539504.5:c.2782A>G (SYNE1)	ENSP00000441052.1:p.Ser928Gly
NM_033071.3:c.26173A>G (SYNE1)	NP_149062.1:p.Ser8725Gly
NM_182961.3:c.26317A>G (SYNE1)	NP_892006.3:p.Ser8773Gly
XM_006715407.1:c.26464A>G (SYNE1)	XP_006715470.1:p.Ser8822Gly
XM_006715408.1:c.26452A>G (SYNE1)	XP_006715471.1:p.Ser8818Gly
XM_006715409.1:c.26443A>G (SYNE1)	XP_006715472.1:p.Ser8815Gly
XM_006715410.1:c.26422A>G (SYNE1)	XP_006715473.1:p.Ser8808Gly
XM_006715411.1:c.26413A>G (SYNE1)	XP_006715474.1:p.Ser8805Gly
XM_006715412.1:c.26407A>G (SYNE1)	XP_006715475.1:p.Ser8803Gly
XM_006715413.1:c.26395A>G (SYNE1)	XP_006715476.1:p.Ser8799Gly
XM_006715414.1:c.26392A>G (SYNE1)	XP_006715477.1:p.Ser8798Gly
XM_006715415.1:c.26353A>G (SYNE1)	XP_006715478.1:p.Ser8785Gly
XM_006715416.1:c.26338A>G (SYNE1)	XP_006715479.1:p.Ser8780Gly
XM_006715417.1:c.26323A>G (SYNE1)	XP_006715480.1:p.Ser8775Gly
XM_006715420.1:c.26311A>G (SYNE1)	XP_006715483.1:p.Ser8771Gly
XM_006715421.1:c.26308A>G (SYNE1)	XP_006715484.1:p.Ser8770Gly
XM_006715422.1:c.26305A>G (SYNE1)	XP_006715485.1:p.Ser8769Gly
XM_006715423.1:c.*128A>G (SYNE1)	XP_006715486.1:n.*128A>G
XM_006715424.1:c.*128A>G (SYNE1)	XP_006715487.1:n.*128A>G
XM_006715425.1:c.*128A>G (SYNE1)	XP_006715488.1:n.*128A>G
XM_011535641.1:c.26461A>G (SYNE1)	XP_011533943.1:p.Ser8821Gly
XM_011535642.1:c.26449A>G (SYNE1)	XP_011533944.1:p.Ser8817Gly
XM_011535643.1:c.26299A>G (SYNE1)	XP_011533945.1:p.Ser8767Gly
XM_011535644.1:c.24739A>G (SYNE1)	XP_011533946.1:p.Ser8247Gly
XM_011535645.1:c.24232A>G (SYNE1)	XP_011533947.1:p.Ser8078Gly
XM_011535647.1:c.19699A>G (SYNE1)	XP_011533949.1:p.Ser6567Gly
NM_001328100.1:c.851-2753T>C (ESR1)	NP_001315029.1:n.851-2753T>C
NM_001347701.1:c.*128A>G (SYNE1)	NP_001334630.1:n.*128A>G
NM_001347702.1:c.2851A>G (SYNE1)	NP_001334631.1:p.Ser951Gly
XM_006715408.2:c.26452A>G (SYNE1)	XP_006715471.1:p.Ser8818Gly
XM_006715410.2:c.26422A>G (SYNE1)	XP_006715473.1:p.Ser8808Gly
XM_006715412.2:c.26407A>G (SYNE1)	XP_006715475.1:p.Ser8803Gly
XM_006715413.2:c.26395A>G (SYNE1)	XP_006715476.1:p.Ser8799Gly
XM_006715415.2:c.26353A>G (SYNE1)	XP_006715478.1:p.Ser8785Gly
XM_006715416.2:c.26338A>G (SYNE1)	XP_006715479.1:p.Ser8780Gly
XM_006715417.2:c.26323A>G (SYNE1)	XP_006715480.1:p.Ser8775Gly
XM_006715420.2:c.26311A>G (SYNE1)	XP_006715483.1:p.Ser8771Gly
XM_006715421.2:c.26308A>G (SYNE1)	XP_006715484.1:p.Ser8770Gly
XM_006715423.2:c.*128A>G (SYNE1)	XP_006715486.1:n.*128A>G
XM_006715424.2:c.*128A>G (SYNE1)	XP_006715487.1:n.*128A>G
XM_006715425.2:c.*128A>G (SYNE1)	XP_006715488.1:n.*128A>G
XM_011535641.2:c.26461A>G (SYNE1)	XP_011533943.1:p.Ser8821Gly
XM_011535642.2:c.26449A>G (SYNE1)	XP_011533944.1:p.Ser8817Gly
XM_011535645.2:c.24232A>G (SYNE1)	XP_011533947.1:p.Ser8078Gly
XM_017010608.1:c.26464A>G (SYNE1)	XP_016866097.1:p.Ser8822Gly
XM_017010609.1:c.26464A>G (SYNE1)	XP_016866098.1:p.Ser8822Gly
XM_017010610.1:c.26443A>G (SYNE1)	XP_016866099.1:p.Ser8815Gly
XM_017010611.2:c.26437A>G (SYNE1)	XP_016866100.1:p.Ser8813Gly
XM_017010612.1:c.26386A>G (SYNE1)	XP_016866101.1:p.Ser8796Gly
XM_017010613.1:c.26350A>G (SYNE1)	XP_016866102.1:p.Ser8784Gly
XM_017010614.1:c.26308A>G (SYNE1)	XP_016866103.1:p.Ser8770Gly
XM_017010615.1:c.26197A>G (SYNE1)	XP_016866104.1:p.Ser8733Gly
XM_017010616.1:c.*128A>G (SYNE1)	XP_016866105.1:n.*128A>G
XM_017010617.1:c.*128A>G (SYNE1)	XP_016866106.1:n.*128A>G
XM_017010618.1:c.*128A>G (SYNE1)	XP_016866107.1:n.*128A>G
XM_017010619.1:c.24739A>G (SYNE1)	XP_016866108.1:p.Ser8247Gly
NM_182961.4:c.26317A>G (SYNE1) MANE Select	NP_892006.3:p.Ser8773Gly
NM_001328100.2:c.851-2753T>C (ESR1)	NP_001315029.1:n.851-2753T>C
NM_001347701.2:c.*128A>G (SYNE1)	NP_001334630.1:n.*128A>G
NM_001347702.2:c.2851A>G (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Ser951Gly
NM_033071.5:c.26173A>G (SYNE1)	NP_149062.2:p.Ser8725Gly