Canonical Allele Identifier: CA366088749

Gene: SYNE1 ESR1

Linked Data

• ClinVar Variation Id: 2057948
• ClinVar RCV Id: RCV002914988
• MyVariant Identifiers: chr6:g.152443657C>T (hg19) ; chr6:g.152122522C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122522C>T , CM000668.2:g.152122522C>T	GRCh38
NC_000006.11:g.152443657C>T , CM000668.1:g.152443657C>T	GRCh37
NC_000006.10:g.152485350C>T	NCBI36
NG_012855.1:g.519878G>A
NG_008493.2:g.470832C>T
NG_012855.2:g.519878G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2842G>A (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Glu948Lys
ENST00000367255.10:c.26308G>A (SYNE1) MANE Select	ENSP00000356224.5:p.Glu8770Lys
ENST00000423061.6:c.26164G>A (SYNE1)	ENSP00000396024.1:p.Glu8722Lys
ENST00000672154.1:c.1651G>A (SYNE1)
ENST00000672169.1:c.2026G>A (SYNE1)
ENST00000673173.1:c.1893G>A (SYNE1)
ENST00000673451.1:c.2158G>A (SYNE1)	ENSP00000500189.1:n.2158G>A
ENST00000341594.9:c.25093G>A (SYNE1)	ENSP00000341887.6:p.Glu8365Lys
ENST00000347037.9:n.3056G>A (SYNE1)
ENST00000354674.4:c.2842G>A (SYNE1)	ENSP00000346701.4:p.Glu948Lys
ENST00000367251.7:c.5084G>A (SYNE1)	ENSP00000356220.3:n.5084G>A
ENST00000367255.9:c.26308G>A (SYNE1)	ENSP00000356224.5:p.Glu8770Lys
ENST00000367256.9:n.10000G>A (SYNE1)
ENST00000367257.8:c.4187G>A (SYNE1)	ENSP00000356226.4:n.4187G>A
ENST00000409694.6:n.9892G>A (SYNE1)
ENST00000423061.5:c.26164G>A (SYNE1)	ENSP00000396024.1:p.Glu8722Lys
ENST00000427531.6:c.851-2744C>T (ESR1)	ENSP00000394721.2:n.851-2744C>T
ENST00000460912.6:n.2922G>A (SYNE1)
ENST00000478916.5:n.6945G>A (SYNE1)
ENST00000539504.5:c.2773G>A (SYNE1)	ENSP00000441052.1:p.Glu925Lys
NM_033071.3:c.26164G>A (SYNE1)	NP_149062.1:p.Glu8722Lys
NM_182961.3:c.26308G>A (SYNE1)	NP_892006.3:p.Glu8770Lys
XM_006715407.1:c.26455G>A (SYNE1)	XP_006715470.1:p.Glu8819Lys
XM_006715408.1:c.26443G>A (SYNE1)	XP_006715471.1:p.Glu8815Lys
XM_006715409.1:c.26434G>A (SYNE1)	XP_006715472.1:p.Glu8812Lys
XM_006715410.1:c.26413G>A (SYNE1)	XP_006715473.1:p.Glu8805Lys
XM_006715411.1:c.26404G>A (SYNE1)	XP_006715474.1:p.Glu8802Lys
XM_006715412.1:c.26398G>A (SYNE1)	XP_006715475.1:p.Glu8800Lys
XM_006715413.1:c.26386G>A (SYNE1)	XP_006715476.1:p.Glu8796Lys
XM_006715414.1:c.26383G>A (SYNE1)	XP_006715477.1:p.Glu8795Lys
XM_006715415.1:c.26344G>A (SYNE1)	XP_006715478.1:p.Glu8782Lys
XM_006715416.1:c.26329G>A (SYNE1)	XP_006715479.1:p.Glu8777Lys
XM_006715417.1:c.26314G>A (SYNE1)	XP_006715480.1:p.Glu8772Lys
XM_006715420.1:c.26302G>A (SYNE1)	XP_006715483.1:p.Glu8768Lys
XM_006715421.1:c.26299G>A (SYNE1)	XP_006715484.1:p.Glu8767Lys
XM_006715422.1:c.26296G>A (SYNE1)	XP_006715485.1:p.Glu8766Lys
XM_006715423.1:c.*119G>A (SYNE1)	XP_006715486.1:n.*119G>A
XM_006715424.1:c.*119G>A (SYNE1)	XP_006715487.1:n.*119G>A
XM_006715425.1:c.*119G>A (SYNE1)	XP_006715488.1:n.*119G>A
XM_011535641.1:c.26452G>A (SYNE1)	XP_011533943.1:p.Glu8818Lys
XM_011535642.1:c.26440G>A (SYNE1)	XP_011533944.1:p.Glu8814Lys
XM_011535643.1:c.26290G>A (SYNE1)	XP_011533945.1:p.Glu8764Lys
XM_011535644.1:c.24730G>A (SYNE1)	XP_011533946.1:p.Glu8244Lys
XM_011535645.1:c.24223G>A (SYNE1)	XP_011533947.1:p.Glu8075Lys
XM_011535647.1:c.19690G>A (SYNE1)	XP_011533949.1:p.Glu6564Lys
NM_001328100.1:c.851-2744C>T (ESR1)	NP_001315029.1:n.851-2744C>T
NM_001347701.1:c.*119G>A (SYNE1)	NP_001334630.1:n.*119G>A
NM_001347702.1:c.2842G>A (SYNE1)	NP_001334631.1:p.Glu948Lys
XM_006715408.2:c.26443G>A (SYNE1)	XP_006715471.1:p.Glu8815Lys
XM_006715410.2:c.26413G>A (SYNE1)	XP_006715473.1:p.Glu8805Lys
XM_006715412.2:c.26398G>A (SYNE1)	XP_006715475.1:p.Glu8800Lys
XM_006715413.2:c.26386G>A (SYNE1)	XP_006715476.1:p.Glu8796Lys
XM_006715415.2:c.26344G>A (SYNE1)	XP_006715478.1:p.Glu8782Lys
XM_006715416.2:c.26329G>A (SYNE1)	XP_006715479.1:p.Glu8777Lys
XM_006715417.2:c.26314G>A (SYNE1)	XP_006715480.1:p.Glu8772Lys
XM_006715420.2:c.26302G>A (SYNE1)	XP_006715483.1:p.Glu8768Lys
XM_006715421.2:c.26299G>A (SYNE1)	XP_006715484.1:p.Glu8767Lys
XM_006715423.2:c.*119G>A (SYNE1)	XP_006715486.1:n.*119G>A
XM_006715424.2:c.*119G>A (SYNE1)	XP_006715487.1:n.*119G>A
XM_006715425.2:c.*119G>A (SYNE1)	XP_006715488.1:n.*119G>A
XM_011535641.2:c.26452G>A (SYNE1)	XP_011533943.1:p.Glu8818Lys
XM_011535642.2:c.26440G>A (SYNE1)	XP_011533944.1:p.Glu8814Lys
XM_011535645.2:c.24223G>A (SYNE1)	XP_011533947.1:p.Glu8075Lys
XM_017010608.1:c.26455G>A (SYNE1)	XP_016866097.1:p.Glu8819Lys
XM_017010609.1:c.26455G>A (SYNE1)	XP_016866098.1:p.Glu8819Lys
XM_017010610.1:c.26434G>A (SYNE1)	XP_016866099.1:p.Glu8812Lys
XM_017010611.2:c.26428G>A (SYNE1)	XP_016866100.1:p.Glu8810Lys
XM_017010612.1:c.26377G>A (SYNE1)	XP_016866101.1:p.Glu8793Lys
XM_017010613.1:c.26341G>A (SYNE1)	XP_016866102.1:p.Glu8781Lys
XM_017010614.1:c.26299G>A (SYNE1)	XP_016866103.1:p.Glu8767Lys
XM_017010615.1:c.26188G>A (SYNE1)	XP_016866104.1:p.Glu8730Lys
XM_017010616.1:c.*119G>A (SYNE1)	XP_016866105.1:n.*119G>A
XM_017010617.1:c.*119G>A (SYNE1)	XP_016866106.1:n.*119G>A
XM_017010618.1:c.*119G>A (SYNE1)	XP_016866107.1:n.*119G>A
XM_017010619.1:c.24730G>A (SYNE1)	XP_016866108.1:p.Glu8244Lys
NM_182961.4:c.26308G>A (SYNE1) MANE Select	NP_892006.3:p.Glu8770Lys
NM_001328100.2:c.851-2744C>T (ESR1)	NP_001315029.1:n.851-2744C>T
NM_001347701.2:c.*119G>A (SYNE1)	NP_001334630.1:n.*119G>A
NM_001347702.2:c.2842G>A (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Glu948Lys
NM_033071.5:c.26164G>A (SYNE1)	NP_149062.2:p.Glu8722Lys