Canonical Allele Identifier: CA366088745

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443657C>A (hg19) ; chr6:g.152122522C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2842G>T (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Glu948Ter
ENST00000367255.10:c.26308G>T (SYNE1) MANE Select	ENSP00000356224.5:p.Glu8770Ter
ENST00000423061.6:c.26164G>T (SYNE1)	ENSP00000396024.1:p.Glu8722Ter
ENST00000672154.1:c.1651G>T (SYNE1)
ENST00000672169.1:c.2026G>T (SYNE1)
ENST00000673173.1:c.1893G>T (SYNE1)
ENST00000673451.1:c.2158G>T (SYNE1)	ENSP00000500189.1:n.2158G>T
ENST00000341594.9:c.25093G>T (SYNE1)	ENSP00000341887.6:p.Glu8365Ter
ENST00000347037.9:n.3056G>T (SYNE1)
ENST00000354674.4:c.2842G>T (SYNE1)	ENSP00000346701.4:p.Glu948Ter
ENST00000367251.7:c.5084G>T (SYNE1)	ENSP00000356220.3:n.5084G>T
ENST00000367255.9:c.26308G>T (SYNE1)	ENSP00000356224.5:p.Glu8770Ter
ENST00000367256.9:n.10000G>T (SYNE1)
ENST00000367257.8:c.4187G>T (SYNE1)	ENSP00000356226.4:n.4187G>T
ENST00000409694.6:n.9892G>T (SYNE1)
ENST00000423061.5:c.26164G>T (SYNE1)	ENSP00000396024.1:p.Glu8722Ter
ENST00000427531.6:c.851-2744C>A (ESR1)	ENSP00000394721.2:n.851-2744C>A
ENST00000460912.6:n.2922G>T (SYNE1)
ENST00000478916.5:n.6945G>T (SYNE1)
ENST00000539504.5:c.2773G>T (SYNE1)	ENSP00000441052.1:p.Glu925Ter
NM_033071.3:c.26164G>T (SYNE1)	NP_149062.1:p.Glu8722Ter
NM_182961.3:c.26308G>T (SYNE1)	NP_892006.3:p.Glu8770Ter
XM_006715407.1:c.26455G>T (SYNE1)	XP_006715470.1:p.Glu8819Ter
XM_006715408.1:c.26443G>T (SYNE1)	XP_006715471.1:p.Glu8815Ter
XM_006715409.1:c.26434G>T (SYNE1)	XP_006715472.1:p.Glu8812Ter
XM_006715410.1:c.26413G>T (SYNE1)	XP_006715473.1:p.Glu8805Ter
XM_006715411.1:c.26404G>T (SYNE1)	XP_006715474.1:p.Glu8802Ter
XM_006715412.1:c.26398G>T (SYNE1)	XP_006715475.1:p.Glu8800Ter
XM_006715413.1:c.26386G>T (SYNE1)	XP_006715476.1:p.Glu8796Ter
XM_006715414.1:c.26383G>T (SYNE1)	XP_006715477.1:p.Glu8795Ter
XM_006715415.1:c.26344G>T (SYNE1)	XP_006715478.1:p.Glu8782Ter
XM_006715416.1:c.26329G>T (SYNE1)	XP_006715479.1:p.Glu8777Ter
XM_006715417.1:c.26314G>T (SYNE1)	XP_006715480.1:p.Glu8772Ter
XM_006715420.1:c.26302G>T (SYNE1)	XP_006715483.1:p.Glu8768Ter
XM_006715421.1:c.26299G>T (SYNE1)	XP_006715484.1:p.Glu8767Ter
XM_006715422.1:c.26296G>T (SYNE1)	XP_006715485.1:p.Glu8766Ter
XM_006715423.1:c.*119G>T (SYNE1)	XP_006715486.1:n.*119G>T
XM_006715424.1:c.*119G>T (SYNE1)	XP_006715487.1:n.*119G>T
XM_006715425.1:c.*119G>T (SYNE1)	XP_006715488.1:n.*119G>T
XM_011535641.1:c.26452G>T (SYNE1)	XP_011533943.1:p.Glu8818Ter
XM_011535642.1:c.26440G>T (SYNE1)	XP_011533944.1:p.Glu8814Ter
XM_011535643.1:c.26290G>T (SYNE1)	XP_011533945.1:p.Glu8764Ter
XM_011535644.1:c.24730G>T (SYNE1)	XP_011533946.1:p.Glu8244Ter
XM_011535645.1:c.24223G>T (SYNE1)	XP_011533947.1:p.Glu8075Ter
XM_011535647.1:c.19690G>T (SYNE1)	XP_011533949.1:p.Glu6564Ter
NM_001328100.1:c.851-2744C>A (ESR1)	NP_001315029.1:n.851-2744C>A
NM_001347701.1:c.*119G>T (SYNE1)	NP_001334630.1:n.*119G>T
NM_001347702.1:c.2842G>T (SYNE1)	NP_001334631.1:p.Glu948Ter
XM_006715408.2:c.26443G>T (SYNE1)	XP_006715471.1:p.Glu8815Ter
XM_006715410.2:c.26413G>T (SYNE1)	XP_006715473.1:p.Glu8805Ter
XM_006715412.2:c.26398G>T (SYNE1)	XP_006715475.1:p.Glu8800Ter
XM_006715413.2:c.26386G>T (SYNE1)	XP_006715476.1:p.Glu8796Ter
XM_006715415.2:c.26344G>T (SYNE1)	XP_006715478.1:p.Glu8782Ter
XM_006715416.2:c.26329G>T (SYNE1)	XP_006715479.1:p.Glu8777Ter
XM_006715417.2:c.26314G>T (SYNE1)	XP_006715480.1:p.Glu8772Ter
XM_006715420.2:c.26302G>T (SYNE1)	XP_006715483.1:p.Glu8768Ter
XM_006715421.2:c.26299G>T (SYNE1)	XP_006715484.1:p.Glu8767Ter
XM_006715423.2:c.*119G>T (SYNE1)	XP_006715486.1:n.*119G>T
XM_006715424.2:c.*119G>T (SYNE1)	XP_006715487.1:n.*119G>T
XM_006715425.2:c.*119G>T (SYNE1)	XP_006715488.1:n.*119G>T
XM_011535641.2:c.26452G>T (SYNE1)	XP_011533943.1:p.Glu8818Ter
XM_011535642.2:c.26440G>T (SYNE1)	XP_011533944.1:p.Glu8814Ter
XM_011535645.2:c.24223G>T (SYNE1)	XP_011533947.1:p.Glu8075Ter
XM_017010608.1:c.26455G>T (SYNE1)	XP_016866097.1:p.Glu8819Ter
XM_017010609.1:c.26455G>T (SYNE1)	XP_016866098.1:p.Glu8819Ter
XM_017010610.1:c.26434G>T (SYNE1)	XP_016866099.1:p.Glu8812Ter
XM_017010611.2:c.26428G>T (SYNE1)	XP_016866100.1:p.Glu8810Ter
XM_017010612.1:c.26377G>T (SYNE1)	XP_016866101.1:p.Glu8793Ter
XM_017010613.1:c.26341G>T (SYNE1)	XP_016866102.1:p.Glu8781Ter
XM_017010614.1:c.26299G>T (SYNE1)	XP_016866103.1:p.Glu8767Ter
XM_017010615.1:c.26188G>T (SYNE1)	XP_016866104.1:p.Glu8730Ter
XM_017010616.1:c.*119G>T (SYNE1)	XP_016866105.1:n.*119G>T
XM_017010617.1:c.*119G>T (SYNE1)	XP_016866106.1:n.*119G>T
XM_017010618.1:c.*119G>T (SYNE1)	XP_016866107.1:n.*119G>T
XM_017010619.1:c.24730G>T (SYNE1)	XP_016866108.1:p.Glu8244Ter
NM_182961.4:c.26308G>T (SYNE1) MANE Select	NP_892006.3:p.Glu8770Ter
NM_001328100.2:c.851-2744C>A (ESR1)	NP_001315029.1:n.851-2744C>A
NM_001347701.2:c.*119G>T (SYNE1)	NP_001334630.1:n.*119G>T
NM_001347702.2:c.2842G>T (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Glu948Ter
NM_033071.5:c.26164G>T (SYNE1)	NP_149062.2:p.Glu8722Ter