Canonical Allele Identifier: CA366088765

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443660C>G (hg19) ; chr6:g.152122525C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122525C>G , CM000668.2:g.152122525C>G	GRCh38
NC_000006.11:g.152443660C>G , CM000668.1:g.152443660C>G	GRCh37
NC_000006.10:g.152485353C>G	NCBI36
NG_012855.1:g.519875G>C
NG_008493.2:g.470835C>G
NG_012855.2:g.519875G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2839G>C (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Glu947Gln
ENST00000367255.10:c.26305G>C (SYNE1) MANE Select	ENSP00000356224.5:p.Glu8769Gln
ENST00000423061.6:c.26161G>C (SYNE1)	ENSP00000396024.1:p.Glu8721Gln
ENST00000672154.1:c.1648G>C (SYNE1)
ENST00000672169.1:c.2023G>C (SYNE1)
ENST00000673173.1:c.1890G>C (SYNE1)
ENST00000673451.1:c.2155G>C (SYNE1)	ENSP00000500189.1:n.2155G>C
ENST00000341594.9:c.25090G>C (SYNE1)	ENSP00000341887.6:p.Glu8364Gln
ENST00000347037.9:n.3053G>C (SYNE1)
ENST00000354674.4:c.2839G>C (SYNE1)	ENSP00000346701.4:p.Glu947Gln
ENST00000367251.7:c.5081G>C (SYNE1)	ENSP00000356220.3:n.5081G>C
ENST00000367255.9:c.26305G>C (SYNE1)	ENSP00000356224.5:p.Glu8769Gln
ENST00000367256.9:n.9997G>C (SYNE1)
ENST00000367257.8:c.4184G>C (SYNE1)	ENSP00000356226.4:n.4184G>C
ENST00000409694.6:n.9889G>C (SYNE1)
ENST00000423061.5:c.26161G>C (SYNE1)	ENSP00000396024.1:p.Glu8721Gln
ENST00000427531.6:c.851-2741C>G (ESR1)	ENSP00000394721.2:n.851-2741C>G
ENST00000460912.6:n.2919G>C (SYNE1)
ENST00000478916.5:n.6942G>C (SYNE1)
ENST00000539504.5:c.2770G>C (SYNE1)	ENSP00000441052.1:p.Glu924Gln
NM_033071.3:c.26161G>C (SYNE1)	NP_149062.1:p.Glu8721Gln
NM_182961.3:c.26305G>C (SYNE1)	NP_892006.3:p.Glu8769Gln
XM_006715407.1:c.26452G>C (SYNE1)	XP_006715470.1:p.Glu8818Gln
XM_006715408.1:c.26440G>C (SYNE1)	XP_006715471.1:p.Glu8814Gln
XM_006715409.1:c.26431G>C (SYNE1)	XP_006715472.1:p.Glu8811Gln
XM_006715410.1:c.26410G>C (SYNE1)	XP_006715473.1:p.Glu8804Gln
XM_006715411.1:c.26401G>C (SYNE1)	XP_006715474.1:p.Glu8801Gln
XM_006715412.1:c.26395G>C (SYNE1)	XP_006715475.1:p.Glu8799Gln
XM_006715413.1:c.26383G>C (SYNE1)	XP_006715476.1:p.Glu8795Gln
XM_006715414.1:c.26380G>C (SYNE1)	XP_006715477.1:p.Glu8794Gln
XM_006715415.1:c.26341G>C (SYNE1)	XP_006715478.1:p.Glu8781Gln
XM_006715416.1:c.26326G>C (SYNE1)	XP_006715479.1:p.Glu8776Gln
XM_006715417.1:c.26311G>C (SYNE1)	XP_006715480.1:p.Glu8771Gln
XM_006715420.1:c.26299G>C (SYNE1)	XP_006715483.1:p.Glu8767Gln
XM_006715421.1:c.26296G>C (SYNE1)	XP_006715484.1:p.Glu8766Gln
XM_006715422.1:c.26293G>C (SYNE1)	XP_006715485.1:p.Glu8765Gln
XM_006715423.1:c.*116G>C (SYNE1)	XP_006715486.1:n.*116G>C
XM_006715424.1:c.*116G>C (SYNE1)	XP_006715487.1:n.*116G>C
XM_006715425.1:c.*116G>C (SYNE1)	XP_006715488.1:n.*116G>C
XM_011535641.1:c.26449G>C (SYNE1)	XP_011533943.1:p.Glu8817Gln
XM_011535642.1:c.26437G>C (SYNE1)	XP_011533944.1:p.Glu8813Gln
XM_011535643.1:c.26287G>C (SYNE1)	XP_011533945.1:p.Glu8763Gln
XM_011535644.1:c.24727G>C (SYNE1)	XP_011533946.1:p.Glu8243Gln
XM_011535645.1:c.24220G>C (SYNE1)	XP_011533947.1:p.Glu8074Gln
XM_011535647.1:c.19687G>C (SYNE1)	XP_011533949.1:p.Glu6563Gln
NM_001328100.1:c.851-2741C>G (ESR1)	NP_001315029.1:n.851-2741C>G
NM_001347701.1:c.*116G>C (SYNE1)	NP_001334630.1:n.*116G>C
NM_001347702.1:c.2839G>C (SYNE1)	NP_001334631.1:p.Glu947Gln
XM_006715408.2:c.26440G>C (SYNE1)	XP_006715471.1:p.Glu8814Gln
XM_006715410.2:c.26410G>C (SYNE1)	XP_006715473.1:p.Glu8804Gln
XM_006715412.2:c.26395G>C (SYNE1)	XP_006715475.1:p.Glu8799Gln
XM_006715413.2:c.26383G>C (SYNE1)	XP_006715476.1:p.Glu8795Gln
XM_006715415.2:c.26341G>C (SYNE1)	XP_006715478.1:p.Glu8781Gln
XM_006715416.2:c.26326G>C (SYNE1)	XP_006715479.1:p.Glu8776Gln
XM_006715417.2:c.26311G>C (SYNE1)	XP_006715480.1:p.Glu8771Gln
XM_006715420.2:c.26299G>C (SYNE1)	XP_006715483.1:p.Glu8767Gln
XM_006715421.2:c.26296G>C (SYNE1)	XP_006715484.1:p.Glu8766Gln
XM_006715423.2:c.*116G>C (SYNE1)	XP_006715486.1:n.*116G>C
XM_006715424.2:c.*116G>C (SYNE1)	XP_006715487.1:n.*116G>C
XM_006715425.2:c.*116G>C (SYNE1)	XP_006715488.1:n.*116G>C
XM_011535641.2:c.26449G>C (SYNE1)	XP_011533943.1:p.Glu8817Gln
XM_011535642.2:c.26437G>C (SYNE1)	XP_011533944.1:p.Glu8813Gln
XM_011535645.2:c.24220G>C (SYNE1)	XP_011533947.1:p.Glu8074Gln
XM_017010608.1:c.26452G>C (SYNE1)	XP_016866097.1:p.Glu8818Gln
XM_017010609.1:c.26452G>C (SYNE1)	XP_016866098.1:p.Glu8818Gln
XM_017010610.1:c.26431G>C (SYNE1)	XP_016866099.1:p.Glu8811Gln
XM_017010611.2:c.26425G>C (SYNE1)	XP_016866100.1:p.Glu8809Gln
XM_017010612.1:c.26374G>C (SYNE1)	XP_016866101.1:p.Glu8792Gln
XM_017010613.1:c.26338G>C (SYNE1)	XP_016866102.1:p.Glu8780Gln
XM_017010614.1:c.26296G>C (SYNE1)	XP_016866103.1:p.Glu8766Gln
XM_017010615.1:c.26185G>C (SYNE1)	XP_016866104.1:p.Glu8729Gln
XM_017010616.1:c.*116G>C (SYNE1)	XP_016866105.1:n.*116G>C
XM_017010617.1:c.*116G>C (SYNE1)	XP_016866106.1:n.*116G>C
XM_017010618.1:c.*116G>C (SYNE1)	XP_016866107.1:n.*116G>C
XM_017010619.1:c.24727G>C (SYNE1)	XP_016866108.1:p.Glu8243Gln
NM_182961.4:c.26305G>C (SYNE1) MANE Select	NP_892006.3:p.Glu8769Gln
NM_001328100.2:c.851-2741C>G (ESR1)	NP_001315029.1:n.851-2741C>G
NM_001347701.2:c.*116G>C (SYNE1)	NP_001334630.1:n.*116G>C
NM_001347702.2:c.2839G>C (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Glu947Gln
NM_033071.5:c.26161G>C (SYNE1)	NP_149062.2:p.Glu8721Gln