Canonical Allele Identifier: CA366089270

Gene: SYNE1 ESR1

Linked Data

• dbSNP Id: rs2051690265
• gnomAD v4: 6-152122670-T-C
• MyVariant Identifiers: chr6:g.152443805T>C (hg19) ; chr6:g.152122670T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122670T>C , CM000668.2:g.152122670T>C	GRCh38
NC_000006.11:g.152443805T>C , CM000668.1:g.152443805T>C	GRCh37
NC_000006.10:g.152485498T>C	NCBI36
NG_012855.1:g.519730A>G
NG_008493.2:g.470980T>C
NG_012855.2:g.519730A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2694A>G (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Thr898=
ENST00000367255.10:c.26160A>G (SYNE1) MANE Select	ENSP00000356224.5:p.Thr8720=
ENST00000423061.6:c.26016A>G (SYNE1)	ENSP00000396024.1:p.Thr8672=
ENST00000672154.1:c.1503A>G (SYNE1)
ENST00000672169.1:c.1878A>G (SYNE1)
ENST00000673173.1:c.1745A>G (SYNE1)
ENST00000673451.1:c.2010A>G (SYNE1)	ENSP00000500189.1:n.2010A>G
ENST00000341594.9:c.24945A>G (SYNE1)	ENSP00000341887.6:p.Thr8315=
ENST00000347037.9:n.2908A>G (SYNE1)
ENST00000354674.4:c.2694A>G (SYNE1)	ENSP00000346701.4:p.Thr898=
ENST00000367251.7:c.4936A>G (SYNE1)	ENSP00000356220.3:p.Lys1646Glu
ENST00000367255.9:c.26160A>G (SYNE1)	ENSP00000356224.5:p.Thr8720=
ENST00000367256.9:n.9852A>G (SYNE1)
ENST00000367257.8:c.4039A>G (SYNE1)	ENSP00000356226.4:p.Lys1347Glu
ENST00000409694.6:n.9744A>G (SYNE1)
ENST00000423061.5:c.26016A>G (SYNE1)	ENSP00000396024.1:p.Thr8672=
ENST00000427531.6:c.851-2596T>C (ESR1)	ENSP00000394721.2:n.851-2596T>C
ENST00000460912.6:n.2774A>G (SYNE1)
ENST00000478916.5:n.6797A>G (SYNE1)
ENST00000536990.5:n.2938A>G (SYNE1)
ENST00000539504.5:c.2625A>G (SYNE1)	ENSP00000441052.1:p.Thr875=
NM_033071.3:c.26016A>G (SYNE1)	NP_149062.1:p.Thr8672=
NM_182961.3:c.26160A>G (SYNE1)	NP_892006.3:p.Thr8720=
XM_006715407.1:c.26307A>G (SYNE1)	XP_006715470.1:p.Thr8769=
XM_006715408.1:c.26295A>G (SYNE1)	XP_006715471.1:p.Thr8765=
XM_006715409.1:c.26286A>G (SYNE1)	XP_006715472.1:p.Thr8762=
XM_006715410.1:c.26265A>G (SYNE1)	XP_006715473.1:p.Thr8755=
XM_006715411.1:c.26256A>G (SYNE1)	XP_006715474.1:p.Thr8752=
XM_006715412.1:c.26250A>G (SYNE1)	XP_006715475.1:p.Thr8750=
XM_006715413.1:c.26238A>G (SYNE1)	XP_006715476.1:p.Thr8746=
XM_006715414.1:c.26235A>G (SYNE1)	XP_006715477.1:p.Thr8745=
XM_006715415.1:c.26196A>G (SYNE1)	XP_006715478.1:p.Thr8732=
XM_006715416.1:c.26181A>G (SYNE1)	XP_006715479.1:p.Thr8727=
XM_006715417.1:c.26166A>G (SYNE1)	XP_006715480.1:p.Thr8722=
XM_006715420.1:c.26154A>G (SYNE1)	XP_006715483.1:p.Thr8718=
XM_006715421.1:c.26151A>G (SYNE1)	XP_006715484.1:p.Thr8717=
XM_006715422.1:c.26148A>G (SYNE1)	XP_006715485.1:p.Thr8716=
XM_006715423.1:c.26248A>G (SYNE1)	XP_006715486.1:p.Lys8750Glu
XM_006715424.1:c.26206A>G (SYNE1)	XP_006715487.1:p.Lys8736Glu
XM_006715425.1:c.26137A>G (SYNE1)	XP_006715488.1:p.Lys8713Glu
XM_011535641.1:c.26304A>G (SYNE1)	XP_011533943.1:p.Thr8768=
XM_011535642.1:c.26292A>G (SYNE1)	XP_011533944.1:p.Thr8764=
XM_011535643.1:c.26142A>G (SYNE1)	XP_011533945.1:p.Thr8714=
XM_011535644.1:c.24582A>G (SYNE1)	XP_011533946.1:p.Thr8194=
XM_011535645.1:c.24075A>G (SYNE1)	XP_011533947.1:p.Thr8025=
XM_011535647.1:c.19542A>G (SYNE1)	XP_011533949.1:p.Thr6514=
NM_001328100.1:c.851-2596T>C (ESR1)	NP_001315029.1:n.851-2596T>C
NM_001347701.1:c.2707A>G (SYNE1)	NP_001334630.1:p.Lys903Glu
NM_001347702.1:c.2694A>G (SYNE1)	NP_001334631.1:p.Thr898=
XM_006715408.2:c.26295A>G (SYNE1)	XP_006715471.1:p.Thr8765=
XM_006715410.2:c.26265A>G (SYNE1)	XP_006715473.1:p.Thr8755=
XM_006715412.2:c.26250A>G (SYNE1)	XP_006715475.1:p.Thr8750=
XM_006715413.2:c.26238A>G (SYNE1)	XP_006715476.1:p.Thr8746=
XM_006715415.2:c.26196A>G (SYNE1)	XP_006715478.1:p.Thr8732=
XM_006715416.2:c.26181A>G (SYNE1)	XP_006715479.1:p.Thr8727=
XM_006715417.2:c.26166A>G (SYNE1)	XP_006715480.1:p.Thr8722=
XM_006715420.2:c.26154A>G (SYNE1)	XP_006715483.1:p.Thr8718=
XM_006715421.2:c.26151A>G (SYNE1)	XP_006715484.1:p.Thr8717=
XM_006715423.2:c.26248A>G (SYNE1)	XP_006715486.1:p.Lys8750Glu
XM_006715424.2:c.26206A>G (SYNE1)	XP_006715487.1:p.Lys8736Glu
XM_006715425.2:c.26137A>G (SYNE1)	XP_006715488.1:p.Lys8713Glu
XM_011535641.2:c.26304A>G (SYNE1)	XP_011533943.1:p.Thr8768=
XM_011535642.2:c.26292A>G (SYNE1)	XP_011533944.1:p.Thr8764=
XM_011535645.2:c.24075A>G (SYNE1)	XP_011533947.1:p.Thr8025=
XM_017010608.1:c.26307A>G (SYNE1)	XP_016866097.1:p.Thr8769=
XM_017010609.1:c.26307A>G (SYNE1)	XP_016866098.1:p.Thr8769=
XM_017010610.1:c.26286A>G (SYNE1)	XP_016866099.1:p.Thr8762=
XM_017010611.2:c.26280A>G (SYNE1)	XP_016866100.1:p.Thr8760=
XM_017010612.1:c.26229A>G (SYNE1)	XP_016866101.1:p.Thr8743=
XM_017010613.1:c.26193A>G (SYNE1)	XP_016866102.1:p.Thr8731=
XM_017010614.1:c.26151A>G (SYNE1)	XP_016866103.1:p.Thr8717=
XM_017010615.1:c.26040A>G (SYNE1)	XP_016866104.1:p.Thr8680=
XM_017010616.1:c.26179A>G (SYNE1)	XP_016866105.1:p.Lys8727Glu
XM_017010617.1:c.26134A>G (SYNE1)	XP_016866106.1:p.Lys8712Glu
XM_017010618.1:c.26122A>G (SYNE1)	XP_016866107.1:p.Lys8708Glu
XM_017010619.1:c.24582A>G (SYNE1)	XP_016866108.1:p.Thr8194=
NM_182961.4:c.26160A>G (SYNE1) MANE Select	NP_892006.3:p.Thr8720=
NM_001328100.2:c.851-2596T>C (ESR1)	NP_001315029.1:n.851-2596T>C
NM_001347701.2:c.2707A>G (SYNE1)	NP_001334630.1:p.Lys903Glu
NM_001347702.2:c.2694A>G (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Thr898=
NM_033071.5:c.26016A>G (SYNE1)	NP_149062.2:p.Thr8672=