Canonical Allele Identifier: CA366088458

Gene: SYNE1 ESR1

Linked Data

• dbSNP Id: rs2051619497
• gnomAD v3: 6-152122461-T-G
• gnomAD v4: 6-152122461-T-G
• MyVariant Identifiers: chr6:g.152443596T>G (hg19) ; chr6:g.152122461T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122461T>G , CM000668.2:g.152122461T>G	GRCh38
NC_000006.11:g.152443596T>G , CM000668.1:g.152443596T>G	GRCh37
NC_000006.10:g.152485289T>G	NCBI36
NG_012855.1:g.519939A>C
NG_008493.2:g.470771T>G
NG_012855.2:g.519939A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2903A>C (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Tyr968Ser
ENST00000367255.10:c.26369A>C (SYNE1) MANE Select	ENSP00000356224.5:p.Tyr8790Ser
ENST00000423061.6:c.26225A>C (SYNE1)	ENSP00000396024.1:p.Tyr8742Ser
ENST00000672154.1:c.1712A>C (SYNE1)
ENST00000672169.1:c.2087A>C (SYNE1)
ENST00000673173.1:c.1954A>C (SYNE1)
ENST00000673451.1:c.2219A>C (SYNE1)	ENSP00000500189.1:n.2219A>C
ENST00000341594.9:c.25154A>C (SYNE1)	ENSP00000341887.6:p.Tyr8385Ser
ENST00000347037.9:n.3117A>C (SYNE1)
ENST00000354674.4:c.2903A>C (SYNE1)	ENSP00000346701.4:p.Tyr968Ser
ENST00000367251.7:c.5145A>C (SYNE1)	ENSP00000356220.3:n.5145A>C
ENST00000367255.9:c.26369A>C (SYNE1)	ENSP00000356224.5:p.Tyr8790Ser
ENST00000367256.9:n.10061A>C (SYNE1)
ENST00000367257.8:c.4248A>C (SYNE1)	ENSP00000356226.4:n.4248A>C
ENST00000409694.6:n.9953A>C (SYNE1)
ENST00000423061.5:c.26225A>C (SYNE1)	ENSP00000396024.1:p.Tyr8742Ser
ENST00000427531.6:c.851-2805T>G (ESR1)	ENSP00000394721.2:n.851-2805T>G
ENST00000460912.6:n.2983A>C (SYNE1)
ENST00000478916.5:n.7006A>C (SYNE1)
ENST00000539504.5:c.2834A>C (SYNE1)	ENSP00000441052.1:p.Tyr945Ser
NM_033071.3:c.26225A>C (SYNE1)	NP_149062.1:p.Tyr8742Ser
NM_182961.3:c.26369A>C (SYNE1)	NP_892006.3:p.Tyr8790Ser
XM_006715407.1:c.26516A>C (SYNE1)	XP_006715470.1:p.Tyr8839Ser
XM_006715408.1:c.26504A>C (SYNE1)	XP_006715471.1:p.Tyr8835Ser
XM_006715409.1:c.26495A>C (SYNE1)	XP_006715472.1:p.Tyr8832Ser
XM_006715410.1:c.26474A>C (SYNE1)	XP_006715473.1:p.Tyr8825Ser
XM_006715411.1:c.26465A>C (SYNE1)	XP_006715474.1:p.Tyr8822Ser
XM_006715412.1:c.26459A>C (SYNE1)	XP_006715475.1:p.Tyr8820Ser
XM_006715413.1:c.26447A>C (SYNE1)	XP_006715476.1:p.Tyr8816Ser
XM_006715414.1:c.26444A>C (SYNE1)	XP_006715477.1:p.Tyr8815Ser
XM_006715415.1:c.26405A>C (SYNE1)	XP_006715478.1:p.Tyr8802Ser
XM_006715416.1:c.26390A>C (SYNE1)	XP_006715479.1:p.Tyr8797Ser
XM_006715417.1:c.26375A>C (SYNE1)	XP_006715480.1:p.Tyr8792Ser
XM_006715420.1:c.26363A>C (SYNE1)	XP_006715483.1:p.Tyr8788Ser
XM_006715421.1:c.26360A>C (SYNE1)	XP_006715484.1:p.Tyr8787Ser
XM_006715422.1:c.26357A>C (SYNE1)	XP_006715485.1:p.Tyr8786Ser
XM_006715423.1:c.*180A>C (SYNE1)	XP_006715486.1:n.*180A>C
XM_006715424.1:c.*180A>C (SYNE1)	XP_006715487.1:n.*180A>C
XM_006715425.1:c.*180A>C (SYNE1)	XP_006715488.1:n.*180A>C
XM_011535641.1:c.26513A>C (SYNE1)	XP_011533943.1:p.Tyr8838Ser
XM_011535642.1:c.26501A>C (SYNE1)	XP_011533944.1:p.Tyr8834Ser
XM_011535643.1:c.26351A>C (SYNE1)	XP_011533945.1:p.Tyr8784Ser
XM_011535644.1:c.24791A>C (SYNE1)	XP_011533946.1:p.Tyr8264Ser
XM_011535645.1:c.24284A>C (SYNE1)	XP_011533947.1:p.Tyr8095Ser
XM_011535647.1:c.19751A>C (SYNE1)	XP_011533949.1:p.Tyr6584Ser
NM_001328100.1:c.851-2805T>G (ESR1)	NP_001315029.1:n.851-2805T>G
NM_001347701.1:c.*180A>C (SYNE1)	NP_001334630.1:n.*180A>C
NM_001347702.1:c.2903A>C (SYNE1)	NP_001334631.1:p.Tyr968Ser
XM_006715408.2:c.26504A>C (SYNE1)	XP_006715471.1:p.Tyr8835Ser
XM_006715410.2:c.26474A>C (SYNE1)	XP_006715473.1:p.Tyr8825Ser
XM_006715412.2:c.26459A>C (SYNE1)	XP_006715475.1:p.Tyr8820Ser
XM_006715413.2:c.26447A>C (SYNE1)	XP_006715476.1:p.Tyr8816Ser
XM_006715415.2:c.26405A>C (SYNE1)	XP_006715478.1:p.Tyr8802Ser
XM_006715416.2:c.26390A>C (SYNE1)	XP_006715479.1:p.Tyr8797Ser
XM_006715417.2:c.26375A>C (SYNE1)	XP_006715480.1:p.Tyr8792Ser
XM_006715420.2:c.26363A>C (SYNE1)	XP_006715483.1:p.Tyr8788Ser
XM_006715421.2:c.26360A>C (SYNE1)	XP_006715484.1:p.Tyr8787Ser
XM_006715423.2:c.*180A>C (SYNE1)	XP_006715486.1:n.*180A>C
XM_006715424.2:c.*180A>C (SYNE1)	XP_006715487.1:n.*180A>C
XM_006715425.2:c.*180A>C (SYNE1)	XP_006715488.1:n.*180A>C
XM_011535641.2:c.26513A>C (SYNE1)	XP_011533943.1:p.Tyr8838Ser
XM_011535642.2:c.26501A>C (SYNE1)	XP_011533944.1:p.Tyr8834Ser
XM_011535645.2:c.24284A>C (SYNE1)	XP_011533947.1:p.Tyr8095Ser
XM_017010608.1:c.26516A>C (SYNE1)	XP_016866097.1:p.Tyr8839Ser
XM_017010609.1:c.26516A>C (SYNE1)	XP_016866098.1:p.Tyr8839Ser
XM_017010610.1:c.26495A>C (SYNE1)	XP_016866099.1:p.Tyr8832Ser
XM_017010611.2:c.26489A>C (SYNE1)	XP_016866100.1:p.Tyr8830Ser
XM_017010612.1:c.26438A>C (SYNE1)	XP_016866101.1:p.Tyr8813Ser
XM_017010613.1:c.26402A>C (SYNE1)	XP_016866102.1:p.Tyr8801Ser
XM_017010614.1:c.26360A>C (SYNE1)	XP_016866103.1:p.Tyr8787Ser
XM_017010615.1:c.26249A>C (SYNE1)	XP_016866104.1:p.Tyr8750Ser
XM_017010616.1:c.*180A>C (SYNE1)	XP_016866105.1:n.*180A>C
XM_017010617.1:c.*180A>C (SYNE1)	XP_016866106.1:n.*180A>C
XM_017010618.1:c.*180A>C (SYNE1)	XP_016866107.1:n.*180A>C
XM_017010619.1:c.24791A>C (SYNE1)	XP_016866108.1:p.Tyr8264Ser
NM_182961.4:c.26369A>C (SYNE1) MANE Select	NP_892006.3:p.Tyr8790Ser
NM_001328100.2:c.851-2805T>G (ESR1)	NP_001315029.1:n.851-2805T>G
NM_001347701.2:c.*180A>C (SYNE1)	NP_001334630.1:n.*180A>C
NM_001347702.2:c.2903A>C (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Tyr968Ser
NM_033071.5:c.26225A>C (SYNE1)	NP_149062.2:p.Tyr8742Ser