Canonical Allele Identifier: CA366088564

Gene: SYNE1 ESR1

Linked Data

• dbSNP Id: rs1331611436
• gnomAD v2: 6-152443618-A-C
• gnomAD v4: 6-152122483-A-C
• MyVariant Identifiers: chr6:g.152443618A>C (hg19) ; chr6:g.152122483A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122483A>C , CM000668.2:g.152122483A>C	GRCh38
NC_000006.11:g.152443618A>C , CM000668.1:g.152443618A>C	GRCh37
NC_000006.10:g.152485311A>C	NCBI36
NG_012855.1:g.519917T>G
NG_008493.2:g.470793A>C
NG_012855.2:g.519917T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2881T>G (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Ser961Ala
ENST00000367255.10:c.26347T>G (SYNE1) MANE Select	ENSP00000356224.5:p.Ser8783Ala
ENST00000423061.6:c.26203T>G (SYNE1)	ENSP00000396024.1:p.Ser8735Ala
ENST00000672154.1:c.1690T>G (SYNE1)
ENST00000672169.1:c.2065T>G (SYNE1)
ENST00000673173.1:c.1932T>G (SYNE1)
ENST00000673451.1:c.2197T>G (SYNE1)	ENSP00000500189.1:n.2197T>G
ENST00000341594.9:c.25132T>G (SYNE1)	ENSP00000341887.6:p.Ser8378Ala
ENST00000347037.9:n.3095T>G (SYNE1)
ENST00000354674.4:c.2881T>G (SYNE1)	ENSP00000346701.4:p.Ser961Ala
ENST00000367251.7:c.5123T>G (SYNE1)	ENSP00000356220.3:n.5123T>G
ENST00000367255.9:c.26347T>G (SYNE1)	ENSP00000356224.5:p.Ser8783Ala
ENST00000367256.9:n.10039T>G (SYNE1)
ENST00000367257.8:c.4226T>G (SYNE1)	ENSP00000356226.4:n.4226T>G
ENST00000409694.6:n.9931T>G (SYNE1)
ENST00000423061.5:c.26203T>G (SYNE1)	ENSP00000396024.1:p.Ser8735Ala
ENST00000427531.6:c.851-2783A>C (ESR1)	ENSP00000394721.2:n.851-2783A>C
ENST00000460912.6:n.2961T>G (SYNE1)
ENST00000478916.5:n.6984T>G (SYNE1)
ENST00000539504.5:c.2812T>G (SYNE1)	ENSP00000441052.1:p.Ser938Ala
NM_033071.3:c.26203T>G (SYNE1)	NP_149062.1:p.Ser8735Ala
NM_182961.3:c.26347T>G (SYNE1)	NP_892006.3:p.Ser8783Ala
XM_006715407.1:c.26494T>G (SYNE1)	XP_006715470.1:p.Ser8832Ala
XM_006715408.1:c.26482T>G (SYNE1)	XP_006715471.1:p.Ser8828Ala
XM_006715409.1:c.26473T>G (SYNE1)	XP_006715472.1:p.Ser8825Ala
XM_006715410.1:c.26452T>G (SYNE1)	XP_006715473.1:p.Ser8818Ala
XM_006715411.1:c.26443T>G (SYNE1)	XP_006715474.1:p.Ser8815Ala
XM_006715412.1:c.26437T>G (SYNE1)	XP_006715475.1:p.Ser8813Ala
XM_006715413.1:c.26425T>G (SYNE1)	XP_006715476.1:p.Ser8809Ala
XM_006715414.1:c.26422T>G (SYNE1)	XP_006715477.1:p.Ser8808Ala
XM_006715415.1:c.26383T>G (SYNE1)	XP_006715478.1:p.Ser8795Ala
XM_006715416.1:c.26368T>G (SYNE1)	XP_006715479.1:p.Ser8790Ala
XM_006715417.1:c.26353T>G (SYNE1)	XP_006715480.1:p.Ser8785Ala
XM_006715420.1:c.26341T>G (SYNE1)	XP_006715483.1:p.Ser8781Ala
XM_006715421.1:c.26338T>G (SYNE1)	XP_006715484.1:p.Ser8780Ala
XM_006715422.1:c.26335T>G (SYNE1)	XP_006715485.1:p.Ser8779Ala
XM_006715423.1:c.*158T>G (SYNE1)	XP_006715486.1:n.*158T>G
XM_006715424.1:c.*158T>G (SYNE1)	XP_006715487.1:n.*158T>G
XM_006715425.1:c.*158T>G (SYNE1)	XP_006715488.1:n.*158T>G
XM_011535641.1:c.26491T>G (SYNE1)	XP_011533943.1:p.Ser8831Ala
XM_011535642.1:c.26479T>G (SYNE1)	XP_011533944.1:p.Ser8827Ala
XM_011535643.1:c.26329T>G (SYNE1)	XP_011533945.1:p.Ser8777Ala
XM_011535644.1:c.24769T>G (SYNE1)	XP_011533946.1:p.Ser8257Ala
XM_011535645.1:c.24262T>G (SYNE1)	XP_011533947.1:p.Ser8088Ala
XM_011535647.1:c.19729T>G (SYNE1)	XP_011533949.1:p.Ser6577Ala
NM_001328100.1:c.851-2783A>C (ESR1)	NP_001315029.1:n.851-2783A>C
NM_001347701.1:c.*158T>G (SYNE1)	NP_001334630.1:n.*158T>G
NM_001347702.1:c.2881T>G (SYNE1)	NP_001334631.1:p.Ser961Ala
XM_006715408.2:c.26482T>G (SYNE1)	XP_006715471.1:p.Ser8828Ala
XM_006715410.2:c.26452T>G (SYNE1)	XP_006715473.1:p.Ser8818Ala
XM_006715412.2:c.26437T>G (SYNE1)	XP_006715475.1:p.Ser8813Ala
XM_006715413.2:c.26425T>G (SYNE1)	XP_006715476.1:p.Ser8809Ala
XM_006715415.2:c.26383T>G (SYNE1)	XP_006715478.1:p.Ser8795Ala
XM_006715416.2:c.26368T>G (SYNE1)	XP_006715479.1:p.Ser8790Ala
XM_006715417.2:c.26353T>G (SYNE1)	XP_006715480.1:p.Ser8785Ala
XM_006715420.2:c.26341T>G (SYNE1)	XP_006715483.1:p.Ser8781Ala
XM_006715421.2:c.26338T>G (SYNE1)	XP_006715484.1:p.Ser8780Ala
XM_006715423.2:c.*158T>G (SYNE1)	XP_006715486.1:n.*158T>G
XM_006715424.2:c.*158T>G (SYNE1)	XP_006715487.1:n.*158T>G
XM_006715425.2:c.*158T>G (SYNE1)	XP_006715488.1:n.*158T>G
XM_011535641.2:c.26491T>G (SYNE1)	XP_011533943.1:p.Ser8831Ala
XM_011535642.2:c.26479T>G (SYNE1)	XP_011533944.1:p.Ser8827Ala
XM_011535645.2:c.24262T>G (SYNE1)	XP_011533947.1:p.Ser8088Ala
XM_017010608.1:c.26494T>G (SYNE1)	XP_016866097.1:p.Ser8832Ala
XM_017010609.1:c.26494T>G (SYNE1)	XP_016866098.1:p.Ser8832Ala
XM_017010610.1:c.26473T>G (SYNE1)	XP_016866099.1:p.Ser8825Ala
XM_017010611.2:c.26467T>G (SYNE1)	XP_016866100.1:p.Ser8823Ala
XM_017010612.1:c.26416T>G (SYNE1)	XP_016866101.1:p.Ser8806Ala
XM_017010613.1:c.26380T>G (SYNE1)	XP_016866102.1:p.Ser8794Ala
XM_017010614.1:c.26338T>G (SYNE1)	XP_016866103.1:p.Ser8780Ala
XM_017010615.1:c.26227T>G (SYNE1)	XP_016866104.1:p.Ser8743Ala
XM_017010616.1:c.*158T>G (SYNE1)	XP_016866105.1:n.*158T>G
XM_017010617.1:c.*158T>G (SYNE1)	XP_016866106.1:n.*158T>G
XM_017010618.1:c.*158T>G (SYNE1)	XP_016866107.1:n.*158T>G
XM_017010619.1:c.24769T>G (SYNE1)	XP_016866108.1:p.Ser8257Ala
NM_182961.4:c.26347T>G (SYNE1) MANE Select	NP_892006.3:p.Ser8783Ala
NM_001328100.2:c.851-2783A>C (ESR1)	NP_001315029.1:n.851-2783A>C
NM_001347701.2:c.*158T>G (SYNE1)	NP_001334630.1:n.*158T>G
NM_001347702.2:c.2881T>G (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Ser961Ala
NM_033071.5:c.26203T>G (SYNE1)	NP_149062.2:p.Ser8735Ala