Canonical Allele Identifier: CA366088562

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443617G>C (hg19) ; chr6:g.152122482G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122482G>C , CM000668.2:g.152122482G>C	GRCh38
NC_000006.11:g.152443617G>C , CM000668.1:g.152443617G>C	GRCh37
NC_000006.10:g.152485310G>C	NCBI36
NG_012855.1:g.519918C>G
NG_008493.2:g.470792G>C
NG_012855.2:g.519918C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2882C>G (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Ser961Ter
ENST00000367255.10:c.26348C>G (SYNE1) MANE Select	ENSP00000356224.5:p.Ser8783Ter
ENST00000423061.6:c.26204C>G (SYNE1)	ENSP00000396024.1:p.Ser8735Ter
ENST00000672154.1:c.1691C>G (SYNE1)
ENST00000672169.1:c.2066C>G (SYNE1)
ENST00000673173.1:c.1933C>G (SYNE1)
ENST00000673451.1:c.2198C>G (SYNE1)	ENSP00000500189.1:n.2198C>G
ENST00000341594.9:c.25133C>G (SYNE1)	ENSP00000341887.6:p.Ser8378Ter
ENST00000347037.9:n.3096C>G (SYNE1)
ENST00000354674.4:c.2882C>G (SYNE1)	ENSP00000346701.4:p.Ser961Ter
ENST00000367251.7:c.5124C>G (SYNE1)	ENSP00000356220.3:n.5124C>G
ENST00000367255.9:c.26348C>G (SYNE1)	ENSP00000356224.5:p.Ser8783Ter
ENST00000367256.9:n.10040C>G (SYNE1)
ENST00000367257.8:c.4227C>G (SYNE1)	ENSP00000356226.4:n.4227C>G
ENST00000409694.6:n.9932C>G (SYNE1)
ENST00000423061.5:c.26204C>G (SYNE1)	ENSP00000396024.1:p.Ser8735Ter
ENST00000427531.6:c.851-2784G>C (ESR1)	ENSP00000394721.2:n.851-2784G>C
ENST00000460912.6:n.2962C>G (SYNE1)
ENST00000478916.5:n.6985C>G (SYNE1)
ENST00000539504.5:c.2813C>G (SYNE1)	ENSP00000441052.1:p.Ser938Ter
NM_033071.3:c.26204C>G (SYNE1)	NP_149062.1:p.Ser8735Ter
NM_182961.3:c.26348C>G (SYNE1)	NP_892006.3:p.Ser8783Ter
XM_006715407.1:c.26495C>G (SYNE1)	XP_006715470.1:p.Ser8832Ter
XM_006715408.1:c.26483C>G (SYNE1)	XP_006715471.1:p.Ser8828Ter
XM_006715409.1:c.26474C>G (SYNE1)	XP_006715472.1:p.Ser8825Ter
XM_006715410.1:c.26453C>G (SYNE1)	XP_006715473.1:p.Ser8818Ter
XM_006715411.1:c.26444C>G (SYNE1)	XP_006715474.1:p.Ser8815Ter
XM_006715412.1:c.26438C>G (SYNE1)	XP_006715475.1:p.Ser8813Ter
XM_006715413.1:c.26426C>G (SYNE1)	XP_006715476.1:p.Ser8809Ter
XM_006715414.1:c.26423C>G (SYNE1)	XP_006715477.1:p.Ser8808Ter
XM_006715415.1:c.26384C>G (SYNE1)	XP_006715478.1:p.Ser8795Ter
XM_006715416.1:c.26369C>G (SYNE1)	XP_006715479.1:p.Ser8790Ter
XM_006715417.1:c.26354C>G (SYNE1)	XP_006715480.1:p.Ser8785Ter
XM_006715420.1:c.26342C>G (SYNE1)	XP_006715483.1:p.Ser8781Ter
XM_006715421.1:c.26339C>G (SYNE1)	XP_006715484.1:p.Ser8780Ter
XM_006715422.1:c.26336C>G (SYNE1)	XP_006715485.1:p.Ser8779Ter
XM_006715423.1:c.*159C>G (SYNE1)	XP_006715486.1:n.*159C>G
XM_006715424.1:c.*159C>G (SYNE1)	XP_006715487.1:n.*159C>G
XM_006715425.1:c.*159C>G (SYNE1)	XP_006715488.1:n.*159C>G
XM_011535641.1:c.26492C>G (SYNE1)	XP_011533943.1:p.Ser8831Ter
XM_011535642.1:c.26480C>G (SYNE1)	XP_011533944.1:p.Ser8827Ter
XM_011535643.1:c.26330C>G (SYNE1)	XP_011533945.1:p.Ser8777Ter
XM_011535644.1:c.24770C>G (SYNE1)	XP_011533946.1:p.Ser8257Ter
XM_011535645.1:c.24263C>G (SYNE1)	XP_011533947.1:p.Ser8088Ter
XM_011535647.1:c.19730C>G (SYNE1)	XP_011533949.1:p.Ser6577Ter
NM_001328100.1:c.851-2784G>C (ESR1)	NP_001315029.1:n.851-2784G>C
NM_001347701.1:c.*159C>G (SYNE1)	NP_001334630.1:n.*159C>G
NM_001347702.1:c.2882C>G (SYNE1)	NP_001334631.1:p.Ser961Ter
XM_006715408.2:c.26483C>G (SYNE1)	XP_006715471.1:p.Ser8828Ter
XM_006715410.2:c.26453C>G (SYNE1)	XP_006715473.1:p.Ser8818Ter
XM_006715412.2:c.26438C>G (SYNE1)	XP_006715475.1:p.Ser8813Ter
XM_006715413.2:c.26426C>G (SYNE1)	XP_006715476.1:p.Ser8809Ter
XM_006715415.2:c.26384C>G (SYNE1)	XP_006715478.1:p.Ser8795Ter
XM_006715416.2:c.26369C>G (SYNE1)	XP_006715479.1:p.Ser8790Ter
XM_006715417.2:c.26354C>G (SYNE1)	XP_006715480.1:p.Ser8785Ter
XM_006715420.2:c.26342C>G (SYNE1)	XP_006715483.1:p.Ser8781Ter
XM_006715421.2:c.26339C>G (SYNE1)	XP_006715484.1:p.Ser8780Ter
XM_006715423.2:c.*159C>G (SYNE1)	XP_006715486.1:n.*159C>G
XM_006715424.2:c.*159C>G (SYNE1)	XP_006715487.1:n.*159C>G
XM_006715425.2:c.*159C>G (SYNE1)	XP_006715488.1:n.*159C>G
XM_011535641.2:c.26492C>G (SYNE1)	XP_011533943.1:p.Ser8831Ter
XM_011535642.2:c.26480C>G (SYNE1)	XP_011533944.1:p.Ser8827Ter
XM_011535645.2:c.24263C>G (SYNE1)	XP_011533947.1:p.Ser8088Ter
XM_017010608.1:c.26495C>G (SYNE1)	XP_016866097.1:p.Ser8832Ter
XM_017010609.1:c.26495C>G (SYNE1)	XP_016866098.1:p.Ser8832Ter
XM_017010610.1:c.26474C>G (SYNE1)	XP_016866099.1:p.Ser8825Ter
XM_017010611.2:c.26468C>G (SYNE1)	XP_016866100.1:p.Ser8823Ter
XM_017010612.1:c.26417C>G (SYNE1)	XP_016866101.1:p.Ser8806Ter
XM_017010613.1:c.26381C>G (SYNE1)	XP_016866102.1:p.Ser8794Ter
XM_017010614.1:c.26339C>G (SYNE1)	XP_016866103.1:p.Ser8780Ter
XM_017010615.1:c.26228C>G (SYNE1)	XP_016866104.1:p.Ser8743Ter
XM_017010616.1:c.*159C>G (SYNE1)	XP_016866105.1:n.*159C>G
XM_017010617.1:c.*159C>G (SYNE1)	XP_016866106.1:n.*159C>G
XM_017010618.1:c.*159C>G (SYNE1)	XP_016866107.1:n.*159C>G
XM_017010619.1:c.24770C>G (SYNE1)	XP_016866108.1:p.Ser8257Ter
NM_182961.4:c.26348C>G (SYNE1) MANE Select	NP_892006.3:p.Ser8783Ter
NM_001328100.2:c.851-2784G>C (ESR1)	NP_001315029.1:n.851-2784G>C
NM_001347701.2:c.*159C>G (SYNE1)	NP_001334630.1:n.*159C>G
NM_001347702.2:c.2882C>G (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Ser961Ter
NM_033071.5:c.26204C>G (SYNE1)	NP_149062.2:p.Ser8735Ter