Canonical Allele Identifier: CA366088818

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443676G>T (hg19) ; chr6:g.152122541G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122541G>T , CM000668.2:g.152122541G>T	GRCh38
NC_000006.11:g.152443676G>T , CM000668.1:g.152443676G>T	GRCh37
NC_000006.10:g.152485369G>T	NCBI36
NG_012855.1:g.519859C>A
NG_008493.2:g.470851G>T
NG_012855.2:g.519859C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2823C>A (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Cys941Ter
ENST00000367255.10:c.26289C>A (SYNE1) MANE Select	ENSP00000356224.5:p.Cys8763Ter
ENST00000423061.6:c.26145C>A (SYNE1)	ENSP00000396024.1:p.Cys8715Ter
ENST00000672154.1:c.1632C>A (SYNE1)
ENST00000672169.1:c.2007C>A (SYNE1)
ENST00000673173.1:c.1874C>A (SYNE1)
ENST00000673451.1:c.2139C>A (SYNE1)	ENSP00000500189.1:n.2139C>A
ENST00000341594.9:c.25074C>A (SYNE1)	ENSP00000341887.6:p.Cys8358Ter
ENST00000347037.9:n.3037C>A (SYNE1)
ENST00000354674.4:c.2823C>A (SYNE1)	ENSP00000346701.4:p.Cys941Ter
ENST00000367251.7:c.5065C>A (SYNE1)	ENSP00000356220.3:n.5065C>A
ENST00000367255.9:c.26289C>A (SYNE1)	ENSP00000356224.5:p.Cys8763Ter
ENST00000367256.9:n.9981C>A (SYNE1)
ENST00000367257.8:c.4168C>A (SYNE1)	ENSP00000356226.4:n.4168C>A
ENST00000409694.6:n.9873C>A (SYNE1)
ENST00000423061.5:c.26145C>A (SYNE1)	ENSP00000396024.1:p.Cys8715Ter
ENST00000427531.6:c.851-2725G>T (ESR1)	ENSP00000394721.2:n.851-2725G>T
ENST00000460912.6:n.2903C>A (SYNE1)
ENST00000478916.5:n.6926C>A (SYNE1)
ENST00000539504.5:c.2754C>A (SYNE1)	ENSP00000441052.1:p.Cys918Ter
NM_033071.3:c.26145C>A (SYNE1)	NP_149062.1:p.Cys8715Ter
NM_182961.3:c.26289C>A (SYNE1)	NP_892006.3:p.Cys8763Ter
XM_006715407.1:c.26436C>A (SYNE1)	XP_006715470.1:p.Cys8812Ter
XM_006715408.1:c.26424C>A (SYNE1)	XP_006715471.1:p.Cys8808Ter
XM_006715409.1:c.26415C>A (SYNE1)	XP_006715472.1:p.Cys8805Ter
XM_006715410.1:c.26394C>A (SYNE1)	XP_006715473.1:p.Cys8798Ter
XM_006715411.1:c.26385C>A (SYNE1)	XP_006715474.1:p.Cys8795Ter
XM_006715412.1:c.26379C>A (SYNE1)	XP_006715475.1:p.Cys8793Ter
XM_006715413.1:c.26367C>A (SYNE1)	XP_006715476.1:p.Cys8789Ter
XM_006715414.1:c.26364C>A (SYNE1)	XP_006715477.1:p.Cys8788Ter
XM_006715415.1:c.26325C>A (SYNE1)	XP_006715478.1:p.Cys8775Ter
XM_006715416.1:c.26310C>A (SYNE1)	XP_006715479.1:p.Cys8770Ter
XM_006715417.1:c.26295C>A (SYNE1)	XP_006715480.1:p.Cys8765Ter
XM_006715420.1:c.26283C>A (SYNE1)	XP_006715483.1:p.Cys8761Ter
XM_006715421.1:c.26280C>A (SYNE1)	XP_006715484.1:p.Cys8760Ter
XM_006715422.1:c.26277C>A (SYNE1)	XP_006715485.1:p.Cys8759Ter
XM_006715423.1:c.*100C>A (SYNE1)	XP_006715486.1:n.*100C>A
XM_006715424.1:c.*100C>A (SYNE1)	XP_006715487.1:n.*100C>A
XM_006715425.1:c.*100C>A (SYNE1)	XP_006715488.1:n.*100C>A
XM_011535641.1:c.26433C>A (SYNE1)	XP_011533943.1:p.Cys8811Ter
XM_011535642.1:c.26421C>A (SYNE1)	XP_011533944.1:p.Cys8807Ter
XM_011535643.1:c.26271C>A (SYNE1)	XP_011533945.1:p.Cys8757Ter
XM_011535644.1:c.24711C>A (SYNE1)	XP_011533946.1:p.Cys8237Ter
XM_011535645.1:c.24204C>A (SYNE1)	XP_011533947.1:p.Cys8068Ter
XM_011535647.1:c.19671C>A (SYNE1)	XP_011533949.1:p.Cys6557Ter
NM_001328100.1:c.851-2725G>T (ESR1)	NP_001315029.1:n.851-2725G>T
NM_001347701.1:c.*100C>A (SYNE1)	NP_001334630.1:n.*100C>A
NM_001347702.1:c.2823C>A (SYNE1)	NP_001334631.1:p.Cys941Ter
XM_006715408.2:c.26424C>A (SYNE1)	XP_006715471.1:p.Cys8808Ter
XM_006715410.2:c.26394C>A (SYNE1)	XP_006715473.1:p.Cys8798Ter
XM_006715412.2:c.26379C>A (SYNE1)	XP_006715475.1:p.Cys8793Ter
XM_006715413.2:c.26367C>A (SYNE1)	XP_006715476.1:p.Cys8789Ter
XM_006715415.2:c.26325C>A (SYNE1)	XP_006715478.1:p.Cys8775Ter
XM_006715416.2:c.26310C>A (SYNE1)	XP_006715479.1:p.Cys8770Ter
XM_006715417.2:c.26295C>A (SYNE1)	XP_006715480.1:p.Cys8765Ter
XM_006715420.2:c.26283C>A (SYNE1)	XP_006715483.1:p.Cys8761Ter
XM_006715421.2:c.26280C>A (SYNE1)	XP_006715484.1:p.Cys8760Ter
XM_006715423.2:c.*100C>A (SYNE1)	XP_006715486.1:n.*100C>A
XM_006715424.2:c.*100C>A (SYNE1)	XP_006715487.1:n.*100C>A
XM_006715425.2:c.*100C>A (SYNE1)	XP_006715488.1:n.*100C>A
XM_011535641.2:c.26433C>A (SYNE1)	XP_011533943.1:p.Cys8811Ter
XM_011535642.2:c.26421C>A (SYNE1)	XP_011533944.1:p.Cys8807Ter
XM_011535645.2:c.24204C>A (SYNE1)	XP_011533947.1:p.Cys8068Ter
XM_017010608.1:c.26436C>A (SYNE1)	XP_016866097.1:p.Cys8812Ter
XM_017010609.1:c.26436C>A (SYNE1)	XP_016866098.1:p.Cys8812Ter
XM_017010610.1:c.26415C>A (SYNE1)	XP_016866099.1:p.Cys8805Ter
XM_017010611.2:c.26409C>A (SYNE1)	XP_016866100.1:p.Cys8803Ter
XM_017010612.1:c.26358C>A (SYNE1)	XP_016866101.1:p.Cys8786Ter
XM_017010613.1:c.26322C>A (SYNE1)	XP_016866102.1:p.Cys8774Ter
XM_017010614.1:c.26280C>A (SYNE1)	XP_016866103.1:p.Cys8760Ter
XM_017010615.1:c.26169C>A (SYNE1)	XP_016866104.1:p.Cys8723Ter
XM_017010616.1:c.*100C>A (SYNE1)	XP_016866105.1:n.*100C>A
XM_017010617.1:c.*100C>A (SYNE1)	XP_016866106.1:n.*100C>A
XM_017010618.1:c.*100C>A (SYNE1)	XP_016866107.1:n.*100C>A
XM_017010619.1:c.24711C>A (SYNE1)	XP_016866108.1:p.Cys8237Ter
NM_182961.4:c.26289C>A (SYNE1) MANE Select	NP_892006.3:p.Cys8763Ter
NM_001328100.2:c.851-2725G>T (ESR1)	NP_001315029.1:n.851-2725G>T
NM_001347701.2:c.*100C>A (SYNE1)	NP_001334630.1:n.*100C>A
NM_001347702.2:c.2823C>A (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Cys941Ter
NM_033071.5:c.26145C>A (SYNE1)	NP_149062.2:p.Cys8715Ter