Canonical Allele Identifier: CA366089262

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443802T>C (hg19) ; chr6:g.152122667T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122667T>C , CM000668.2:g.152122667T>C	GRCh38
NC_000006.11:g.152443802T>C , CM000668.1:g.152443802T>C	GRCh37
NC_000006.10:g.152485495T>C	NCBI36
NG_012855.1:g.519733A>G
NG_008493.2:g.470977T>C
NG_012855.2:g.519733A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2697A>G (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Lys899=
ENST00000367255.10:c.26163A>G (SYNE1) MANE Select	ENSP00000356224.5:p.Lys8721=
ENST00000423061.6:c.26019A>G (SYNE1)	ENSP00000396024.1:p.Lys8673=
ENST00000672154.1:c.1506A>G (SYNE1)
ENST00000672169.1:c.1881A>G (SYNE1)
ENST00000673173.1:c.1748A>G (SYNE1)
ENST00000673451.1:c.2013A>G (SYNE1)	ENSP00000500189.1:n.2013A>G
ENST00000341594.9:c.24948A>G (SYNE1)	ENSP00000341887.6:p.Lys8316=
ENST00000347037.9:n.2911A>G (SYNE1)
ENST00000354674.4:c.2697A>G (SYNE1)	ENSP00000346701.4:p.Lys899=
ENST00000367251.7:c.4939A>G (SYNE1)	ENSP00000356220.3:p.Arg1647Gly
ENST00000367255.9:c.26163A>G (SYNE1)	ENSP00000356224.5:p.Lys8721=
ENST00000367256.9:n.9855A>G (SYNE1)
ENST00000367257.8:c.4042A>G (SYNE1)	ENSP00000356226.4:p.Arg1348Gly
ENST00000409694.6:n.9747A>G (SYNE1)
ENST00000423061.5:c.26019A>G (SYNE1)	ENSP00000396024.1:p.Lys8673=
ENST00000427531.6:c.851-2599T>C (ESR1)	ENSP00000394721.2:n.851-2599T>C
ENST00000460912.6:n.2777A>G (SYNE1)
ENST00000478916.5:n.6800A>G (SYNE1)
ENST00000536990.5:n.2941A>G (SYNE1)
ENST00000539504.5:c.2628A>G (SYNE1)	ENSP00000441052.1:p.Lys876=
NM_033071.3:c.26019A>G (SYNE1)	NP_149062.1:p.Lys8673=
NM_182961.3:c.26163A>G (SYNE1)	NP_892006.3:p.Lys8721=
XM_006715407.1:c.26310A>G (SYNE1)	XP_006715470.1:p.Lys8770=
XM_006715408.1:c.26298A>G (SYNE1)	XP_006715471.1:p.Lys8766=
XM_006715409.1:c.26289A>G (SYNE1)	XP_006715472.1:p.Lys8763=
XM_006715410.1:c.26268A>G (SYNE1)	XP_006715473.1:p.Lys8756=
XM_006715411.1:c.26259A>G (SYNE1)	XP_006715474.1:p.Lys8753=
XM_006715412.1:c.26253A>G (SYNE1)	XP_006715475.1:p.Lys8751=
XM_006715413.1:c.26241A>G (SYNE1)	XP_006715476.1:p.Lys8747=
XM_006715414.1:c.26238A>G (SYNE1)	XP_006715477.1:p.Lys8746=
XM_006715415.1:c.26199A>G (SYNE1)	XP_006715478.1:p.Lys8733=
XM_006715416.1:c.26184A>G (SYNE1)	XP_006715479.1:p.Lys8728=
XM_006715417.1:c.26169A>G (SYNE1)	XP_006715480.1:p.Lys8723=
XM_006715420.1:c.26157A>G (SYNE1)	XP_006715483.1:p.Lys8719=
XM_006715421.1:c.26154A>G (SYNE1)	XP_006715484.1:p.Lys8718=
XM_006715422.1:c.26151A>G (SYNE1)	XP_006715485.1:p.Lys8717=
XM_006715423.1:c.26251A>G (SYNE1)	XP_006715486.1:p.Arg8751Gly
XM_006715424.1:c.26209A>G (SYNE1)	XP_006715487.1:p.Arg8737Gly
XM_006715425.1:c.26140A>G (SYNE1)	XP_006715488.1:p.Arg8714Gly
XM_011535641.1:c.26307A>G (SYNE1)	XP_011533943.1:p.Lys8769=
XM_011535642.1:c.26295A>G (SYNE1)	XP_011533944.1:p.Lys8765=
XM_011535643.1:c.26145A>G (SYNE1)	XP_011533945.1:p.Lys8715=
XM_011535644.1:c.24585A>G (SYNE1)	XP_011533946.1:p.Lys8195=
XM_011535645.1:c.24078A>G (SYNE1)	XP_011533947.1:p.Lys8026=
XM_011535647.1:c.19545A>G (SYNE1)	XP_011533949.1:p.Lys6515=
NM_001328100.1:c.851-2599T>C (ESR1)	NP_001315029.1:n.851-2599T>C
NM_001347701.1:c.2710A>G (SYNE1)	NP_001334630.1:p.Arg904Gly
NM_001347702.1:c.2697A>G (SYNE1)	NP_001334631.1:p.Lys899=
XM_006715408.2:c.26298A>G (SYNE1)	XP_006715471.1:p.Lys8766=
XM_006715410.2:c.26268A>G (SYNE1)	XP_006715473.1:p.Lys8756=
XM_006715412.2:c.26253A>G (SYNE1)	XP_006715475.1:p.Lys8751=
XM_006715413.2:c.26241A>G (SYNE1)	XP_006715476.1:p.Lys8747=
XM_006715415.2:c.26199A>G (SYNE1)	XP_006715478.1:p.Lys8733=
XM_006715416.2:c.26184A>G (SYNE1)	XP_006715479.1:p.Lys8728=
XM_006715417.2:c.26169A>G (SYNE1)	XP_006715480.1:p.Lys8723=
XM_006715420.2:c.26157A>G (SYNE1)	XP_006715483.1:p.Lys8719=
XM_006715421.2:c.26154A>G (SYNE1)	XP_006715484.1:p.Lys8718=
XM_006715423.2:c.26251A>G (SYNE1)	XP_006715486.1:p.Arg8751Gly
XM_006715424.2:c.26209A>G (SYNE1)	XP_006715487.1:p.Arg8737Gly
XM_006715425.2:c.26140A>G (SYNE1)	XP_006715488.1:p.Arg8714Gly
XM_011535641.2:c.26307A>G (SYNE1)	XP_011533943.1:p.Lys8769=
XM_011535642.2:c.26295A>G (SYNE1)	XP_011533944.1:p.Lys8765=
XM_011535645.2:c.24078A>G (SYNE1)	XP_011533947.1:p.Lys8026=
XM_017010608.1:c.26310A>G (SYNE1)	XP_016866097.1:p.Lys8770=
XM_017010609.1:c.26310A>G (SYNE1)	XP_016866098.1:p.Lys8770=
XM_017010610.1:c.26289A>G (SYNE1)	XP_016866099.1:p.Lys8763=
XM_017010611.2:c.26283A>G (SYNE1)	XP_016866100.1:p.Lys8761=
XM_017010612.1:c.26232A>G (SYNE1)	XP_016866101.1:p.Lys8744=
XM_017010613.1:c.26196A>G (SYNE1)	XP_016866102.1:p.Lys8732=
XM_017010614.1:c.26154A>G (SYNE1)	XP_016866103.1:p.Lys8718=
XM_017010615.1:c.26043A>G (SYNE1)	XP_016866104.1:p.Lys8681=
XM_017010616.1:c.26182A>G (SYNE1)	XP_016866105.1:p.Arg8728Gly
XM_017010617.1:c.26137A>G (SYNE1)	XP_016866106.1:p.Arg8713Gly
XM_017010618.1:c.26125A>G (SYNE1)	XP_016866107.1:p.Arg8709Gly
XM_017010619.1:c.24585A>G (SYNE1)	XP_016866108.1:p.Lys8195=
NM_182961.4:c.26163A>G (SYNE1) MANE Select	NP_892006.3:p.Lys8721=
NM_001328100.2:c.851-2599T>C (ESR1)	NP_001315029.1:n.851-2599T>C
NM_001347701.2:c.2710A>G (SYNE1)	NP_001334630.1:p.Arg904Gly
NM_001347702.2:c.2697A>G (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Lys899=
NM_033071.5:c.26019A>G (SYNE1)	NP_149062.2:p.Lys8673=