Canonical Allele Identifier: CA366088871

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443692A>C (hg19) ; chr6:g.152122557A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122557A>C , CM000668.2:g.152122557A>C	GRCh38
NC_000006.11:g.152443692A>C , CM000668.1:g.152443692A>C	GRCh37
NC_000006.10:g.152485385A>C	NCBI36
NG_012855.1:g.519843T>G
NG_008493.2:g.470867A>C
NG_012855.2:g.519843T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2807T>G (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Leu936Arg
ENST00000367255.10:c.26273T>G (SYNE1) MANE Select	ENSP00000356224.5:p.Leu8758Arg
ENST00000423061.6:c.26129T>G (SYNE1)	ENSP00000396024.1:p.Leu8710Arg
ENST00000672154.1:c.1616T>G (SYNE1)
ENST00000672169.1:c.1991T>G (SYNE1)
ENST00000673173.1:c.1858T>G (SYNE1)
ENST00000673451.1:c.2123T>G (SYNE1)	ENSP00000500189.1:n.2123T>G
ENST00000341594.9:c.25058T>G (SYNE1)	ENSP00000341887.6:p.Leu8353Arg
ENST00000347037.9:n.3021T>G (SYNE1)
ENST00000354674.4:c.2807T>G (SYNE1)	ENSP00000346701.4:p.Leu936Arg
ENST00000367251.7:c.5049T>G (SYNE1)	ENSP00000356220.3:n.5049T>G
ENST00000367255.9:c.26273T>G (SYNE1)	ENSP00000356224.5:p.Leu8758Arg
ENST00000367256.9:n.9965T>G (SYNE1)
ENST00000367257.8:c.4152T>G (SYNE1)	ENSP00000356226.4:n.4152T>G
ENST00000409694.6:n.9857T>G (SYNE1)
ENST00000423061.5:c.26129T>G (SYNE1)	ENSP00000396024.1:p.Leu8710Arg
ENST00000427531.6:c.851-2709A>C (ESR1)	ENSP00000394721.2:n.851-2709A>C
ENST00000460912.6:n.2887T>G (SYNE1)
ENST00000478916.5:n.6910T>G (SYNE1)
ENST00000539504.5:c.2738T>G (SYNE1)	ENSP00000441052.1:p.Leu913Arg
NM_033071.3:c.26129T>G (SYNE1)	NP_149062.1:p.Leu8710Arg
NM_182961.3:c.26273T>G (SYNE1)	NP_892006.3:p.Leu8758Arg
XM_006715407.1:c.26420T>G (SYNE1)	XP_006715470.1:p.Leu8807Arg
XM_006715408.1:c.26408T>G (SYNE1)	XP_006715471.1:p.Leu8803Arg
XM_006715409.1:c.26399T>G (SYNE1)	XP_006715472.1:p.Leu8800Arg
XM_006715410.1:c.26378T>G (SYNE1)	XP_006715473.1:p.Leu8793Arg
XM_006715411.1:c.26369T>G (SYNE1)	XP_006715474.1:p.Leu8790Arg
XM_006715412.1:c.26363T>G (SYNE1)	XP_006715475.1:p.Leu8788Arg
XM_006715413.1:c.26351T>G (SYNE1)	XP_006715476.1:p.Leu8784Arg
XM_006715414.1:c.26348T>G (SYNE1)	XP_006715477.1:p.Leu8783Arg
XM_006715415.1:c.26309T>G (SYNE1)	XP_006715478.1:p.Leu8770Arg
XM_006715416.1:c.26294T>G (SYNE1)	XP_006715479.1:p.Leu8765Arg
XM_006715417.1:c.26279T>G (SYNE1)	XP_006715480.1:p.Leu8760Arg
XM_006715420.1:c.26267T>G (SYNE1)	XP_006715483.1:p.Leu8756Arg
XM_006715421.1:c.26264T>G (SYNE1)	XP_006715484.1:p.Leu8755Arg
XM_006715422.1:c.26261T>G (SYNE1)	XP_006715485.1:p.Leu8754Arg
XM_006715423.1:c.*84T>G (SYNE1)	XP_006715486.1:n.*84T>G
XM_006715424.1:c.*84T>G (SYNE1)	XP_006715487.1:n.*84T>G
XM_006715425.1:c.*84T>G (SYNE1)	XP_006715488.1:n.*84T>G
XM_011535641.1:c.26417T>G (SYNE1)	XP_011533943.1:p.Leu8806Arg
XM_011535642.1:c.26405T>G (SYNE1)	XP_011533944.1:p.Leu8802Arg
XM_011535643.1:c.26255T>G (SYNE1)	XP_011533945.1:p.Leu8752Arg
XM_011535644.1:c.24695T>G (SYNE1)	XP_011533946.1:p.Leu8232Arg
XM_011535645.1:c.24188T>G (SYNE1)	XP_011533947.1:p.Leu8063Arg
XM_011535647.1:c.19655T>G (SYNE1)	XP_011533949.1:p.Leu6552Arg
NM_001328100.1:c.851-2709A>C (ESR1)	NP_001315029.1:n.851-2709A>C
NM_001347701.1:c.*84T>G (SYNE1)	NP_001334630.1:n.*84T>G
NM_001347702.1:c.2807T>G (SYNE1)	NP_001334631.1:p.Leu936Arg
XM_006715408.2:c.26408T>G (SYNE1)	XP_006715471.1:p.Leu8803Arg
XM_006715410.2:c.26378T>G (SYNE1)	XP_006715473.1:p.Leu8793Arg
XM_006715412.2:c.26363T>G (SYNE1)	XP_006715475.1:p.Leu8788Arg
XM_006715413.2:c.26351T>G (SYNE1)	XP_006715476.1:p.Leu8784Arg
XM_006715415.2:c.26309T>G (SYNE1)	XP_006715478.1:p.Leu8770Arg
XM_006715416.2:c.26294T>G (SYNE1)	XP_006715479.1:p.Leu8765Arg
XM_006715417.2:c.26279T>G (SYNE1)	XP_006715480.1:p.Leu8760Arg
XM_006715420.2:c.26267T>G (SYNE1)	XP_006715483.1:p.Leu8756Arg
XM_006715421.2:c.26264T>G (SYNE1)	XP_006715484.1:p.Leu8755Arg
XM_006715423.2:c.*84T>G (SYNE1)	XP_006715486.1:n.*84T>G
XM_006715424.2:c.*84T>G (SYNE1)	XP_006715487.1:n.*84T>G
XM_006715425.2:c.*84T>G (SYNE1)	XP_006715488.1:n.*84T>G
XM_011535641.2:c.26417T>G (SYNE1)	XP_011533943.1:p.Leu8806Arg
XM_011535642.2:c.26405T>G (SYNE1)	XP_011533944.1:p.Leu8802Arg
XM_011535645.2:c.24188T>G (SYNE1)	XP_011533947.1:p.Leu8063Arg
XM_017010608.1:c.26420T>G (SYNE1)	XP_016866097.1:p.Leu8807Arg
XM_017010609.1:c.26420T>G (SYNE1)	XP_016866098.1:p.Leu8807Arg
XM_017010610.1:c.26399T>G (SYNE1)	XP_016866099.1:p.Leu8800Arg
XM_017010611.2:c.26393T>G (SYNE1)	XP_016866100.1:p.Leu8798Arg
XM_017010612.1:c.26342T>G (SYNE1)	XP_016866101.1:p.Leu8781Arg
XM_017010613.1:c.26306T>G (SYNE1)	XP_016866102.1:p.Leu8769Arg
XM_017010614.1:c.26264T>G (SYNE1)	XP_016866103.1:p.Leu8755Arg
XM_017010615.1:c.26153T>G (SYNE1)	XP_016866104.1:p.Leu8718Arg
XM_017010616.1:c.*84T>G (SYNE1)	XP_016866105.1:n.*84T>G
XM_017010617.1:c.*84T>G (SYNE1)	XP_016866106.1:n.*84T>G
XM_017010618.1:c.*84T>G (SYNE1)	XP_016866107.1:n.*84T>G
XM_017010619.1:c.24695T>G (SYNE1)	XP_016866108.1:p.Leu8232Arg
NM_182961.4:c.26273T>G (SYNE1) MANE Select	NP_892006.3:p.Leu8758Arg
NM_001328100.2:c.851-2709A>C (ESR1)	NP_001315029.1:n.851-2709A>C
NM_001347701.2:c.*84T>G (SYNE1)	NP_001334630.1:n.*84T>G
NM_001347702.2:c.2807T>G (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Leu936Arg
NM_033071.5:c.26129T>G (SYNE1)	NP_149062.2:p.Leu8710Arg