Canonical Allele Identifier: CA1673189096

Gene: SYNE1 ESR1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122618G= , CM000668.2:g.152122618G=	GRCh38
NC_000006.11:g.152443753G= , CM000668.1:g.152443753G=	GRCh37
NC_000006.10:g.152485446G=	NCBI36
NG_012855.1:g.519782C=
NG_008493.2:g.470928G=
NG_012855.2:g.519782C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000354674.5:c.2746C= (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Arg916=
ENST00000367255.10:c.26212C= (SYNE1) MANE Select	ENSP00000356224.5:p.Arg8738=
ENST00000423061.6:c.26068C= (SYNE1)	ENSP00000396024.1:p.Arg8690=
ENST00000672154.1:c.1555C= (SYNE1)
ENST00000672169.1:c.1930C= (SYNE1)
ENST00000673173.1:c.1797C= (SYNE1)
ENST00000673451.1:c.2062C= (SYNE1)	ENSP00000500189.1:n.2062C=
ENST00000341594.9:c.24997C= (SYNE1)	ENSP00000341887.6:p.Arg8333=
ENST00000347037.9:n.2960C= (SYNE1)
ENST00000354674.4:c.2746C= (SYNE1)	ENSP00000346701.4:p.Arg916=
ENST00000367251.7:c.4988C= (SYNE1)	ENSP00000356220.3:n.4988C=
ENST00000367255.9:c.26212C= (SYNE1)	ENSP00000356224.5:p.Arg8738=
ENST00000367256.9:n.9904C= (SYNE1)
ENST00000367257.8:c.4091C= (SYNE1)	ENSP00000356226.4:n.4091C=
ENST00000409694.6:n.9796C= (SYNE1)
ENST00000423061.5:c.26068C= (SYNE1)	ENSP00000396024.1:p.Arg8690=
ENST00000427531.6:c.851-2648G= (ESR1)	ENSP00000394721.2:n.851-2648G=
ENST00000460912.6:n.2826C= (SYNE1)
ENST00000478916.5:n.6849C= (SYNE1)
ENST00000536990.5:n.2990C= (SYNE1)
ENST00000539504.5:c.2677C= (SYNE1)	ENSP00000441052.1:p.Arg893=
NM_033071.3:c.26068C= (SYNE1)	NP_149062.1:p.Arg8690=
NM_182961.3:c.26212C= (SYNE1)	NP_892006.3:p.Arg8738=
XM_006715407.1:c.26359C= (SYNE1)	XP_006715470.1:p.Arg8787=
XM_006715408.1:c.26347C= (SYNE1)	XP_006715471.1:p.Arg8783=
XM_006715409.1:c.26338C= (SYNE1)	XP_006715472.1:p.Arg8780=
XM_006715410.1:c.26317C= (SYNE1)	XP_006715473.1:p.Arg8773=
XM_006715411.1:c.26308C= (SYNE1)	XP_006715474.1:p.Arg8770=
XM_006715412.1:c.26302C= (SYNE1)	XP_006715475.1:p.Arg8768=
XM_006715413.1:c.26290C= (SYNE1)	XP_006715476.1:p.Arg8764=
XM_006715414.1:c.26287C= (SYNE1)	XP_006715477.1:p.Arg8763=
XM_006715415.1:c.26248C= (SYNE1)	XP_006715478.1:p.Arg8750=
XM_006715416.1:c.26233C= (SYNE1)	XP_006715479.1:p.Arg8745=
XM_006715417.1:c.26218C= (SYNE1)	XP_006715480.1:p.Arg8740=
XM_006715420.1:c.26206C= (SYNE1)	XP_006715483.1:p.Arg8736=
XM_006715421.1:c.26203C= (SYNE1)	XP_006715484.1:p.Arg8735=
XM_006715422.1:c.26200C= (SYNE1)	XP_006715485.1:p.Arg8734=
XM_006715423.1:c.*23C= (SYNE1)	XP_006715486.1:n.*23C=
XM_006715424.1:c.*23C= (SYNE1)	XP_006715487.1:n.*23C=
XM_006715425.1:c.*23C= (SYNE1)	XP_006715488.1:n.*23C=
XM_011535641.1:c.26356C= (SYNE1)	XP_011533943.1:p.Arg8786=
XM_011535642.1:c.26344C= (SYNE1)	XP_011533944.1:p.Arg8782=
XM_011535643.1:c.26194C= (SYNE1)	XP_011533945.1:p.Arg8732=
XM_011535644.1:c.24634C= (SYNE1)	XP_011533946.1:p.Arg8212=
XM_011535645.1:c.24127C= (SYNE1)	XP_011533947.1:p.Arg8043=
XM_011535647.1:c.19594C= (SYNE1)	XP_011533949.1:p.Arg6532=
NM_001328100.1:c.851-2648G= (ESR1)	NP_001315029.1:n.851-2648G=
NM_001347701.1:c.*23C= (SYNE1)	NP_001334630.1:n.*23C=
NM_001347702.1:c.2746C= (SYNE1)	NP_001334631.1:p.Arg916=
XM_006715408.2:c.26347C= (SYNE1)	XP_006715471.1:p.Arg8783=
XM_006715410.2:c.26317C= (SYNE1)	XP_006715473.1:p.Arg8773=
XM_006715412.2:c.26302C= (SYNE1)	XP_006715475.1:p.Arg8768=
XM_006715413.2:c.26290C= (SYNE1)	XP_006715476.1:p.Arg8764=
XM_006715415.2:c.26248C= (SYNE1)	XP_006715478.1:p.Arg8750=
XM_006715416.2:c.26233C= (SYNE1)	XP_006715479.1:p.Arg8745=
XM_006715417.2:c.26218C= (SYNE1)	XP_006715480.1:p.Arg8740=
XM_006715420.2:c.26206C= (SYNE1)	XP_006715483.1:p.Arg8736=
XM_006715421.2:c.26203C= (SYNE1)	XP_006715484.1:p.Arg8735=
XM_006715423.2:c.*23C= (SYNE1)	XP_006715486.1:n.*23C=
XM_006715424.2:c.*23C= (SYNE1)	XP_006715487.1:n.*23C=
XM_006715425.2:c.*23C= (SYNE1)	XP_006715488.1:n.*23C=
XM_011535641.2:c.26356C= (SYNE1)	XP_011533943.1:p.Arg8786=
XM_011535642.2:c.26344C= (SYNE1)	XP_011533944.1:p.Arg8782=
XM_011535645.2:c.24127C= (SYNE1)	XP_011533947.1:p.Arg8043=
XM_017010608.1:c.26359C= (SYNE1)	XP_016866097.1:p.Arg8787=
XM_017010609.1:c.26359C= (SYNE1)	XP_016866098.1:p.Arg8787=
XM_017010610.1:c.26338C= (SYNE1)	XP_016866099.1:p.Arg8780=
XM_017010611.2:c.26332C= (SYNE1)	XP_016866100.1:p.Arg8778=
XM_017010612.1:c.26281C= (SYNE1)	XP_016866101.1:p.Arg8761=
XM_017010613.1:c.26245C= (SYNE1)	XP_016866102.1:p.Arg8749=
XM_017010614.1:c.26203C= (SYNE1)	XP_016866103.1:p.Arg8735=
XM_017010615.1:c.26092C= (SYNE1)	XP_016866104.1:p.Arg8698=
XM_017010616.1:c.*23C= (SYNE1)	XP_016866105.1:n.*23C=
XM_017010617.1:c.*23C= (SYNE1)	XP_016866106.1:n.*23C=
XM_017010618.1:c.*23C= (SYNE1)	XP_016866107.1:n.*23C=
XM_017010619.1:c.24634C= (SYNE1)	XP_016866108.1:p.Arg8212=
NM_182961.4:c.26212C= (SYNE1) MANE Select	NP_892006.3:p.Arg8738=
NM_001328100.2:c.851-2648G= (ESR1)	NP_001315029.1:n.851-2648G=
NM_001347701.2:c.*23C= (SYNE1)	NP_001334630.1:n.*23C=
NM_001347702.2:c.2746C= (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Arg916=
NM_033071.5:c.26068C= (SYNE1)	NP_149062.2:p.Arg8690=