Canonical Allele Identifier: CA1673188778

Gene: SYNE1 ESR1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122468G= , CM000668.2:g.152122468G=	GRCh38
NC_000006.11:g.152443603G= , CM000668.1:g.152443603G=	GRCh37
NC_000006.10:g.152485296G=	NCBI36
NG_012855.1:g.519932C=
NG_008493.2:g.470778G=
NG_012855.2:g.519932C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2896C= (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Leu966=
ENST00000367255.10:c.26362C= (SYNE1) MANE Select	ENSP00000356224.5:p.Leu8788=
ENST00000423061.6:c.26218C= (SYNE1)	ENSP00000396024.1:p.Leu8740=
ENST00000672154.1:c.1705C= (SYNE1)
ENST00000672169.1:c.2080C= (SYNE1)
ENST00000673173.1:c.1947C= (SYNE1)
ENST00000673451.1:c.2212C= (SYNE1)	ENSP00000500189.1:n.2212C=
ENST00000341594.9:c.25147C= (SYNE1)	ENSP00000341887.6:p.Leu8383=
ENST00000347037.9:n.3110C= (SYNE1)
ENST00000354674.4:c.2896C= (SYNE1)	ENSP00000346701.4:p.Leu966=
ENST00000367251.7:c.5138C= (SYNE1)	ENSP00000356220.3:n.5138C=
ENST00000367255.9:c.26362C= (SYNE1)	ENSP00000356224.5:p.Leu8788=
ENST00000367256.9:n.10054C= (SYNE1)
ENST00000367257.8:c.4241C= (SYNE1)	ENSP00000356226.4:n.4241C=
ENST00000409694.6:n.9946C= (SYNE1)
ENST00000423061.5:c.26218C= (SYNE1)	ENSP00000396024.1:p.Leu8740=
ENST00000427531.6:c.851-2798G= (ESR1)	ENSP00000394721.2:n.851-2798G=
ENST00000460912.6:n.2976C= (SYNE1)
ENST00000478916.5:n.6999C= (SYNE1)
ENST00000539504.5:c.2827C= (SYNE1)	ENSP00000441052.1:p.Leu943=
NM_033071.3:c.26218C= (SYNE1)	NP_149062.1:p.Leu8740=
NM_182961.3:c.26362C= (SYNE1)	NP_892006.3:p.Leu8788=
XM_006715407.1:c.26509C= (SYNE1)	XP_006715470.1:p.Leu8837=
XM_006715408.1:c.26497C= (SYNE1)	XP_006715471.1:p.Leu8833=
XM_006715409.1:c.26488C= (SYNE1)	XP_006715472.1:p.Leu8830=
XM_006715410.1:c.26467C= (SYNE1)	XP_006715473.1:p.Leu8823=
XM_006715411.1:c.26458C= (SYNE1)	XP_006715474.1:p.Leu8820=
XM_006715412.1:c.26452C= (SYNE1)	XP_006715475.1:p.Leu8818=
XM_006715413.1:c.26440C= (SYNE1)	XP_006715476.1:p.Leu8814=
XM_006715414.1:c.26437C= (SYNE1)	XP_006715477.1:p.Leu8813=
XM_006715415.1:c.26398C= (SYNE1)	XP_006715478.1:p.Leu8800=
XM_006715416.1:c.26383C= (SYNE1)	XP_006715479.1:p.Leu8795=
XM_006715417.1:c.26368C= (SYNE1)	XP_006715480.1:p.Leu8790=
XM_006715420.1:c.26356C= (SYNE1)	XP_006715483.1:p.Leu8786=
XM_006715421.1:c.26353C= (SYNE1)	XP_006715484.1:p.Leu8785=
XM_006715422.1:c.26350C= (SYNE1)	XP_006715485.1:p.Leu8784=
XM_006715423.1:c.*173C= (SYNE1)	XP_006715486.1:n.*173C=
XM_006715424.1:c.*173C= (SYNE1)	XP_006715487.1:n.*173C=
XM_006715425.1:c.*173C= (SYNE1)	XP_006715488.1:n.*173C=
XM_011535641.1:c.26506C= (SYNE1)	XP_011533943.1:p.Leu8836=
XM_011535642.1:c.26494C= (SYNE1)	XP_011533944.1:p.Leu8832=
XM_011535643.1:c.26344C= (SYNE1)	XP_011533945.1:p.Leu8782=
XM_011535644.1:c.24784C= (SYNE1)	XP_011533946.1:p.Leu8262=
XM_011535645.1:c.24277C= (SYNE1)	XP_011533947.1:p.Leu8093=
XM_011535647.1:c.19744C= (SYNE1)	XP_011533949.1:p.Leu6582=
NM_001328100.1:c.851-2798G= (ESR1)	NP_001315029.1:n.851-2798G=
NM_001347701.1:c.*173C= (SYNE1)	NP_001334630.1:n.*173C=
NM_001347702.1:c.2896C= (SYNE1)	NP_001334631.1:p.Leu966=
XM_006715408.2:c.26497C= (SYNE1)	XP_006715471.1:p.Leu8833=
XM_006715410.2:c.26467C= (SYNE1)	XP_006715473.1:p.Leu8823=
XM_006715412.2:c.26452C= (SYNE1)	XP_006715475.1:p.Leu8818=
XM_006715413.2:c.26440C= (SYNE1)	XP_006715476.1:p.Leu8814=
XM_006715415.2:c.26398C= (SYNE1)	XP_006715478.1:p.Leu8800=
XM_006715416.2:c.26383C= (SYNE1)	XP_006715479.1:p.Leu8795=
XM_006715417.2:c.26368C= (SYNE1)	XP_006715480.1:p.Leu8790=
XM_006715420.2:c.26356C= (SYNE1)	XP_006715483.1:p.Leu8786=
XM_006715421.2:c.26353C= (SYNE1)	XP_006715484.1:p.Leu8785=
XM_006715423.2:c.*173C= (SYNE1)	XP_006715486.1:n.*173C=
XM_006715424.2:c.*173C= (SYNE1)	XP_006715487.1:n.*173C=
XM_006715425.2:c.*173C= (SYNE1)	XP_006715488.1:n.*173C=
XM_011535641.2:c.26506C= (SYNE1)	XP_011533943.1:p.Leu8836=
XM_011535642.2:c.26494C= (SYNE1)	XP_011533944.1:p.Leu8832=
XM_011535645.2:c.24277C= (SYNE1)	XP_011533947.1:p.Leu8093=
XM_017010608.1:c.26509C= (SYNE1)	XP_016866097.1:p.Leu8837=
XM_017010609.1:c.26509C= (SYNE1)	XP_016866098.1:p.Leu8837=
XM_017010610.1:c.26488C= (SYNE1)	XP_016866099.1:p.Leu8830=
XM_017010611.2:c.26482C= (SYNE1)	XP_016866100.1:p.Leu8828=
XM_017010612.1:c.26431C= (SYNE1)	XP_016866101.1:p.Leu8811=
XM_017010613.1:c.26395C= (SYNE1)	XP_016866102.1:p.Leu8799=
XM_017010614.1:c.26353C= (SYNE1)	XP_016866103.1:p.Leu8785=
XM_017010615.1:c.26242C= (SYNE1)	XP_016866104.1:p.Leu8748=
XM_017010616.1:c.*173C= (SYNE1)	XP_016866105.1:n.*173C=
XM_017010617.1:c.*173C= (SYNE1)	XP_016866106.1:n.*173C=
XM_017010618.1:c.*173C= (SYNE1)	XP_016866107.1:n.*173C=
XM_017010619.1:c.24784C= (SYNE1)	XP_016866108.1:p.Leu8262=
NM_182961.4:c.26362C= (SYNE1) MANE Select	NP_892006.3:p.Leu8788=
NM_001328100.2:c.851-2798G= (ESR1)	NP_001315029.1:n.851-2798G=
NM_001347701.2:c.*173C= (SYNE1)	NP_001334630.1:n.*173C=
NM_001347702.2:c.2896C= (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Leu966=
NM_033071.5:c.26218C= (SYNE1)	NP_149062.2:p.Leu8740=