Canonical Allele Identifier: CA1673188688

Gene: SYNE1 ESR1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122441G= , CM000668.2:g.152122441G=	GRCh38
NC_000006.11:g.152443576G= , CM000668.1:g.152443576G=	GRCh37
NC_000006.10:g.152485269G=	NCBI36
NG_012855.1:g.519959C=
NG_008493.2:g.470751G=
NG_012855.2:g.519959C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2923C= (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Leu975=
ENST00000367255.10:c.26389C= (SYNE1) MANE Select	ENSP00000356224.5:p.Leu8797=
ENST00000423061.6:c.26245C= (SYNE1)	ENSP00000396024.1:p.Leu8749=
ENST00000672154.1:c.1732C= (SYNE1)
ENST00000672169.1:c.2107C= (SYNE1)
ENST00000673173.1:c.1974C= (SYNE1)
ENST00000673451.1:c.2239C= (SYNE1)	ENSP00000500189.1:n.2239C=
ENST00000341594.9:c.25174C= (SYNE1)	ENSP00000341887.6:p.Leu8392=
ENST00000347037.9:n.3137C= (SYNE1)
ENST00000354674.4:c.2923C= (SYNE1)	ENSP00000346701.4:p.Leu975=
ENST00000367251.7:c.5165C= (SYNE1)	ENSP00000356220.3:n.5165C=
ENST00000367255.9:c.26389C= (SYNE1)	ENSP00000356224.5:p.Leu8797=
ENST00000367256.9:n.10081C= (SYNE1)
ENST00000367257.8:c.4268C= (SYNE1)	ENSP00000356226.4:n.4268C=
ENST00000409694.6:n.9973C= (SYNE1)
ENST00000423061.5:c.26245C= (SYNE1)	ENSP00000396024.1:p.Leu8749=
ENST00000427531.6:c.851-2825G= (ESR1)	ENSP00000394721.2:n.851-2825G=
ENST00000460912.6:n.3003C= (SYNE1)
ENST00000478916.5:n.7026C= (SYNE1)
ENST00000539504.5:c.2854C= (SYNE1)	ENSP00000441052.1:p.Leu952=
NM_033071.3:c.26245C= (SYNE1)	NP_149062.1:p.Leu8749=
NM_182961.3:c.26389C= (SYNE1)	NP_892006.3:p.Leu8797=
XM_006715407.1:c.26536C= (SYNE1)	XP_006715470.1:p.Leu8846=
XM_006715408.1:c.26524C= (SYNE1)	XP_006715471.1:p.Leu8842=
XM_006715409.1:c.26515C= (SYNE1)	XP_006715472.1:p.Leu8839=
XM_006715410.1:c.26494C= (SYNE1)	XP_006715473.1:p.Leu8832=
XM_006715411.1:c.26485C= (SYNE1)	XP_006715474.1:p.Leu8829=
XM_006715412.1:c.26479C= (SYNE1)	XP_006715475.1:p.Leu8827=
XM_006715413.1:c.26467C= (SYNE1)	XP_006715476.1:p.Leu8823=
XM_006715414.1:c.26464C= (SYNE1)	XP_006715477.1:p.Leu8822=
XM_006715415.1:c.26425C= (SYNE1)	XP_006715478.1:p.Leu8809=
XM_006715416.1:c.26410C= (SYNE1)	XP_006715479.1:p.Leu8804=
XM_006715417.1:c.26395C= (SYNE1)	XP_006715480.1:p.Leu8799=
XM_006715420.1:c.26383C= (SYNE1)	XP_006715483.1:p.Leu8795=
XM_006715421.1:c.26380C= (SYNE1)	XP_006715484.1:p.Leu8794=
XM_006715422.1:c.26377C= (SYNE1)	XP_006715485.1:p.Leu8793=
XM_006715423.1:c.*200C= (SYNE1)	XP_006715486.1:n.*200C=
XM_006715424.1:c.*200C= (SYNE1)	XP_006715487.1:n.*200C=
XM_006715425.1:c.*200C= (SYNE1)	XP_006715488.1:n.*200C=
XM_011535641.1:c.26533C= (SYNE1)	XP_011533943.1:p.Leu8845=
XM_011535642.1:c.26521C= (SYNE1)	XP_011533944.1:p.Leu8841=
XM_011535643.1:c.26371C= (SYNE1)	XP_011533945.1:p.Leu8791=
XM_011535644.1:c.24811C= (SYNE1)	XP_011533946.1:p.Leu8271=
XM_011535645.1:c.24304C= (SYNE1)	XP_011533947.1:p.Leu8102=
XM_011535647.1:c.19771C= (SYNE1)	XP_011533949.1:p.Leu6591=
NM_001328100.1:c.851-2825G= (ESR1)	NP_001315029.1:n.851-2825G=
NM_001347701.1:c.*200C= (SYNE1)	NP_001334630.1:n.*200C=
NM_001347702.1:c.2923C= (SYNE1)	NP_001334631.1:p.Leu975=
XM_006715408.2:c.26524C= (SYNE1)	XP_006715471.1:p.Leu8842=
XM_006715410.2:c.26494C= (SYNE1)	XP_006715473.1:p.Leu8832=
XM_006715412.2:c.26479C= (SYNE1)	XP_006715475.1:p.Leu8827=
XM_006715413.2:c.26467C= (SYNE1)	XP_006715476.1:p.Leu8823=
XM_006715415.2:c.26425C= (SYNE1)	XP_006715478.1:p.Leu8809=
XM_006715416.2:c.26410C= (SYNE1)	XP_006715479.1:p.Leu8804=
XM_006715417.2:c.26395C= (SYNE1)	XP_006715480.1:p.Leu8799=
XM_006715420.2:c.26383C= (SYNE1)	XP_006715483.1:p.Leu8795=
XM_006715421.2:c.26380C= (SYNE1)	XP_006715484.1:p.Leu8794=
XM_006715423.2:c.*200C= (SYNE1)	XP_006715486.1:n.*200C=
XM_006715424.2:c.*200C= (SYNE1)	XP_006715487.1:n.*200C=
XM_006715425.2:c.*200C= (SYNE1)	XP_006715488.1:n.*200C=
XM_011535641.2:c.26533C= (SYNE1)	XP_011533943.1:p.Leu8845=
XM_011535642.2:c.26521C= (SYNE1)	XP_011533944.1:p.Leu8841=
XM_011535645.2:c.24304C= (SYNE1)	XP_011533947.1:p.Leu8102=
XM_017010608.1:c.26536C= (SYNE1)	XP_016866097.1:p.Leu8846=
XM_017010609.1:c.26536C= (SYNE1)	XP_016866098.1:p.Leu8846=
XM_017010610.1:c.26515C= (SYNE1)	XP_016866099.1:p.Leu8839=
XM_017010611.2:c.26509C= (SYNE1)	XP_016866100.1:p.Leu8837=
XM_017010612.1:c.26458C= (SYNE1)	XP_016866101.1:p.Leu8820=
XM_017010613.1:c.26422C= (SYNE1)	XP_016866102.1:p.Leu8808=
XM_017010614.1:c.26380C= (SYNE1)	XP_016866103.1:p.Leu8794=
XM_017010615.1:c.26269C= (SYNE1)	XP_016866104.1:p.Leu8757=
XM_017010616.1:c.*200C= (SYNE1)	XP_016866105.1:n.*200C=
XM_017010617.1:c.*200C= (SYNE1)	XP_016866106.1:n.*200C=
XM_017010618.1:c.*200C= (SYNE1)	XP_016866107.1:n.*200C=
XM_017010619.1:c.24811C= (SYNE1)	XP_016866108.1:p.Leu8271=
NM_182961.4:c.26389C= (SYNE1) MANE Select	NP_892006.3:p.Leu8797=
NM_001328100.2:c.851-2825G= (ESR1)	NP_001315029.1:n.851-2825G=
NM_001347701.2:c.*200C= (SYNE1)	NP_001334630.1:n.*200C=
NM_001347702.2:c.2923C= (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Leu975=
NM_033071.5:c.26245C= (SYNE1)	NP_149062.2:p.Leu8749=