Canonical Allele Identifier: CA1673188713

Gene: SYNE1 ESR1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122449G= , CM000668.2:g.152122449G=	GRCh38
NC_000006.11:g.152443584G= , CM000668.1:g.152443584G=	GRCh37
NC_000006.10:g.152485277G=	NCBI36
NG_012855.1:g.519951C=
NG_008493.2:g.470759G=
NG_012855.2:g.519951C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2915C= (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Pro972=
ENST00000367255.10:c.26381C= (SYNE1) MANE Select	ENSP00000356224.5:p.Pro8794=
ENST00000423061.6:c.26237C= (SYNE1)	ENSP00000396024.1:p.Pro8746=
ENST00000672154.1:c.1724C= (SYNE1)
ENST00000672169.1:c.2099C= (SYNE1)
ENST00000673173.1:c.1966C= (SYNE1)
ENST00000673451.1:c.2231C= (SYNE1)	ENSP00000500189.1:n.2231C=
ENST00000341594.9:c.25166C= (SYNE1)	ENSP00000341887.6:p.Pro8389=
ENST00000347037.9:n.3129C= (SYNE1)
ENST00000354674.4:c.2915C= (SYNE1)	ENSP00000346701.4:p.Pro972=
ENST00000367251.7:c.5157C= (SYNE1)	ENSP00000356220.3:n.5157C=
ENST00000367255.9:c.26381C= (SYNE1)	ENSP00000356224.5:p.Pro8794=
ENST00000367256.9:n.10073C= (SYNE1)
ENST00000367257.8:c.4260C= (SYNE1)	ENSP00000356226.4:n.4260C=
ENST00000409694.6:n.9965C= (SYNE1)
ENST00000423061.5:c.26237C= (SYNE1)	ENSP00000396024.1:p.Pro8746=
ENST00000427531.6:c.851-2817G= (ESR1)	ENSP00000394721.2:n.851-2817G=
ENST00000460912.6:n.2995C= (SYNE1)
ENST00000478916.5:n.7018C= (SYNE1)
ENST00000539504.5:c.2846C= (SYNE1)	ENSP00000441052.1:p.Pro949=
NM_033071.3:c.26237C= (SYNE1)	NP_149062.1:p.Pro8746=
NM_182961.3:c.26381C= (SYNE1)	NP_892006.3:p.Pro8794=
XM_006715407.1:c.26528C= (SYNE1)	XP_006715470.1:p.Pro8843=
XM_006715408.1:c.26516C= (SYNE1)	XP_006715471.1:p.Pro8839=
XM_006715409.1:c.26507C= (SYNE1)	XP_006715472.1:p.Pro8836=
XM_006715410.1:c.26486C= (SYNE1)	XP_006715473.1:p.Pro8829=
XM_006715411.1:c.26477C= (SYNE1)	XP_006715474.1:p.Pro8826=
XM_006715412.1:c.26471C= (SYNE1)	XP_006715475.1:p.Pro8824=
XM_006715413.1:c.26459C= (SYNE1)	XP_006715476.1:p.Pro8820=
XM_006715414.1:c.26456C= (SYNE1)	XP_006715477.1:p.Pro8819=
XM_006715415.1:c.26417C= (SYNE1)	XP_006715478.1:p.Pro8806=
XM_006715416.1:c.26402C= (SYNE1)	XP_006715479.1:p.Pro8801=
XM_006715417.1:c.26387C= (SYNE1)	XP_006715480.1:p.Pro8796=
XM_006715420.1:c.26375C= (SYNE1)	XP_006715483.1:p.Pro8792=
XM_006715421.1:c.26372C= (SYNE1)	XP_006715484.1:p.Pro8791=
XM_006715422.1:c.26369C= (SYNE1)	XP_006715485.1:p.Pro8790=
XM_006715423.1:c.*192C= (SYNE1)	XP_006715486.1:n.*192C=
XM_006715424.1:c.*192C= (SYNE1)	XP_006715487.1:n.*192C=
XM_006715425.1:c.*192C= (SYNE1)	XP_006715488.1:n.*192C=
XM_011535641.1:c.26525C= (SYNE1)	XP_011533943.1:p.Pro8842=
XM_011535642.1:c.26513C= (SYNE1)	XP_011533944.1:p.Pro8838=
XM_011535643.1:c.26363C= (SYNE1)	XP_011533945.1:p.Pro8788=
XM_011535644.1:c.24803C= (SYNE1)	XP_011533946.1:p.Pro8268=
XM_011535645.1:c.24296C= (SYNE1)	XP_011533947.1:p.Pro8099=
XM_011535647.1:c.19763C= (SYNE1)	XP_011533949.1:p.Pro6588=
NM_001328100.1:c.851-2817G= (ESR1)	NP_001315029.1:n.851-2817G=
NM_001347701.1:c.*192C= (SYNE1)	NP_001334630.1:n.*192C=
NM_001347702.1:c.2915C= (SYNE1)	NP_001334631.1:p.Pro972=
XM_006715408.2:c.26516C= (SYNE1)	XP_006715471.1:p.Pro8839=
XM_006715410.2:c.26486C= (SYNE1)	XP_006715473.1:p.Pro8829=
XM_006715412.2:c.26471C= (SYNE1)	XP_006715475.1:p.Pro8824=
XM_006715413.2:c.26459C= (SYNE1)	XP_006715476.1:p.Pro8820=
XM_006715415.2:c.26417C= (SYNE1)	XP_006715478.1:p.Pro8806=
XM_006715416.2:c.26402C= (SYNE1)	XP_006715479.1:p.Pro8801=
XM_006715417.2:c.26387C= (SYNE1)	XP_006715480.1:p.Pro8796=
XM_006715420.2:c.26375C= (SYNE1)	XP_006715483.1:p.Pro8792=
XM_006715421.2:c.26372C= (SYNE1)	XP_006715484.1:p.Pro8791=
XM_006715423.2:c.*192C= (SYNE1)	XP_006715486.1:n.*192C=
XM_006715424.2:c.*192C= (SYNE1)	XP_006715487.1:n.*192C=
XM_006715425.2:c.*192C= (SYNE1)	XP_006715488.1:n.*192C=
XM_011535641.2:c.26525C= (SYNE1)	XP_011533943.1:p.Pro8842=
XM_011535642.2:c.26513C= (SYNE1)	XP_011533944.1:p.Pro8838=
XM_011535645.2:c.24296C= (SYNE1)	XP_011533947.1:p.Pro8099=
XM_017010608.1:c.26528C= (SYNE1)	XP_016866097.1:p.Pro8843=
XM_017010609.1:c.26528C= (SYNE1)	XP_016866098.1:p.Pro8843=
XM_017010610.1:c.26507C= (SYNE1)	XP_016866099.1:p.Pro8836=
XM_017010611.2:c.26501C= (SYNE1)	XP_016866100.1:p.Pro8834=
XM_017010612.1:c.26450C= (SYNE1)	XP_016866101.1:p.Pro8817=
XM_017010613.1:c.26414C= (SYNE1)	XP_016866102.1:p.Pro8805=
XM_017010614.1:c.26372C= (SYNE1)	XP_016866103.1:p.Pro8791=
XM_017010615.1:c.26261C= (SYNE1)	XP_016866104.1:p.Pro8754=
XM_017010616.1:c.*192C= (SYNE1)	XP_016866105.1:n.*192C=
XM_017010617.1:c.*192C= (SYNE1)	XP_016866106.1:n.*192C=
XM_017010618.1:c.*192C= (SYNE1)	XP_016866107.1:n.*192C=
XM_017010619.1:c.24803C= (SYNE1)	XP_016866108.1:p.Pro8268=
NM_182961.4:c.26381C= (SYNE1) MANE Select	NP_892006.3:p.Pro8794=
NM_001328100.2:c.851-2817G= (ESR1)	NP_001315029.1:n.851-2817G=
NM_001347701.2:c.*192C= (SYNE1)	NP_001334630.1:n.*192C=
NM_001347702.2:c.2915C= (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Pro972=
NM_033071.5:c.26237C= (SYNE1)	NP_149062.2:p.Pro8746=