Canonical Allele Identifier: CA366088586

Gene: SYNE1 ESR1

Linked Data

• dbSNP Id: rs2051629588
• MyVariant Identifiers: chr6:g.152443624C>T (hg19) ; chr6:g.152122489C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122489C>T , CM000668.2:g.152122489C>T	GRCh38
NC_000006.11:g.152443624C>T , CM000668.1:g.152443624C>T	GRCh37
NC_000006.10:g.152485317C>T	NCBI36
NG_012855.1:g.519911G>A
NG_008493.2:g.470799C>T
NG_012855.2:g.519911G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2875G>A (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Ala959Thr
ENST00000367255.10:c.26341G>A (SYNE1) MANE Select	ENSP00000356224.5:p.Ala8781Thr
ENST00000423061.6:c.26197G>A (SYNE1)	ENSP00000396024.1:p.Ala8733Thr
ENST00000672154.1:c.1684G>A (SYNE1)
ENST00000672169.1:c.2059G>A (SYNE1)
ENST00000673173.1:c.1926G>A (SYNE1)
ENST00000673451.1:c.2191G>A (SYNE1)	ENSP00000500189.1:n.2191G>A
ENST00000341594.9:c.25126G>A (SYNE1)	ENSP00000341887.6:p.Ala8376Thr
ENST00000347037.9:n.3089G>A (SYNE1)
ENST00000354674.4:c.2875G>A (SYNE1)	ENSP00000346701.4:p.Ala959Thr
ENST00000367251.7:c.5117G>A (SYNE1)	ENSP00000356220.3:n.5117G>A
ENST00000367255.9:c.26341G>A (SYNE1)	ENSP00000356224.5:p.Ala8781Thr
ENST00000367256.9:n.10033G>A (SYNE1)
ENST00000367257.8:c.4220G>A (SYNE1)	ENSP00000356226.4:n.4220G>A
ENST00000409694.6:n.9925G>A (SYNE1)
ENST00000423061.5:c.26197G>A (SYNE1)	ENSP00000396024.1:p.Ala8733Thr
ENST00000427531.6:c.851-2777C>T (ESR1)	ENSP00000394721.2:n.851-2777C>T
ENST00000460912.6:n.2955G>A (SYNE1)
ENST00000478916.5:n.6978G>A (SYNE1)
ENST00000539504.5:c.2806G>A (SYNE1)	ENSP00000441052.1:p.Ala936Thr
NM_033071.3:c.26197G>A (SYNE1)	NP_149062.1:p.Ala8733Thr
NM_182961.3:c.26341G>A (SYNE1)	NP_892006.3:p.Ala8781Thr
XM_006715407.1:c.26488G>A (SYNE1)	XP_006715470.1:p.Ala8830Thr
XM_006715408.1:c.26476G>A (SYNE1)	XP_006715471.1:p.Ala8826Thr
XM_006715409.1:c.26467G>A (SYNE1)	XP_006715472.1:p.Ala8823Thr
XM_006715410.1:c.26446G>A (SYNE1)	XP_006715473.1:p.Ala8816Thr
XM_006715411.1:c.26437G>A (SYNE1)	XP_006715474.1:p.Ala8813Thr
XM_006715412.1:c.26431G>A (SYNE1)	XP_006715475.1:p.Ala8811Thr
XM_006715413.1:c.26419G>A (SYNE1)	XP_006715476.1:p.Ala8807Thr
XM_006715414.1:c.26416G>A (SYNE1)	XP_006715477.1:p.Ala8806Thr
XM_006715415.1:c.26377G>A (SYNE1)	XP_006715478.1:p.Ala8793Thr
XM_006715416.1:c.26362G>A (SYNE1)	XP_006715479.1:p.Ala8788Thr
XM_006715417.1:c.26347G>A (SYNE1)	XP_006715480.1:p.Ala8783Thr
XM_006715420.1:c.26335G>A (SYNE1)	XP_006715483.1:p.Ala8779Thr
XM_006715421.1:c.26332G>A (SYNE1)	XP_006715484.1:p.Ala8778Thr
XM_006715422.1:c.26329G>A (SYNE1)	XP_006715485.1:p.Ala8777Thr
XM_006715423.1:c.*152G>A (SYNE1)	XP_006715486.1:n.*152G>A
XM_006715424.1:c.*152G>A (SYNE1)	XP_006715487.1:n.*152G>A
XM_006715425.1:c.*152G>A (SYNE1)	XP_006715488.1:n.*152G>A
XM_011535641.1:c.26485G>A (SYNE1)	XP_011533943.1:p.Ala8829Thr
XM_011535642.1:c.26473G>A (SYNE1)	XP_011533944.1:p.Ala8825Thr
XM_011535643.1:c.26323G>A (SYNE1)	XP_011533945.1:p.Ala8775Thr
XM_011535644.1:c.24763G>A (SYNE1)	XP_011533946.1:p.Ala8255Thr
XM_011535645.1:c.24256G>A (SYNE1)	XP_011533947.1:p.Ala8086Thr
XM_011535647.1:c.19723G>A (SYNE1)	XP_011533949.1:p.Ala6575Thr
NM_001328100.1:c.851-2777C>T (ESR1)	NP_001315029.1:n.851-2777C>T
NM_001347701.1:c.*152G>A (SYNE1)	NP_001334630.1:n.*152G>A
NM_001347702.1:c.2875G>A (SYNE1)	NP_001334631.1:p.Ala959Thr
XM_006715408.2:c.26476G>A (SYNE1)	XP_006715471.1:p.Ala8826Thr
XM_006715410.2:c.26446G>A (SYNE1)	XP_006715473.1:p.Ala8816Thr
XM_006715412.2:c.26431G>A (SYNE1)	XP_006715475.1:p.Ala8811Thr
XM_006715413.2:c.26419G>A (SYNE1)	XP_006715476.1:p.Ala8807Thr
XM_006715415.2:c.26377G>A (SYNE1)	XP_006715478.1:p.Ala8793Thr
XM_006715416.2:c.26362G>A (SYNE1)	XP_006715479.1:p.Ala8788Thr
XM_006715417.2:c.26347G>A (SYNE1)	XP_006715480.1:p.Ala8783Thr
XM_006715420.2:c.26335G>A (SYNE1)	XP_006715483.1:p.Ala8779Thr
XM_006715421.2:c.26332G>A (SYNE1)	XP_006715484.1:p.Ala8778Thr
XM_006715423.2:c.*152G>A (SYNE1)	XP_006715486.1:n.*152G>A
XM_006715424.2:c.*152G>A (SYNE1)	XP_006715487.1:n.*152G>A
XM_006715425.2:c.*152G>A (SYNE1)	XP_006715488.1:n.*152G>A
XM_011535641.2:c.26485G>A (SYNE1)	XP_011533943.1:p.Ala8829Thr
XM_011535642.2:c.26473G>A (SYNE1)	XP_011533944.1:p.Ala8825Thr
XM_011535645.2:c.24256G>A (SYNE1)	XP_011533947.1:p.Ala8086Thr
XM_017010608.1:c.26488G>A (SYNE1)	XP_016866097.1:p.Ala8830Thr
XM_017010609.1:c.26488G>A (SYNE1)	XP_016866098.1:p.Ala8830Thr
XM_017010610.1:c.26467G>A (SYNE1)	XP_016866099.1:p.Ala8823Thr
XM_017010611.2:c.26461G>A (SYNE1)	XP_016866100.1:p.Ala8821Thr
XM_017010612.1:c.26410G>A (SYNE1)	XP_016866101.1:p.Ala8804Thr
XM_017010613.1:c.26374G>A (SYNE1)	XP_016866102.1:p.Ala8792Thr
XM_017010614.1:c.26332G>A (SYNE1)	XP_016866103.1:p.Ala8778Thr
XM_017010615.1:c.26221G>A (SYNE1)	XP_016866104.1:p.Ala8741Thr
XM_017010616.1:c.*152G>A (SYNE1)	XP_016866105.1:n.*152G>A
XM_017010617.1:c.*152G>A (SYNE1)	XP_016866106.1:n.*152G>A
XM_017010618.1:c.*152G>A (SYNE1)	XP_016866107.1:n.*152G>A
XM_017010619.1:c.24763G>A (SYNE1)	XP_016866108.1:p.Ala8255Thr
NM_182961.4:c.26341G>A (SYNE1) MANE Select	NP_892006.3:p.Ala8781Thr
NM_001328100.2:c.851-2777C>T (ESR1)	NP_001315029.1:n.851-2777C>T
NM_001347701.2:c.*152G>A (SYNE1)	NP_001334630.1:n.*152G>A
NM_001347702.2:c.2875G>A (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Ala959Thr
NM_033071.5:c.26197G>A (SYNE1)	NP_149062.2:p.Ala8733Thr