Canonical Allele Identifier: CA366088588

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443625A>C (hg19) ; chr6:g.152122490A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122490A>C , CM000668.2:g.152122490A>C	GRCh38
NC_000006.11:g.152443625A>C , CM000668.1:g.152443625A>C	GRCh37
NC_000006.10:g.152485318A>C	NCBI36
NG_012855.1:g.519910T>G
NG_008493.2:g.470800A>C
NG_012855.2:g.519910T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2874T>G (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Phe958Leu
ENST00000367255.10:c.26340T>G (SYNE1) MANE Select	ENSP00000356224.5:p.Phe8780Leu
ENST00000423061.6:c.26196T>G (SYNE1)	ENSP00000396024.1:p.Phe8732Leu
ENST00000672154.1:c.1683T>G (SYNE1)
ENST00000672169.1:c.2058T>G (SYNE1)
ENST00000673173.1:c.1925T>G (SYNE1)
ENST00000673451.1:c.2190T>G (SYNE1)	ENSP00000500189.1:n.2190T>G
ENST00000341594.9:c.25125T>G (SYNE1)	ENSP00000341887.6:p.Phe8375Leu
ENST00000347037.9:n.3088T>G (SYNE1)
ENST00000354674.4:c.2874T>G (SYNE1)	ENSP00000346701.4:p.Phe958Leu
ENST00000367251.7:c.5116T>G (SYNE1)	ENSP00000356220.3:n.5116T>G
ENST00000367255.9:c.26340T>G (SYNE1)	ENSP00000356224.5:p.Phe8780Leu
ENST00000367256.9:n.10032T>G (SYNE1)
ENST00000367257.8:c.4219T>G (SYNE1)	ENSP00000356226.4:n.4219T>G
ENST00000409694.6:n.9924T>G (SYNE1)
ENST00000423061.5:c.26196T>G (SYNE1)	ENSP00000396024.1:p.Phe8732Leu
ENST00000427531.6:c.851-2776A>C (ESR1)	ENSP00000394721.2:n.851-2776A>C
ENST00000460912.6:n.2954T>G (SYNE1)
ENST00000478916.5:n.6977T>G (SYNE1)
ENST00000539504.5:c.2805T>G (SYNE1)	ENSP00000441052.1:p.Phe935Leu
NM_033071.3:c.26196T>G (SYNE1)	NP_149062.1:p.Phe8732Leu
NM_182961.3:c.26340T>G (SYNE1)	NP_892006.3:p.Phe8780Leu
XM_006715407.1:c.26487T>G (SYNE1)	XP_006715470.1:p.Phe8829Leu
XM_006715408.1:c.26475T>G (SYNE1)	XP_006715471.1:p.Phe8825Leu
XM_006715409.1:c.26466T>G (SYNE1)	XP_006715472.1:p.Phe8822Leu
XM_006715410.1:c.26445T>G (SYNE1)	XP_006715473.1:p.Phe8815Leu
XM_006715411.1:c.26436T>G (SYNE1)	XP_006715474.1:p.Phe8812Leu
XM_006715412.1:c.26430T>G (SYNE1)	XP_006715475.1:p.Phe8810Leu
XM_006715413.1:c.26418T>G (SYNE1)	XP_006715476.1:p.Phe8806Leu
XM_006715414.1:c.26415T>G (SYNE1)	XP_006715477.1:p.Phe8805Leu
XM_006715415.1:c.26376T>G (SYNE1)	XP_006715478.1:p.Phe8792Leu
XM_006715416.1:c.26361T>G (SYNE1)	XP_006715479.1:p.Phe8787Leu
XM_006715417.1:c.26346T>G (SYNE1)	XP_006715480.1:p.Phe8782Leu
XM_006715420.1:c.26334T>G (SYNE1)	XP_006715483.1:p.Phe8778Leu
XM_006715421.1:c.26331T>G (SYNE1)	XP_006715484.1:p.Phe8777Leu
XM_006715422.1:c.26328T>G (SYNE1)	XP_006715485.1:p.Phe8776Leu
XM_006715423.1:c.*151T>G (SYNE1)	XP_006715486.1:n.*151T>G
XM_006715424.1:c.*151T>G (SYNE1)	XP_006715487.1:n.*151T>G
XM_006715425.1:c.*151T>G (SYNE1)	XP_006715488.1:n.*151T>G
XM_011535641.1:c.26484T>G (SYNE1)	XP_011533943.1:p.Phe8828Leu
XM_011535642.1:c.26472T>G (SYNE1)	XP_011533944.1:p.Phe8824Leu
XM_011535643.1:c.26322T>G (SYNE1)	XP_011533945.1:p.Phe8774Leu
XM_011535644.1:c.24762T>G (SYNE1)	XP_011533946.1:p.Phe8254Leu
XM_011535645.1:c.24255T>G (SYNE1)	XP_011533947.1:p.Phe8085Leu
XM_011535647.1:c.19722T>G (SYNE1)	XP_011533949.1:p.Phe6574Leu
NM_001328100.1:c.851-2776A>C (ESR1)	NP_001315029.1:n.851-2776A>C
NM_001347701.1:c.*151T>G (SYNE1)	NP_001334630.1:n.*151T>G
NM_001347702.1:c.2874T>G (SYNE1)	NP_001334631.1:p.Phe958Leu
XM_006715408.2:c.26475T>G (SYNE1)	XP_006715471.1:p.Phe8825Leu
XM_006715410.2:c.26445T>G (SYNE1)	XP_006715473.1:p.Phe8815Leu
XM_006715412.2:c.26430T>G (SYNE1)	XP_006715475.1:p.Phe8810Leu
XM_006715413.2:c.26418T>G (SYNE1)	XP_006715476.1:p.Phe8806Leu
XM_006715415.2:c.26376T>G (SYNE1)	XP_006715478.1:p.Phe8792Leu
XM_006715416.2:c.26361T>G (SYNE1)	XP_006715479.1:p.Phe8787Leu
XM_006715417.2:c.26346T>G (SYNE1)	XP_006715480.1:p.Phe8782Leu
XM_006715420.2:c.26334T>G (SYNE1)	XP_006715483.1:p.Phe8778Leu
XM_006715421.2:c.26331T>G (SYNE1)	XP_006715484.1:p.Phe8777Leu
XM_006715423.2:c.*151T>G (SYNE1)	XP_006715486.1:n.*151T>G
XM_006715424.2:c.*151T>G (SYNE1)	XP_006715487.1:n.*151T>G
XM_006715425.2:c.*151T>G (SYNE1)	XP_006715488.1:n.*151T>G
XM_011535641.2:c.26484T>G (SYNE1)	XP_011533943.1:p.Phe8828Leu
XM_011535642.2:c.26472T>G (SYNE1)	XP_011533944.1:p.Phe8824Leu
XM_011535645.2:c.24255T>G (SYNE1)	XP_011533947.1:p.Phe8085Leu
XM_017010608.1:c.26487T>G (SYNE1)	XP_016866097.1:p.Phe8829Leu
XM_017010609.1:c.26487T>G (SYNE1)	XP_016866098.1:p.Phe8829Leu
XM_017010610.1:c.26466T>G (SYNE1)	XP_016866099.1:p.Phe8822Leu
XM_017010611.2:c.26460T>G (SYNE1)	XP_016866100.1:p.Phe8820Leu
XM_017010612.1:c.26409T>G (SYNE1)	XP_016866101.1:p.Phe8803Leu
XM_017010613.1:c.26373T>G (SYNE1)	XP_016866102.1:p.Phe8791Leu
XM_017010614.1:c.26331T>G (SYNE1)	XP_016866103.1:p.Phe8777Leu
XM_017010615.1:c.26220T>G (SYNE1)	XP_016866104.1:p.Phe8740Leu
XM_017010616.1:c.*151T>G (SYNE1)	XP_016866105.1:n.*151T>G
XM_017010617.1:c.*151T>G (SYNE1)	XP_016866106.1:n.*151T>G
XM_017010618.1:c.*151T>G (SYNE1)	XP_016866107.1:n.*151T>G
XM_017010619.1:c.24762T>G (SYNE1)	XP_016866108.1:p.Phe8254Leu
NM_182961.4:c.26340T>G (SYNE1) MANE Select	NP_892006.3:p.Phe8780Leu
NM_001328100.2:c.851-2776A>C (ESR1)	NP_001315029.1:n.851-2776A>C
NM_001347701.2:c.*151T>G (SYNE1)	NP_001334630.1:n.*151T>G
NM_001347702.2:c.2874T>G (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Phe958Leu
NM_033071.5:c.26196T>G (SYNE1)	NP_149062.2:p.Phe8732Leu