Canonical Allele Identifier: CA366088672

Gene: SYNE1 ESR1

Linked Data

• dbSNP Id: rs2051638572
• MyVariant Identifiers: chr6:g.152443642C>T (hg19) ; chr6:g.152122507C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122507C>T , CM000668.2:g.152122507C>T	GRCh38
NC_000006.11:g.152443642C>T , CM000668.1:g.152443642C>T	GRCh37
NC_000006.10:g.152485335C>T	NCBI36
NG_012855.1:g.519893G>A
NG_008493.2:g.470817C>T
NG_012855.2:g.519893G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2857G>A (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Ala953Thr
ENST00000367255.10:c.26323G>A (SYNE1) MANE Select	ENSP00000356224.5:p.Ala8775Thr
ENST00000423061.6:c.26179G>A (SYNE1)	ENSP00000396024.1:p.Ala8727Thr
ENST00000672154.1:c.1666G>A (SYNE1)
ENST00000672169.1:c.2041G>A (SYNE1)
ENST00000673173.1:c.1908G>A (SYNE1)
ENST00000673451.1:c.2173G>A (SYNE1)	ENSP00000500189.1:n.2173G>A
ENST00000341594.9:c.25108G>A (SYNE1)	ENSP00000341887.6:p.Ala8370Thr
ENST00000347037.9:n.3071G>A (SYNE1)
ENST00000354674.4:c.2857G>A (SYNE1)	ENSP00000346701.4:p.Ala953Thr
ENST00000367251.7:c.5099G>A (SYNE1)	ENSP00000356220.3:n.5099G>A
ENST00000367255.9:c.26323G>A (SYNE1)	ENSP00000356224.5:p.Ala8775Thr
ENST00000367256.9:n.10015G>A (SYNE1)
ENST00000367257.8:c.4202G>A (SYNE1)	ENSP00000356226.4:n.4202G>A
ENST00000409694.6:n.9907G>A (SYNE1)
ENST00000423061.5:c.26179G>A (SYNE1)	ENSP00000396024.1:p.Ala8727Thr
ENST00000427531.6:c.851-2759C>T (ESR1)	ENSP00000394721.2:n.851-2759C>T
ENST00000460912.6:n.2937G>A (SYNE1)
ENST00000478916.5:n.6960G>A (SYNE1)
ENST00000539504.5:c.2788G>A (SYNE1)	ENSP00000441052.1:p.Ala930Thr
NM_033071.3:c.26179G>A (SYNE1)	NP_149062.1:p.Ala8727Thr
NM_182961.3:c.26323G>A (SYNE1)	NP_892006.3:p.Ala8775Thr
XM_006715407.1:c.26470G>A (SYNE1)	XP_006715470.1:p.Ala8824Thr
XM_006715408.1:c.26458G>A (SYNE1)	XP_006715471.1:p.Ala8820Thr
XM_006715409.1:c.26449G>A (SYNE1)	XP_006715472.1:p.Ala8817Thr
XM_006715410.1:c.26428G>A (SYNE1)	XP_006715473.1:p.Ala8810Thr
XM_006715411.1:c.26419G>A (SYNE1)	XP_006715474.1:p.Ala8807Thr
XM_006715412.1:c.26413G>A (SYNE1)	XP_006715475.1:p.Ala8805Thr
XM_006715413.1:c.26401G>A (SYNE1)	XP_006715476.1:p.Ala8801Thr
XM_006715414.1:c.26398G>A (SYNE1)	XP_006715477.1:p.Ala8800Thr
XM_006715415.1:c.26359G>A (SYNE1)	XP_006715478.1:p.Ala8787Thr
XM_006715416.1:c.26344G>A (SYNE1)	XP_006715479.1:p.Ala8782Thr
XM_006715417.1:c.26329G>A (SYNE1)	XP_006715480.1:p.Ala8777Thr
XM_006715420.1:c.26317G>A (SYNE1)	XP_006715483.1:p.Ala8773Thr
XM_006715421.1:c.26314G>A (SYNE1)	XP_006715484.1:p.Ala8772Thr
XM_006715422.1:c.26311G>A (SYNE1)	XP_006715485.1:p.Ala8771Thr
XM_006715423.1:c.*134G>A (SYNE1)	XP_006715486.1:n.*134G>A
XM_006715424.1:c.*134G>A (SYNE1)	XP_006715487.1:n.*134G>A
XM_006715425.1:c.*134G>A (SYNE1)	XP_006715488.1:n.*134G>A
XM_011535641.1:c.26467G>A (SYNE1)	XP_011533943.1:p.Ala8823Thr
XM_011535642.1:c.26455G>A (SYNE1)	XP_011533944.1:p.Ala8819Thr
XM_011535643.1:c.26305G>A (SYNE1)	XP_011533945.1:p.Ala8769Thr
XM_011535644.1:c.24745G>A (SYNE1)	XP_011533946.1:p.Ala8249Thr
XM_011535645.1:c.24238G>A (SYNE1)	XP_011533947.1:p.Ala8080Thr
XM_011535647.1:c.19705G>A (SYNE1)	XP_011533949.1:p.Ala6569Thr
NM_001328100.1:c.851-2759C>T (ESR1)	NP_001315029.1:n.851-2759C>T
NM_001347701.1:c.*134G>A (SYNE1)	NP_001334630.1:n.*134G>A
NM_001347702.1:c.2857G>A (SYNE1)	NP_001334631.1:p.Ala953Thr
XM_006715408.2:c.26458G>A (SYNE1)	XP_006715471.1:p.Ala8820Thr
XM_006715410.2:c.26428G>A (SYNE1)	XP_006715473.1:p.Ala8810Thr
XM_006715412.2:c.26413G>A (SYNE1)	XP_006715475.1:p.Ala8805Thr
XM_006715413.2:c.26401G>A (SYNE1)	XP_006715476.1:p.Ala8801Thr
XM_006715415.2:c.26359G>A (SYNE1)	XP_006715478.1:p.Ala8787Thr
XM_006715416.2:c.26344G>A (SYNE1)	XP_006715479.1:p.Ala8782Thr
XM_006715417.2:c.26329G>A (SYNE1)	XP_006715480.1:p.Ala8777Thr
XM_006715420.2:c.26317G>A (SYNE1)	XP_006715483.1:p.Ala8773Thr
XM_006715421.2:c.26314G>A (SYNE1)	XP_006715484.1:p.Ala8772Thr
XM_006715423.2:c.*134G>A (SYNE1)	XP_006715486.1:n.*134G>A
XM_006715424.2:c.*134G>A (SYNE1)	XP_006715487.1:n.*134G>A
XM_006715425.2:c.*134G>A (SYNE1)	XP_006715488.1:n.*134G>A
XM_011535641.2:c.26467G>A (SYNE1)	XP_011533943.1:p.Ala8823Thr
XM_011535642.2:c.26455G>A (SYNE1)	XP_011533944.1:p.Ala8819Thr
XM_011535645.2:c.24238G>A (SYNE1)	XP_011533947.1:p.Ala8080Thr
XM_017010608.1:c.26470G>A (SYNE1)	XP_016866097.1:p.Ala8824Thr
XM_017010609.1:c.26470G>A (SYNE1)	XP_016866098.1:p.Ala8824Thr
XM_017010610.1:c.26449G>A (SYNE1)	XP_016866099.1:p.Ala8817Thr
XM_017010611.2:c.26443G>A (SYNE1)	XP_016866100.1:p.Ala8815Thr
XM_017010612.1:c.26392G>A (SYNE1)	XP_016866101.1:p.Ala8798Thr
XM_017010613.1:c.26356G>A (SYNE1)	XP_016866102.1:p.Ala8786Thr
XM_017010614.1:c.26314G>A (SYNE1)	XP_016866103.1:p.Ala8772Thr
XM_017010615.1:c.26203G>A (SYNE1)	XP_016866104.1:p.Ala8735Thr
XM_017010616.1:c.*134G>A (SYNE1)	XP_016866105.1:n.*134G>A
XM_017010617.1:c.*134G>A (SYNE1)	XP_016866106.1:n.*134G>A
XM_017010618.1:c.*134G>A (SYNE1)	XP_016866107.1:n.*134G>A
XM_017010619.1:c.24745G>A (SYNE1)	XP_016866108.1:p.Ala8249Thr
NM_182961.4:c.26323G>A (SYNE1) MANE Select	NP_892006.3:p.Ala8775Thr
NM_001328100.2:c.851-2759C>T (ESR1)	NP_001315029.1:n.851-2759C>T
NM_001347701.2:c.*134G>A (SYNE1)	NP_001334630.1:n.*134G>A
NM_001347702.2:c.2857G>A (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Ala953Thr
NM_033071.5:c.26179G>A (SYNE1)	NP_149062.2:p.Ala8727Thr