Canonical Allele Identifier: CA366089286

Gene: SYNE1 ESR1

Linked Data

• dbSNP Id: rs1226539151
• gnomAD v2: 6-152443811-C-T
• gnomAD v3: 6-152122676-C-T
• gnomAD v4: 6-152122676-C-T
• COSMIC: COSM6105333 ; COSM6105334 ; COSM6105335 ; COSM6105336 ; COSM6105337
• MyVariant Identifiers: chr6:g.152443811C>T (hg19) ; chr6:g.152122676C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122676C>T , CM000668.2:g.152122676C>T	GRCh38
NC_000006.11:g.152443811C>T , CM000668.1:g.152443811C>T	GRCh37
NC_000006.10:g.152485504C>T	NCBI36
NG_012855.1:g.519724G>A
NG_008493.2:g.470986C>T
NG_012855.2:g.519724G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2688G>A (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Arg896=
ENST00000367255.10:c.26154G>A (SYNE1) MANE Select	ENSP00000356224.5:p.Arg8718=
ENST00000423061.6:c.26010G>A (SYNE1)	ENSP00000396024.1:p.Arg8670=
ENST00000672154.1:c.1497G>A (SYNE1)
ENST00000672169.1:c.1872G>A (SYNE1)
ENST00000673173.1:c.1739G>A (SYNE1)
ENST00000673451.1:c.2004G>A (SYNE1)	ENSP00000500189.1:n.2004G>A
ENST00000341594.9:c.24939G>A (SYNE1)	ENSP00000341887.6:p.Arg8313=
ENST00000347037.9:n.2902G>A (SYNE1)
ENST00000354674.4:c.2688G>A (SYNE1)	ENSP00000346701.4:p.Arg896=
ENST00000367251.7:c.4930G>A (SYNE1)	ENSP00000356220.3:p.Val1644Ile
ENST00000367255.9:c.26154G>A (SYNE1)	ENSP00000356224.5:p.Arg8718=
ENST00000367256.9:n.9846G>A (SYNE1)
ENST00000367257.8:c.4033G>A (SYNE1)	ENSP00000356226.4:p.Val1345Ile
ENST00000409694.6:n.9738G>A (SYNE1)
ENST00000423061.5:c.26010G>A (SYNE1)	ENSP00000396024.1:p.Arg8670=
ENST00000427531.6:c.851-2590C>T (ESR1)	ENSP00000394721.2:n.851-2590C>T
ENST00000460912.6:n.2768G>A (SYNE1)
ENST00000478916.5:n.6791G>A (SYNE1)
ENST00000536990.5:n.2932G>A (SYNE1)
ENST00000539504.5:c.2619G>A (SYNE1)	ENSP00000441052.1:p.Arg873=
NM_033071.3:c.26010G>A (SYNE1)	NP_149062.1:p.Arg8670=
NM_182961.3:c.26154G>A (SYNE1)	NP_892006.3:p.Arg8718=
XM_006715407.1:c.26301G>A (SYNE1)	XP_006715470.1:p.Arg8767=
XM_006715408.1:c.26289G>A (SYNE1)	XP_006715471.1:p.Arg8763=
XM_006715409.1:c.26280G>A (SYNE1)	XP_006715472.1:p.Arg8760=
XM_006715410.1:c.26259G>A (SYNE1)	XP_006715473.1:p.Arg8753=
XM_006715411.1:c.26250G>A (SYNE1)	XP_006715474.1:p.Arg8750=
XM_006715412.1:c.26244G>A (SYNE1)	XP_006715475.1:p.Arg8748=
XM_006715413.1:c.26232G>A (SYNE1)	XP_006715476.1:p.Arg8744=
XM_006715414.1:c.26229G>A (SYNE1)	XP_006715477.1:p.Arg8743=
XM_006715415.1:c.26190G>A (SYNE1)	XP_006715478.1:p.Arg8730=
XM_006715416.1:c.26175G>A (SYNE1)	XP_006715479.1:p.Arg8725=
XM_006715417.1:c.26160G>A (SYNE1)	XP_006715480.1:p.Arg8720=
XM_006715420.1:c.26148G>A (SYNE1)	XP_006715483.1:p.Arg8716=
XM_006715421.1:c.26145G>A (SYNE1)	XP_006715484.1:p.Arg8715=
XM_006715422.1:c.26142G>A (SYNE1)	XP_006715485.1:p.Arg8714=
XM_006715423.1:c.26242G>A (SYNE1)	XP_006715486.1:p.Val8748Ile
XM_006715424.1:c.26200G>A (SYNE1)	XP_006715487.1:p.Val8734Ile
XM_006715425.1:c.26131G>A (SYNE1)	XP_006715488.1:p.Val8711Ile
XM_011535641.1:c.26298G>A (SYNE1)	XP_011533943.1:p.Arg8766=
XM_011535642.1:c.26286G>A (SYNE1)	XP_011533944.1:p.Arg8762=
XM_011535643.1:c.26136G>A (SYNE1)	XP_011533945.1:p.Arg8712=
XM_011535644.1:c.24576G>A (SYNE1)	XP_011533946.1:p.Arg8192=
XM_011535645.1:c.24069G>A (SYNE1)	XP_011533947.1:p.Arg8023=
XM_011535647.1:c.19536G>A (SYNE1)	XP_011533949.1:p.Arg6512=
NM_001328100.1:c.851-2590C>T (ESR1)	NP_001315029.1:n.851-2590C>T
NM_001347701.1:c.2701G>A (SYNE1)	NP_001334630.1:p.Val901Ile
NM_001347702.1:c.2688G>A (SYNE1)	NP_001334631.1:p.Arg896=
XM_006715408.2:c.26289G>A (SYNE1)	XP_006715471.1:p.Arg8763=
XM_006715410.2:c.26259G>A (SYNE1)	XP_006715473.1:p.Arg8753=
XM_006715412.2:c.26244G>A (SYNE1)	XP_006715475.1:p.Arg8748=
XM_006715413.2:c.26232G>A (SYNE1)	XP_006715476.1:p.Arg8744=
XM_006715415.2:c.26190G>A (SYNE1)	XP_006715478.1:p.Arg8730=
XM_006715416.2:c.26175G>A (SYNE1)	XP_006715479.1:p.Arg8725=
XM_006715417.2:c.26160G>A (SYNE1)	XP_006715480.1:p.Arg8720=
XM_006715420.2:c.26148G>A (SYNE1)	XP_006715483.1:p.Arg8716=
XM_006715421.2:c.26145G>A (SYNE1)	XP_006715484.1:p.Arg8715=
XM_006715423.2:c.26242G>A (SYNE1)	XP_006715486.1:p.Val8748Ile
XM_006715424.2:c.26200G>A (SYNE1)	XP_006715487.1:p.Val8734Ile
XM_006715425.2:c.26131G>A (SYNE1)	XP_006715488.1:p.Val8711Ile
XM_011535641.2:c.26298G>A (SYNE1)	XP_011533943.1:p.Arg8766=
XM_011535642.2:c.26286G>A (SYNE1)	XP_011533944.1:p.Arg8762=
XM_011535645.2:c.24069G>A (SYNE1)	XP_011533947.1:p.Arg8023=
XM_017010608.1:c.26301G>A (SYNE1)	XP_016866097.1:p.Arg8767=
XM_017010609.1:c.26301G>A (SYNE1)	XP_016866098.1:p.Arg8767=
XM_017010610.1:c.26280G>A (SYNE1)	XP_016866099.1:p.Arg8760=
XM_017010611.2:c.26274G>A (SYNE1)	XP_016866100.1:p.Arg8758=
XM_017010612.1:c.26223G>A (SYNE1)	XP_016866101.1:p.Arg8741=
XM_017010613.1:c.26187G>A (SYNE1)	XP_016866102.1:p.Arg8729=
XM_017010614.1:c.26145G>A (SYNE1)	XP_016866103.1:p.Arg8715=
XM_017010615.1:c.26034G>A (SYNE1)	XP_016866104.1:p.Arg8678=
XM_017010616.1:c.26173G>A (SYNE1)	XP_016866105.1:p.Val8725Ile
XM_017010617.1:c.26128G>A (SYNE1)	XP_016866106.1:p.Val8710Ile
XM_017010618.1:c.26116G>A (SYNE1)	XP_016866107.1:p.Val8706Ile
XM_017010619.1:c.24576G>A (SYNE1)	XP_016866108.1:p.Arg8192=
NM_182961.4:c.26154G>A (SYNE1) MANE Select	NP_892006.3:p.Arg8718=
NM_001328100.2:c.851-2590C>T (ESR1)	NP_001315029.1:n.851-2590C>T
NM_001347701.2:c.2701G>A (SYNE1)	NP_001334630.1:p.Val901Ile
NM_001347702.2:c.2688G>A (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Arg896=
NM_033071.5:c.26010G>A (SYNE1)	NP_149062.2:p.Arg8670=