Canonical Allele Identifier: CA4052584

Gene: SYNE1 ESR1

Linked Data

• dbSNP Id: rs770321987
• ExAC: 6:152443628 G / T
• gnomAD v2: 6-152443628-G-T
• gnomAD v4: 6-152122493-G-T
• MyVariant Identifiers: chr6:g.152443628G>T (hg19) ; chr6:g.152122493G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122493G>T , CM000668.2:g.152122493G>T	GRCh38
NC_000006.11:g.152443628G>T , CM000668.1:g.152443628G>T	GRCh37
NC_000006.10:g.152485321G>T	NCBI36
NG_012855.1:g.519907C>A
NG_008493.2:g.470803G>T
NG_012855.2:g.519907C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2871C>A (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Asn957Lys
ENST00000367255.10:c.26337C>A (SYNE1) MANE Select	ENSP00000356224.5:p.Asn8779Lys
ENST00000423061.6:c.26193C>A (SYNE1)	ENSP00000396024.1:p.Asn8731Lys
ENST00000672154.1:c.1680C>A (SYNE1)
ENST00000672169.1:c.2055C>A (SYNE1)
ENST00000673173.1:c.1922C>A (SYNE1)
ENST00000673451.1:c.2187C>A (SYNE1)	ENSP00000500189.1:n.2187C>A
ENST00000341594.9:c.25122C>A (SYNE1)	ENSP00000341887.6:p.Asn8374Lys
ENST00000347037.9:n.3085C>A (SYNE1)
ENST00000354674.4:c.2871C>A (SYNE1)	ENSP00000346701.4:p.Asn957Lys
ENST00000367251.7:c.5113C>A (SYNE1)	ENSP00000356220.3:n.5113C>A
ENST00000367255.9:c.26337C>A (SYNE1)	ENSP00000356224.5:p.Asn8779Lys
ENST00000367256.9:n.10029C>A (SYNE1)
ENST00000367257.8:c.4216C>A (SYNE1)	ENSP00000356226.4:n.4216C>A
ENST00000409694.6:n.9921C>A (SYNE1)
ENST00000423061.5:c.26193C>A (SYNE1)	ENSP00000396024.1:p.Asn8731Lys
ENST00000427531.6:c.851-2773G>T (ESR1)	ENSP00000394721.2:n.851-2773G>T
ENST00000460912.6:n.2951C>A (SYNE1)
ENST00000478916.5:n.6974C>A (SYNE1)
ENST00000539504.5:c.2802C>A (SYNE1)	ENSP00000441052.1:p.Asn934Lys
NM_033071.3:c.26193C>A (SYNE1)	NP_149062.1:p.Asn8731Lys
NM_182961.3:c.26337C>A (SYNE1)	NP_892006.3:p.Asn8779Lys
XM_006715407.1:c.26484C>A (SYNE1)	XP_006715470.1:p.Asn8828Lys
XM_006715408.1:c.26472C>A (SYNE1)	XP_006715471.1:p.Asn8824Lys
XM_006715409.1:c.26463C>A (SYNE1)	XP_006715472.1:p.Asn8821Lys
XM_006715410.1:c.26442C>A (SYNE1)	XP_006715473.1:p.Asn8814Lys
XM_006715411.1:c.26433C>A (SYNE1)	XP_006715474.1:p.Asn8811Lys
XM_006715412.1:c.26427C>A (SYNE1)	XP_006715475.1:p.Asn8809Lys
XM_006715413.1:c.26415C>A (SYNE1)	XP_006715476.1:p.Asn8805Lys
XM_006715414.1:c.26412C>A (SYNE1)	XP_006715477.1:p.Asn8804Lys
XM_006715415.1:c.26373C>A (SYNE1)	XP_006715478.1:p.Asn8791Lys
XM_006715416.1:c.26358C>A (SYNE1)	XP_006715479.1:p.Asn8786Lys
XM_006715417.1:c.26343C>A (SYNE1)	XP_006715480.1:p.Asn8781Lys
XM_006715420.1:c.26331C>A (SYNE1)	XP_006715483.1:p.Asn8777Lys
XM_006715421.1:c.26328C>A (SYNE1)	XP_006715484.1:p.Asn8776Lys
XM_006715422.1:c.26325C>A (SYNE1)	XP_006715485.1:p.Asn8775Lys
XM_006715423.1:c.*148C>A (SYNE1)	XP_006715486.1:n.*148C>A
XM_006715424.1:c.*148C>A (SYNE1)	XP_006715487.1:n.*148C>A
XM_006715425.1:c.*148C>A (SYNE1)	XP_006715488.1:n.*148C>A
XM_011535641.1:c.26481C>A (SYNE1)	XP_011533943.1:p.Asn8827Lys
XM_011535642.1:c.26469C>A (SYNE1)	XP_011533944.1:p.Asn8823Lys
XM_011535643.1:c.26319C>A (SYNE1)	XP_011533945.1:p.Asn8773Lys
XM_011535644.1:c.24759C>A (SYNE1)	XP_011533946.1:p.Asn8253Lys
XM_011535645.1:c.24252C>A (SYNE1)	XP_011533947.1:p.Asn8084Lys
XM_011535647.1:c.19719C>A (SYNE1)	XP_011533949.1:p.Asn6573Lys
NM_001328100.1:c.851-2773G>T (ESR1)	NP_001315029.1:n.851-2773G>T
NM_001347701.1:c.*148C>A (SYNE1)	NP_001334630.1:n.*148C>A
NM_001347702.1:c.2871C>A (SYNE1)	NP_001334631.1:p.Asn957Lys
XM_006715408.2:c.26472C>A (SYNE1)	XP_006715471.1:p.Asn8824Lys
XM_006715410.2:c.26442C>A (SYNE1)	XP_006715473.1:p.Asn8814Lys
XM_006715412.2:c.26427C>A (SYNE1)	XP_006715475.1:p.Asn8809Lys
XM_006715413.2:c.26415C>A (SYNE1)	XP_006715476.1:p.Asn8805Lys
XM_006715415.2:c.26373C>A (SYNE1)	XP_006715478.1:p.Asn8791Lys
XM_006715416.2:c.26358C>A (SYNE1)	XP_006715479.1:p.Asn8786Lys
XM_006715417.2:c.26343C>A (SYNE1)	XP_006715480.1:p.Asn8781Lys
XM_006715420.2:c.26331C>A (SYNE1)	XP_006715483.1:p.Asn8777Lys
XM_006715421.2:c.26328C>A (SYNE1)	XP_006715484.1:p.Asn8776Lys
XM_006715423.2:c.*148C>A (SYNE1)	XP_006715486.1:n.*148C>A
XM_006715424.2:c.*148C>A (SYNE1)	XP_006715487.1:n.*148C>A
XM_006715425.2:c.*148C>A (SYNE1)	XP_006715488.1:n.*148C>A
XM_011535641.2:c.26481C>A (SYNE1)	XP_011533943.1:p.Asn8827Lys
XM_011535642.2:c.26469C>A (SYNE1)	XP_011533944.1:p.Asn8823Lys
XM_011535645.2:c.24252C>A (SYNE1)	XP_011533947.1:p.Asn8084Lys
XM_017010608.1:c.26484C>A (SYNE1)	XP_016866097.1:p.Asn8828Lys
XM_017010609.1:c.26484C>A (SYNE1)	XP_016866098.1:p.Asn8828Lys
XM_017010610.1:c.26463C>A (SYNE1)	XP_016866099.1:p.Asn8821Lys
XM_017010611.2:c.26457C>A (SYNE1)	XP_016866100.1:p.Asn8819Lys
XM_017010612.1:c.26406C>A (SYNE1)	XP_016866101.1:p.Asn8802Lys
XM_017010613.1:c.26370C>A (SYNE1)	XP_016866102.1:p.Asn8790Lys
XM_017010614.1:c.26328C>A (SYNE1)	XP_016866103.1:p.Asn8776Lys
XM_017010615.1:c.26217C>A (SYNE1)	XP_016866104.1:p.Asn8739Lys
XM_017010616.1:c.*148C>A (SYNE1)	XP_016866105.1:n.*148C>A
XM_017010617.1:c.*148C>A (SYNE1)	XP_016866106.1:n.*148C>A
XM_017010618.1:c.*148C>A (SYNE1)	XP_016866107.1:n.*148C>A
XM_017010619.1:c.24759C>A (SYNE1)	XP_016866108.1:p.Asn8253Lys
NM_182961.4:c.26337C>A (SYNE1) MANE Select	NP_892006.3:p.Asn8779Lys
NM_001328100.2:c.851-2773G>T (ESR1)	NP_001315029.1:n.851-2773G>T
NM_001347701.2:c.*148C>A (SYNE1)	NP_001334630.1:n.*148C>A
NM_001347702.2:c.2871C>A (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Asn957Lys
NM_033071.5:c.26193C>A (SYNE1)	NP_149062.2:p.Asn8731Lys