Canonical Allele Identifier: CA4052586

Gene: SYNE1 ESR1

Linked Data

• ClinVar Variation Id: 448595
• ClinVar RCV Id: RCV000727476 ; RCV000545766 ; RCV001257021
• dbSNP Id: rs377446250
• ExAC: 6:152443635 G / C
• gnomAD v2: 6-152443635-G-C
• gnomAD v3: 6-152122500-G-C
• gnomAD v4: 6-152122500-G-C
• MyVariant Identifiers: chr6:g.152443635G>C (hg19) ; chr6:g.152122500G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122500G>C , CM000668.2:g.152122500G>C	GRCh38
NC_000006.11:g.152443635G>C , CM000668.1:g.152443635G>C	GRCh37
NC_000006.10:g.152485328G>C	NCBI36
NG_012855.1:g.519900C>G
NG_008493.2:g.470810G>C
NG_012855.2:g.519900C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2864C>G (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Ser955Cys
ENST00000367255.10:c.26330C>G (SYNE1) MANE Select	ENSP00000356224.5:p.Ser8777Cys
ENST00000423061.6:c.26186C>G (SYNE1)	ENSP00000396024.1:p.Ser8729Cys
ENST00000672154.1:c.1673C>G (SYNE1)
ENST00000672169.1:c.2048C>G (SYNE1)
ENST00000673173.1:c.1915C>G (SYNE1)
ENST00000673451.1:c.2180C>G (SYNE1)	ENSP00000500189.1:n.2180C>G
ENST00000341594.9:c.25115C>G (SYNE1)	ENSP00000341887.6:p.Ser8372Cys
ENST00000347037.9:n.3078C>G (SYNE1)
ENST00000354674.4:c.2864C>G (SYNE1)	ENSP00000346701.4:p.Ser955Cys
ENST00000367251.7:c.5106C>G (SYNE1)	ENSP00000356220.3:n.5106C>G
ENST00000367255.9:c.26330C>G (SYNE1)	ENSP00000356224.5:p.Ser8777Cys
ENST00000367256.9:n.10022C>G (SYNE1)
ENST00000367257.8:c.4209C>G (SYNE1)	ENSP00000356226.4:n.4209C>G
ENST00000409694.6:n.9914C>G (SYNE1)
ENST00000423061.5:c.26186C>G (SYNE1)	ENSP00000396024.1:p.Ser8729Cys
ENST00000427531.6:c.851-2766G>C (ESR1)	ENSP00000394721.2:n.851-2766G>C
ENST00000460912.6:n.2944C>G (SYNE1)
ENST00000478916.5:n.6967C>G (SYNE1)
ENST00000539504.5:c.2795C>G (SYNE1)	ENSP00000441052.1:p.Ser932Cys
NM_033071.3:c.26186C>G (SYNE1)	NP_149062.1:p.Ser8729Cys
NM_182961.3:c.26330C>G (SYNE1)	NP_892006.3:p.Ser8777Cys
XM_006715407.1:c.26477C>G (SYNE1)	XP_006715470.1:p.Ser8826Cys
XM_006715408.1:c.26465C>G (SYNE1)	XP_006715471.1:p.Ser8822Cys
XM_006715409.1:c.26456C>G (SYNE1)	XP_006715472.1:p.Ser8819Cys
XM_006715410.1:c.26435C>G (SYNE1)	XP_006715473.1:p.Ser8812Cys
XM_006715411.1:c.26426C>G (SYNE1)	XP_006715474.1:p.Ser8809Cys
XM_006715412.1:c.26420C>G (SYNE1)	XP_006715475.1:p.Ser8807Cys
XM_006715413.1:c.26408C>G (SYNE1)	XP_006715476.1:p.Ser8803Cys
XM_006715414.1:c.26405C>G (SYNE1)	XP_006715477.1:p.Ser8802Cys
XM_006715415.1:c.26366C>G (SYNE1)	XP_006715478.1:p.Ser8789Cys
XM_006715416.1:c.26351C>G (SYNE1)	XP_006715479.1:p.Ser8784Cys
XM_006715417.1:c.26336C>G (SYNE1)	XP_006715480.1:p.Ser8779Cys
XM_006715420.1:c.26324C>G (SYNE1)	XP_006715483.1:p.Ser8775Cys
XM_006715421.1:c.26321C>G (SYNE1)	XP_006715484.1:p.Ser8774Cys
XM_006715422.1:c.26318C>G (SYNE1)	XP_006715485.1:p.Ser8773Cys
XM_006715423.1:c.*141C>G (SYNE1)	XP_006715486.1:n.*141C>G
XM_006715424.1:c.*141C>G (SYNE1)	XP_006715487.1:n.*141C>G
XM_006715425.1:c.*141C>G (SYNE1)	XP_006715488.1:n.*141C>G
XM_011535641.1:c.26474C>G (SYNE1)	XP_011533943.1:p.Ser8825Cys
XM_011535642.1:c.26462C>G (SYNE1)	XP_011533944.1:p.Ser8821Cys
XM_011535643.1:c.26312C>G (SYNE1)	XP_011533945.1:p.Ser8771Cys
XM_011535644.1:c.24752C>G (SYNE1)	XP_011533946.1:p.Ser8251Cys
XM_011535645.1:c.24245C>G (SYNE1)	XP_011533947.1:p.Ser8082Cys
XM_011535647.1:c.19712C>G (SYNE1)	XP_011533949.1:p.Ser6571Cys
NM_001328100.1:c.851-2766G>C (ESR1)	NP_001315029.1:n.851-2766G>C
NM_001347701.1:c.*141C>G (SYNE1)	NP_001334630.1:n.*141C>G
NM_001347702.1:c.2864C>G (SYNE1)	NP_001334631.1:p.Ser955Cys
XM_006715408.2:c.26465C>G (SYNE1)	XP_006715471.1:p.Ser8822Cys
XM_006715410.2:c.26435C>G (SYNE1)	XP_006715473.1:p.Ser8812Cys
XM_006715412.2:c.26420C>G (SYNE1)	XP_006715475.1:p.Ser8807Cys
XM_006715413.2:c.26408C>G (SYNE1)	XP_006715476.1:p.Ser8803Cys
XM_006715415.2:c.26366C>G (SYNE1)	XP_006715478.1:p.Ser8789Cys
XM_006715416.2:c.26351C>G (SYNE1)	XP_006715479.1:p.Ser8784Cys
XM_006715417.2:c.26336C>G (SYNE1)	XP_006715480.1:p.Ser8779Cys
XM_006715420.2:c.26324C>G (SYNE1)	XP_006715483.1:p.Ser8775Cys
XM_006715421.2:c.26321C>G (SYNE1)	XP_006715484.1:p.Ser8774Cys
XM_006715423.2:c.*141C>G (SYNE1)	XP_006715486.1:n.*141C>G
XM_006715424.2:c.*141C>G (SYNE1)	XP_006715487.1:n.*141C>G
XM_006715425.2:c.*141C>G (SYNE1)	XP_006715488.1:n.*141C>G
XM_011535641.2:c.26474C>G (SYNE1)	XP_011533943.1:p.Ser8825Cys
XM_011535642.2:c.26462C>G (SYNE1)	XP_011533944.1:p.Ser8821Cys
XM_011535645.2:c.24245C>G (SYNE1)	XP_011533947.1:p.Ser8082Cys
XM_017010608.1:c.26477C>G (SYNE1)	XP_016866097.1:p.Ser8826Cys
XM_017010609.1:c.26477C>G (SYNE1)	XP_016866098.1:p.Ser8826Cys
XM_017010610.1:c.26456C>G (SYNE1)	XP_016866099.1:p.Ser8819Cys
XM_017010611.2:c.26450C>G (SYNE1)	XP_016866100.1:p.Ser8817Cys
XM_017010612.1:c.26399C>G (SYNE1)	XP_016866101.1:p.Ser8800Cys
XM_017010613.1:c.26363C>G (SYNE1)	XP_016866102.1:p.Ser8788Cys
XM_017010614.1:c.26321C>G (SYNE1)	XP_016866103.1:p.Ser8774Cys
XM_017010615.1:c.26210C>G (SYNE1)	XP_016866104.1:p.Ser8737Cys
XM_017010616.1:c.*141C>G (SYNE1)	XP_016866105.1:n.*141C>G
XM_017010617.1:c.*141C>G (SYNE1)	XP_016866106.1:n.*141C>G
XM_017010618.1:c.*141C>G (SYNE1)	XP_016866107.1:n.*141C>G
XM_017010619.1:c.24752C>G (SYNE1)	XP_016866108.1:p.Ser8251Cys
NM_182961.4:c.26330C>G (SYNE1) MANE Select	NP_892006.3:p.Ser8777Cys
NM_001328100.2:c.851-2766G>C (ESR1)	NP_001315029.1:n.851-2766G>C
NM_001347701.2:c.*141C>G (SYNE1)	NP_001334630.1:n.*141C>G
NM_001347702.2:c.2864C>G (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Ser955Cys
NM_033071.5:c.26186C>G (SYNE1)	NP_149062.2:p.Ser8729Cys