Canonical Allele Identifier: CA150189518

Gene: SYNE1 ESR1

Linked Data

• ClinVar Variation Id: 1440876
• ClinVar RCV Id: RCV001936996
• dbSNP Id: rs983040762
• MyVariant Identifiers: chr6:g.152443680G>A (hg19) ; chr6:g.152122545G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122545G>A , CM000668.2:g.152122545G>A	GRCh38
NC_000006.11:g.152443680G>A , CM000668.1:g.152443680G>A	GRCh37
NC_000006.10:g.152485373G>A	NCBI36
NG_012855.1:g.519855C>T
NG_008493.2:g.470855G>A
NG_012855.2:g.519855C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2819C>T (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Ala940Val
ENST00000367255.10:c.26285C>T (SYNE1) MANE Select	ENSP00000356224.5:p.Ala8762Val
ENST00000423061.6:c.26141C>T (SYNE1)	ENSP00000396024.1:p.Ala8714Val
ENST00000672154.1:c.1628C>T (SYNE1)
ENST00000672169.1:c.2003C>T (SYNE1)
ENST00000673173.1:c.1870C>T (SYNE1)
ENST00000673451.1:c.2135C>T (SYNE1)	ENSP00000500189.1:n.2135C>T
ENST00000341594.9:c.25070C>T (SYNE1)	ENSP00000341887.6:p.Ala8357Val
ENST00000347037.9:n.3033C>T (SYNE1)
ENST00000354674.4:c.2819C>T (SYNE1)	ENSP00000346701.4:p.Ala940Val
ENST00000367251.7:c.5061C>T (SYNE1)	ENSP00000356220.3:n.5061C>T
ENST00000367255.9:c.26285C>T (SYNE1)	ENSP00000356224.5:p.Ala8762Val
ENST00000367256.9:n.9977C>T (SYNE1)
ENST00000367257.8:c.4164C>T (SYNE1)	ENSP00000356226.4:n.4164C>T
ENST00000409694.6:n.9869C>T (SYNE1)
ENST00000423061.5:c.26141C>T (SYNE1)	ENSP00000396024.1:p.Ala8714Val
ENST00000427531.6:c.851-2721G>A (ESR1)	ENSP00000394721.2:n.851-2721G>A
ENST00000460912.6:n.2899C>T (SYNE1)
ENST00000478916.5:n.6922C>T (SYNE1)
ENST00000539504.5:c.2750C>T (SYNE1)	ENSP00000441052.1:p.Ala917Val
NM_033071.3:c.26141C>T (SYNE1)	NP_149062.1:p.Ala8714Val
NM_182961.3:c.26285C>T (SYNE1)	NP_892006.3:p.Ala8762Val
XM_006715407.1:c.26432C>T (SYNE1)	XP_006715470.1:p.Ala8811Val
XM_006715408.1:c.26420C>T (SYNE1)	XP_006715471.1:p.Ala8807Val
XM_006715409.1:c.26411C>T (SYNE1)	XP_006715472.1:p.Ala8804Val
XM_006715410.1:c.26390C>T (SYNE1)	XP_006715473.1:p.Ala8797Val
XM_006715411.1:c.26381C>T (SYNE1)	XP_006715474.1:p.Ala8794Val
XM_006715412.1:c.26375C>T (SYNE1)	XP_006715475.1:p.Ala8792Val
XM_006715413.1:c.26363C>T (SYNE1)	XP_006715476.1:p.Ala8788Val
XM_006715414.1:c.26360C>T (SYNE1)	XP_006715477.1:p.Ala8787Val
XM_006715415.1:c.26321C>T (SYNE1)	XP_006715478.1:p.Ala8774Val
XM_006715416.1:c.26306C>T (SYNE1)	XP_006715479.1:p.Ala8769Val
XM_006715417.1:c.26291C>T (SYNE1)	XP_006715480.1:p.Ala8764Val
XM_006715420.1:c.26279C>T (SYNE1)	XP_006715483.1:p.Ala8760Val
XM_006715421.1:c.26276C>T (SYNE1)	XP_006715484.1:p.Ala8759Val
XM_006715422.1:c.26273C>T (SYNE1)	XP_006715485.1:p.Ala8758Val
XM_006715423.1:c.*96C>T (SYNE1)	XP_006715486.1:n.*96C>T
XM_006715424.1:c.*96C>T (SYNE1)	XP_006715487.1:n.*96C>T
XM_006715425.1:c.*96C>T (SYNE1)	XP_006715488.1:n.*96C>T
XM_011535641.1:c.26429C>T (SYNE1)	XP_011533943.1:p.Ala8810Val
XM_011535642.1:c.26417C>T (SYNE1)	XP_011533944.1:p.Ala8806Val
XM_011535643.1:c.26267C>T (SYNE1)	XP_011533945.1:p.Ala8756Val
XM_011535644.1:c.24707C>T (SYNE1)	XP_011533946.1:p.Ala8236Val
XM_011535645.1:c.24200C>T (SYNE1)	XP_011533947.1:p.Ala8067Val
XM_011535647.1:c.19667C>T (SYNE1)	XP_011533949.1:p.Ala6556Val
NM_001328100.1:c.851-2721G>A (ESR1)	NP_001315029.1:n.851-2721G>A
NM_001347701.1:c.*96C>T (SYNE1)	NP_001334630.1:n.*96C>T
NM_001347702.1:c.2819C>T (SYNE1)	NP_001334631.1:p.Ala940Val
XM_006715408.2:c.26420C>T (SYNE1)	XP_006715471.1:p.Ala8807Val
XM_006715410.2:c.26390C>T (SYNE1)	XP_006715473.1:p.Ala8797Val
XM_006715412.2:c.26375C>T (SYNE1)	XP_006715475.1:p.Ala8792Val
XM_006715413.2:c.26363C>T (SYNE1)	XP_006715476.1:p.Ala8788Val
XM_006715415.2:c.26321C>T (SYNE1)	XP_006715478.1:p.Ala8774Val
XM_006715416.2:c.26306C>T (SYNE1)	XP_006715479.1:p.Ala8769Val
XM_006715417.2:c.26291C>T (SYNE1)	XP_006715480.1:p.Ala8764Val
XM_006715420.2:c.26279C>T (SYNE1)	XP_006715483.1:p.Ala8760Val
XM_006715421.2:c.26276C>T (SYNE1)	XP_006715484.1:p.Ala8759Val
XM_006715423.2:c.*96C>T (SYNE1)	XP_006715486.1:n.*96C>T
XM_006715424.2:c.*96C>T (SYNE1)	XP_006715487.1:n.*96C>T
XM_006715425.2:c.*96C>T (SYNE1)	XP_006715488.1:n.*96C>T
XM_011535641.2:c.26429C>T (SYNE1)	XP_011533943.1:p.Ala8810Val
XM_011535642.2:c.26417C>T (SYNE1)	XP_011533944.1:p.Ala8806Val
XM_011535645.2:c.24200C>T (SYNE1)	XP_011533947.1:p.Ala8067Val
XM_017010608.1:c.26432C>T (SYNE1)	XP_016866097.1:p.Ala8811Val
XM_017010609.1:c.26432C>T (SYNE1)	XP_016866098.1:p.Ala8811Val
XM_017010610.1:c.26411C>T (SYNE1)	XP_016866099.1:p.Ala8804Val
XM_017010611.2:c.26405C>T (SYNE1)	XP_016866100.1:p.Ala8802Val
XM_017010612.1:c.26354C>T (SYNE1)	XP_016866101.1:p.Ala8785Val
XM_017010613.1:c.26318C>T (SYNE1)	XP_016866102.1:p.Ala8773Val
XM_017010614.1:c.26276C>T (SYNE1)	XP_016866103.1:p.Ala8759Val
XM_017010615.1:c.26165C>T (SYNE1)	XP_016866104.1:p.Ala8722Val
XM_017010616.1:c.*96C>T (SYNE1)	XP_016866105.1:n.*96C>T
XM_017010617.1:c.*96C>T (SYNE1)	XP_016866106.1:n.*96C>T
XM_017010618.1:c.*96C>T (SYNE1)	XP_016866107.1:n.*96C>T
XM_017010619.1:c.24707C>T (SYNE1)	XP_016866108.1:p.Ala8236Val
NM_182961.4:c.26285C>T (SYNE1) MANE Select	NP_892006.3:p.Ala8762Val
NM_001328100.2:c.851-2721G>A (ESR1)	NP_001315029.1:n.851-2721G>A
NM_001347701.2:c.*96C>T (SYNE1)	NP_001334630.1:n.*96C>T
NM_001347702.2:c.2819C>T (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Ala940Val
NM_033071.5:c.26141C>T (SYNE1)	NP_149062.2:p.Ala8714Val