Canonical Allele Identifier: CA452969591

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443640G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122505G>A , CM000668.2:g.152122505G>A	GRCh38
NC_000006.11:g.152443640G>A , CM000668.1:g.152443640G>A	GRCh37
NC_000006.10:g.152485333G>A	NCBI36
NG_012855.1:g.519895C>T
NG_008493.2:g.470815G>A
NG_012855.2:g.519895C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2859C>T (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Ala953=
ENST00000367255.10:c.26325C>T (SYNE1) MANE Select	ENSP00000356224.5:p.Ala8775=
ENST00000423061.6:c.26181C>T (SYNE1)	ENSP00000396024.1:p.Ala8727=
ENST00000672154.1:c.1668C>T (SYNE1)
ENST00000672169.1:c.2043C>T (SYNE1)
ENST00000673173.1:c.1910C>T (SYNE1)
ENST00000673451.1:c.2175C>T (SYNE1)	ENSP00000500189.1:n.2175C>T
ENST00000341594.9:c.25110C>T (SYNE1)	ENSP00000341887.6:p.Ala8370=
ENST00000347037.9:n.3073C>T (SYNE1)
ENST00000354674.4:c.2859C>T (SYNE1)	ENSP00000346701.4:p.Ala953=
ENST00000367251.7:c.5101C>T (SYNE1)	ENSP00000356220.3:n.5101C>T
ENST00000367255.9:c.26325C>T (SYNE1)	ENSP00000356224.5:p.Ala8775=
ENST00000367256.9:n.10017C>T (SYNE1)
ENST00000367257.8:c.4204C>T (SYNE1)	ENSP00000356226.4:n.4204C>T
ENST00000409694.6:n.9909C>T (SYNE1)
ENST00000423061.5:c.26181C>T (SYNE1)	ENSP00000396024.1:p.Ala8727=
ENST00000427531.6:c.851-2761G>A (ESR1)	ENSP00000394721.2:n.851-2761G>A
ENST00000460912.6:n.2939C>T (SYNE1)
ENST00000478916.5:n.6962C>T (SYNE1)
ENST00000539504.5:c.2790C>T (SYNE1)	ENSP00000441052.1:p.Ala930=
NM_033071.3:c.26181C>T (SYNE1)	NP_149062.1:p.Ala8727=
NM_182961.3:c.26325C>T (SYNE1)	NP_892006.3:p.Ala8775=
XM_006715407.1:c.26472C>T (SYNE1)	XP_006715470.1:p.Ala8824=
XM_006715408.1:c.26460C>T (SYNE1)	XP_006715471.1:p.Ala8820=
XM_006715409.1:c.26451C>T (SYNE1)	XP_006715472.1:p.Ala8817=
XM_006715410.1:c.26430C>T (SYNE1)	XP_006715473.1:p.Ala8810=
XM_006715411.1:c.26421C>T (SYNE1)	XP_006715474.1:p.Ala8807=
XM_006715412.1:c.26415C>T (SYNE1)	XP_006715475.1:p.Ala8805=
XM_006715413.1:c.26403C>T (SYNE1)	XP_006715476.1:p.Ala8801=
XM_006715414.1:c.26400C>T (SYNE1)	XP_006715477.1:p.Ala8800=
XM_006715415.1:c.26361C>T (SYNE1)	XP_006715478.1:p.Ala8787=
XM_006715416.1:c.26346C>T (SYNE1)	XP_006715479.1:p.Ala8782=
XM_006715417.1:c.26331C>T (SYNE1)	XP_006715480.1:p.Ala8777=
XM_006715420.1:c.26319C>T (SYNE1)	XP_006715483.1:p.Ala8773=
XM_006715421.1:c.26316C>T (SYNE1)	XP_006715484.1:p.Ala8772=
XM_006715422.1:c.26313C>T (SYNE1)	XP_006715485.1:p.Ala8771=
XM_006715423.1:c.*136C>T (SYNE1)	XP_006715486.1:n.*136C>T
XM_006715424.1:c.*136C>T (SYNE1)	XP_006715487.1:n.*136C>T
XM_006715425.1:c.*136C>T (SYNE1)	XP_006715488.1:n.*136C>T
XM_011535641.1:c.26469C>T (SYNE1)	XP_011533943.1:p.Ala8823=
XM_011535642.1:c.26457C>T (SYNE1)	XP_011533944.1:p.Ala8819=
XM_011535643.1:c.26307C>T (SYNE1)	XP_011533945.1:p.Ala8769=
XM_011535644.1:c.24747C>T (SYNE1)	XP_011533946.1:p.Ala8249=
XM_011535645.1:c.24240C>T (SYNE1)	XP_011533947.1:p.Ala8080=
XM_011535647.1:c.19707C>T (SYNE1)	XP_011533949.1:p.Ala6569=
NM_001328100.1:c.851-2761G>A (ESR1)	NP_001315029.1:n.851-2761G>A
NM_001347701.1:c.*136C>T (SYNE1)	NP_001334630.1:n.*136C>T
NM_001347702.1:c.2859C>T (SYNE1)	NP_001334631.1:p.Ala953=
XM_006715408.2:c.26460C>T (SYNE1)	XP_006715471.1:p.Ala8820=
XM_006715410.2:c.26430C>T (SYNE1)	XP_006715473.1:p.Ala8810=
XM_006715412.2:c.26415C>T (SYNE1)	XP_006715475.1:p.Ala8805=
XM_006715413.2:c.26403C>T (SYNE1)	XP_006715476.1:p.Ala8801=
XM_006715415.2:c.26361C>T (SYNE1)	XP_006715478.1:p.Ala8787=
XM_006715416.2:c.26346C>T (SYNE1)	XP_006715479.1:p.Ala8782=
XM_006715417.2:c.26331C>T (SYNE1)	XP_006715480.1:p.Ala8777=
XM_006715420.2:c.26319C>T (SYNE1)	XP_006715483.1:p.Ala8773=
XM_006715421.2:c.26316C>T (SYNE1)	XP_006715484.1:p.Ala8772=
XM_006715423.2:c.*136C>T (SYNE1)	XP_006715486.1:n.*136C>T
XM_006715424.2:c.*136C>T (SYNE1)	XP_006715487.1:n.*136C>T
XM_006715425.2:c.*136C>T (SYNE1)	XP_006715488.1:n.*136C>T
XM_011535641.2:c.26469C>T (SYNE1)	XP_011533943.1:p.Ala8823=
XM_011535642.2:c.26457C>T (SYNE1)	XP_011533944.1:p.Ala8819=
XM_011535645.2:c.24240C>T (SYNE1)	XP_011533947.1:p.Ala8080=
XM_017010608.1:c.26472C>T (SYNE1)	XP_016866097.1:p.Ala8824=
XM_017010609.1:c.26472C>T (SYNE1)	XP_016866098.1:p.Ala8824=
XM_017010610.1:c.26451C>T (SYNE1)	XP_016866099.1:p.Ala8817=
XM_017010611.2:c.26445C>T (SYNE1)	XP_016866100.1:p.Ala8815=
XM_017010612.1:c.26394C>T (SYNE1)	XP_016866101.1:p.Ala8798=
XM_017010613.1:c.26358C>T (SYNE1)	XP_016866102.1:p.Ala8786=
XM_017010614.1:c.26316C>T (SYNE1)	XP_016866103.1:p.Ala8772=
XM_017010615.1:c.26205C>T (SYNE1)	XP_016866104.1:p.Ala8735=
XM_017010616.1:c.*136C>T (SYNE1)	XP_016866105.1:n.*136C>T
XM_017010617.1:c.*136C>T (SYNE1)	XP_016866106.1:n.*136C>T
XM_017010618.1:c.*136C>T (SYNE1)	XP_016866107.1:n.*136C>T
XM_017010619.1:c.24747C>T (SYNE1)	XP_016866108.1:p.Ala8249=
NM_182961.4:c.26325C>T (SYNE1) MANE Select	NP_892006.3:p.Ala8775=
NM_001328100.2:c.851-2761G>A (ESR1)	NP_001315029.1:n.851-2761G>A
NM_001347701.2:c.*136C>T (SYNE1)	NP_001334630.1:n.*136C>T
NM_001347702.2:c.2859C>T (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Ala953=
NM_033071.5:c.26181C>T (SYNE1)	NP_149062.2:p.Ala8727=