Canonical Allele Identifier: CA366088937

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443708G>C (hg19) ; chr6:g.152122573G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122573G>C , CM000668.2:g.152122573G>C	GRCh38
NC_000006.11:g.152443708G>C , CM000668.1:g.152443708G>C	GRCh37
NC_000006.10:g.152485401G>C	NCBI36
NG_012855.1:g.519827C>G
NG_008493.2:g.470883G>C
NG_012855.2:g.519827C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2791C>G (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Leu931Val
ENST00000367255.10:c.26257C>G (SYNE1) MANE Select	ENSP00000356224.5:p.Leu8753Val
ENST00000423061.6:c.26113C>G (SYNE1)	ENSP00000396024.1:p.Leu8705Val
ENST00000672154.1:c.1600C>G (SYNE1)
ENST00000672169.1:c.1975C>G (SYNE1)
ENST00000673173.1:c.1842C>G (SYNE1)
ENST00000673451.1:c.2107C>G (SYNE1)	ENSP00000500189.1:n.2107C>G
ENST00000341594.9:c.25042C>G (SYNE1)	ENSP00000341887.6:p.Leu8348Val
ENST00000347037.9:n.3005C>G (SYNE1)
ENST00000354674.4:c.2791C>G (SYNE1)	ENSP00000346701.4:p.Leu931Val
ENST00000367251.7:c.5033C>G (SYNE1)	ENSP00000356220.3:n.5033C>G
ENST00000367255.9:c.26257C>G (SYNE1)	ENSP00000356224.5:p.Leu8753Val
ENST00000367256.9:n.9949C>G (SYNE1)
ENST00000367257.8:c.4136C>G (SYNE1)	ENSP00000356226.4:n.4136C>G
ENST00000409694.6:n.9841C>G (SYNE1)
ENST00000423061.5:c.26113C>G (SYNE1)	ENSP00000396024.1:p.Leu8705Val
ENST00000427531.6:c.851-2693G>C (ESR1)	ENSP00000394721.2:n.851-2693G>C
ENST00000460912.6:n.2871C>G (SYNE1)
ENST00000478916.5:n.6894C>G (SYNE1)
ENST00000539504.5:c.2722C>G (SYNE1)	ENSP00000441052.1:p.Leu908Val
NM_033071.3:c.26113C>G (SYNE1)	NP_149062.1:p.Leu8705Val
NM_182961.3:c.26257C>G (SYNE1)	NP_892006.3:p.Leu8753Val
XM_006715407.1:c.26404C>G (SYNE1)	XP_006715470.1:p.Leu8802Val
XM_006715408.1:c.26392C>G (SYNE1)	XP_006715471.1:p.Leu8798Val
XM_006715409.1:c.26383C>G (SYNE1)	XP_006715472.1:p.Leu8795Val
XM_006715410.1:c.26362C>G (SYNE1)	XP_006715473.1:p.Leu8788Val
XM_006715411.1:c.26353C>G (SYNE1)	XP_006715474.1:p.Leu8785Val
XM_006715412.1:c.26347C>G (SYNE1)	XP_006715475.1:p.Leu8783Val
XM_006715413.1:c.26335C>G (SYNE1)	XP_006715476.1:p.Leu8779Val
XM_006715414.1:c.26332C>G (SYNE1)	XP_006715477.1:p.Leu8778Val
XM_006715415.1:c.26293C>G (SYNE1)	XP_006715478.1:p.Leu8765Val
XM_006715416.1:c.26278C>G (SYNE1)	XP_006715479.1:p.Leu8760Val
XM_006715417.1:c.26263C>G (SYNE1)	XP_006715480.1:p.Leu8755Val
XM_006715420.1:c.26251C>G (SYNE1)	XP_006715483.1:p.Leu8751Val
XM_006715421.1:c.26248C>G (SYNE1)	XP_006715484.1:p.Leu8750Val
XM_006715422.1:c.26245C>G (SYNE1)	XP_006715485.1:p.Leu8749Val
XM_006715423.1:c.*68C>G (SYNE1)	XP_006715486.1:n.*68C>G
XM_006715424.1:c.*68C>G (SYNE1)	XP_006715487.1:n.*68C>G
XM_006715425.1:c.*68C>G (SYNE1)	XP_006715488.1:n.*68C>G
XM_011535641.1:c.26401C>G (SYNE1)	XP_011533943.1:p.Leu8801Val
XM_011535642.1:c.26389C>G (SYNE1)	XP_011533944.1:p.Leu8797Val
XM_011535643.1:c.26239C>G (SYNE1)	XP_011533945.1:p.Leu8747Val
XM_011535644.1:c.24679C>G (SYNE1)	XP_011533946.1:p.Leu8227Val
XM_011535645.1:c.24172C>G (SYNE1)	XP_011533947.1:p.Leu8058Val
XM_011535647.1:c.19639C>G (SYNE1)	XP_011533949.1:p.Leu6547Val
NM_001328100.1:c.851-2693G>C (ESR1)	NP_001315029.1:n.851-2693G>C
NM_001347701.1:c.*68C>G (SYNE1)	NP_001334630.1:n.*68C>G
NM_001347702.1:c.2791C>G (SYNE1)	NP_001334631.1:p.Leu931Val
XM_006715408.2:c.26392C>G (SYNE1)	XP_006715471.1:p.Leu8798Val
XM_006715410.2:c.26362C>G (SYNE1)	XP_006715473.1:p.Leu8788Val
XM_006715412.2:c.26347C>G (SYNE1)	XP_006715475.1:p.Leu8783Val
XM_006715413.2:c.26335C>G (SYNE1)	XP_006715476.1:p.Leu8779Val
XM_006715415.2:c.26293C>G (SYNE1)	XP_006715478.1:p.Leu8765Val
XM_006715416.2:c.26278C>G (SYNE1)	XP_006715479.1:p.Leu8760Val
XM_006715417.2:c.26263C>G (SYNE1)	XP_006715480.1:p.Leu8755Val
XM_006715420.2:c.26251C>G (SYNE1)	XP_006715483.1:p.Leu8751Val
XM_006715421.2:c.26248C>G (SYNE1)	XP_006715484.1:p.Leu8750Val
XM_006715423.2:c.*68C>G (SYNE1)	XP_006715486.1:n.*68C>G
XM_006715424.2:c.*68C>G (SYNE1)	XP_006715487.1:n.*68C>G
XM_006715425.2:c.*68C>G (SYNE1)	XP_006715488.1:n.*68C>G
XM_011535641.2:c.26401C>G (SYNE1)	XP_011533943.1:p.Leu8801Val
XM_011535642.2:c.26389C>G (SYNE1)	XP_011533944.1:p.Leu8797Val
XM_011535645.2:c.24172C>G (SYNE1)	XP_011533947.1:p.Leu8058Val
XM_017010608.1:c.26404C>G (SYNE1)	XP_016866097.1:p.Leu8802Val
XM_017010609.1:c.26404C>G (SYNE1)	XP_016866098.1:p.Leu8802Val
XM_017010610.1:c.26383C>G (SYNE1)	XP_016866099.1:p.Leu8795Val
XM_017010611.2:c.26377C>G (SYNE1)	XP_016866100.1:p.Leu8793Val
XM_017010612.1:c.26326C>G (SYNE1)	XP_016866101.1:p.Leu8776Val
XM_017010613.1:c.26290C>G (SYNE1)	XP_016866102.1:p.Leu8764Val
XM_017010614.1:c.26248C>G (SYNE1)	XP_016866103.1:p.Leu8750Val
XM_017010615.1:c.26137C>G (SYNE1)	XP_016866104.1:p.Leu8713Val
XM_017010616.1:c.*68C>G (SYNE1)	XP_016866105.1:n.*68C>G
XM_017010617.1:c.*68C>G (SYNE1)	XP_016866106.1:n.*68C>G
XM_017010618.1:c.*68C>G (SYNE1)	XP_016866107.1:n.*68C>G
XM_017010619.1:c.24679C>G (SYNE1)	XP_016866108.1:p.Leu8227Val
NM_182961.4:c.26257C>G (SYNE1) MANE Select	NP_892006.3:p.Leu8753Val
NM_001328100.2:c.851-2693G>C (ESR1)	NP_001315029.1:n.851-2693G>C
NM_001347701.2:c.*68C>G (SYNE1)	NP_001334630.1:n.*68C>G
NM_001347702.2:c.2791C>G (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Leu931Val
NM_033071.5:c.26113C>G (SYNE1)	NP_149062.2:p.Leu8705Val