Canonical Allele Identifier: CA452969578

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443718A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122583A>G , CM000668.2:g.152122583A>G	GRCh38
NC_000006.11:g.152443718A>G , CM000668.1:g.152443718A>G	GRCh37
NC_000006.10:g.152485411A>G	NCBI36
NG_012855.1:g.519817T>C
NG_008493.2:g.470893A>G
NG_012855.2:g.519817T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2781T>C (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Leu927=
ENST00000367255.10:c.26247T>C (SYNE1) MANE Select	ENSP00000356224.5:p.Leu8749=
ENST00000423061.6:c.26103T>C (SYNE1)	ENSP00000396024.1:p.Leu8701=
ENST00000672154.1:c.1590T>C (SYNE1)
ENST00000672169.1:c.1965T>C (SYNE1)
ENST00000673173.1:c.1832T>C (SYNE1)
ENST00000673451.1:c.2097T>C (SYNE1)	ENSP00000500189.1:n.2097T>C
ENST00000341594.9:c.25032T>C (SYNE1)	ENSP00000341887.6:p.Leu8344=
ENST00000347037.9:n.2995T>C (SYNE1)
ENST00000354674.4:c.2781T>C (SYNE1)	ENSP00000346701.4:p.Leu927=
ENST00000367251.7:c.5023T>C (SYNE1)	ENSP00000356220.3:n.5023T>C
ENST00000367255.9:c.26247T>C (SYNE1)	ENSP00000356224.5:p.Leu8749=
ENST00000367256.9:n.9939T>C (SYNE1)
ENST00000367257.8:c.4126T>C (SYNE1)	ENSP00000356226.4:n.4126T>C
ENST00000409694.6:n.9831T>C (SYNE1)
ENST00000423061.5:c.26103T>C (SYNE1)	ENSP00000396024.1:p.Leu8701=
ENST00000427531.6:c.851-2683A>G (ESR1)	ENSP00000394721.2:n.851-2683A>G
ENST00000460912.6:n.2861T>C (SYNE1)
ENST00000478916.5:n.6884T>C (SYNE1)
ENST00000539504.5:c.2712T>C (SYNE1)	ENSP00000441052.1:p.Leu904=
NM_033071.3:c.26103T>C (SYNE1)	NP_149062.1:p.Leu8701=
NM_182961.3:c.26247T>C (SYNE1)	NP_892006.3:p.Leu8749=
XM_006715407.1:c.26394T>C (SYNE1)	XP_006715470.1:p.Leu8798=
XM_006715408.1:c.26382T>C (SYNE1)	XP_006715471.1:p.Leu8794=
XM_006715409.1:c.26373T>C (SYNE1)	XP_006715472.1:p.Leu8791=
XM_006715410.1:c.26352T>C (SYNE1)	XP_006715473.1:p.Leu8784=
XM_006715411.1:c.26343T>C (SYNE1)	XP_006715474.1:p.Leu8781=
XM_006715412.1:c.26337T>C (SYNE1)	XP_006715475.1:p.Leu8779=
XM_006715413.1:c.26325T>C (SYNE1)	XP_006715476.1:p.Leu8775=
XM_006715414.1:c.26322T>C (SYNE1)	XP_006715477.1:p.Leu8774=
XM_006715415.1:c.26283T>C (SYNE1)	XP_006715478.1:p.Leu8761=
XM_006715416.1:c.26268T>C (SYNE1)	XP_006715479.1:p.Leu8756=
XM_006715417.1:c.26253T>C (SYNE1)	XP_006715480.1:p.Leu8751=
XM_006715420.1:c.26241T>C (SYNE1)	XP_006715483.1:p.Leu8747=
XM_006715421.1:c.26238T>C (SYNE1)	XP_006715484.1:p.Leu8746=
XM_006715422.1:c.26235T>C (SYNE1)	XP_006715485.1:p.Leu8745=
XM_006715423.1:c.*58T>C (SYNE1)	XP_006715486.1:n.*58T>C
XM_006715424.1:c.*58T>C (SYNE1)	XP_006715487.1:n.*58T>C
XM_006715425.1:c.*58T>C (SYNE1)	XP_006715488.1:n.*58T>C
XM_011535641.1:c.26391T>C (SYNE1)	XP_011533943.1:p.Leu8797=
XM_011535642.1:c.26379T>C (SYNE1)	XP_011533944.1:p.Leu8793=
XM_011535643.1:c.26229T>C (SYNE1)	XP_011533945.1:p.Leu8743=
XM_011535644.1:c.24669T>C (SYNE1)	XP_011533946.1:p.Leu8223=
XM_011535645.1:c.24162T>C (SYNE1)	XP_011533947.1:p.Leu8054=
XM_011535647.1:c.19629T>C (SYNE1)	XP_011533949.1:p.Leu6543=
NM_001328100.1:c.851-2683A>G (ESR1)	NP_001315029.1:n.851-2683A>G
NM_001347701.1:c.*58T>C (SYNE1)	NP_001334630.1:n.*58T>C
NM_001347702.1:c.2781T>C (SYNE1)	NP_001334631.1:p.Leu927=
XM_006715408.2:c.26382T>C (SYNE1)	XP_006715471.1:p.Leu8794=
XM_006715410.2:c.26352T>C (SYNE1)	XP_006715473.1:p.Leu8784=
XM_006715412.2:c.26337T>C (SYNE1)	XP_006715475.1:p.Leu8779=
XM_006715413.2:c.26325T>C (SYNE1)	XP_006715476.1:p.Leu8775=
XM_006715415.2:c.26283T>C (SYNE1)	XP_006715478.1:p.Leu8761=
XM_006715416.2:c.26268T>C (SYNE1)	XP_006715479.1:p.Leu8756=
XM_006715417.2:c.26253T>C (SYNE1)	XP_006715480.1:p.Leu8751=
XM_006715420.2:c.26241T>C (SYNE1)	XP_006715483.1:p.Leu8747=
XM_006715421.2:c.26238T>C (SYNE1)	XP_006715484.1:p.Leu8746=
XM_006715423.2:c.*58T>C (SYNE1)	XP_006715486.1:n.*58T>C
XM_006715424.2:c.*58T>C (SYNE1)	XP_006715487.1:n.*58T>C
XM_006715425.2:c.*58T>C (SYNE1)	XP_006715488.1:n.*58T>C
XM_011535641.2:c.26391T>C (SYNE1)	XP_011533943.1:p.Leu8797=
XM_011535642.2:c.26379T>C (SYNE1)	XP_011533944.1:p.Leu8793=
XM_011535645.2:c.24162T>C (SYNE1)	XP_011533947.1:p.Leu8054=
XM_017010608.1:c.26394T>C (SYNE1)	XP_016866097.1:p.Leu8798=
XM_017010609.1:c.26394T>C (SYNE1)	XP_016866098.1:p.Leu8798=
XM_017010610.1:c.26373T>C (SYNE1)	XP_016866099.1:p.Leu8791=
XM_017010611.2:c.26367T>C (SYNE1)	XP_016866100.1:p.Leu8789=
XM_017010612.1:c.26316T>C (SYNE1)	XP_016866101.1:p.Leu8772=
XM_017010613.1:c.26280T>C (SYNE1)	XP_016866102.1:p.Leu8760=
XM_017010614.1:c.26238T>C (SYNE1)	XP_016866103.1:p.Leu8746=
XM_017010615.1:c.26127T>C (SYNE1)	XP_016866104.1:p.Leu8709=
XM_017010616.1:c.*58T>C (SYNE1)	XP_016866105.1:n.*58T>C
XM_017010617.1:c.*58T>C (SYNE1)	XP_016866106.1:n.*58T>C
XM_017010618.1:c.*58T>C (SYNE1)	XP_016866107.1:n.*58T>C
XM_017010619.1:c.24669T>C (SYNE1)	XP_016866108.1:p.Leu8223=
NM_182961.4:c.26247T>C (SYNE1) MANE Select	NP_892006.3:p.Leu8749=
NM_001328100.2:c.851-2683A>G (ESR1)	NP_001315029.1:n.851-2683A>G
NM_001347701.2:c.*58T>C (SYNE1)	NP_001334630.1:n.*58T>C
NM_001347702.2:c.2781T>C (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Leu927=
NM_033071.5:c.26103T>C (SYNE1)	NP_149062.2:p.Leu8701=