Canonical Allele Identifier: CA366089222

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443787G>C (hg19) ; chr6:g.152122652G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122652G>C , CM000668.2:g.152122652G>C	GRCh38
NC_000006.11:g.152443787G>C , CM000668.1:g.152443787G>C	GRCh37
NC_000006.10:g.152485480G>C	NCBI36
NG_012855.1:g.519748C>G
NG_008493.2:g.470962G>C
NG_012855.2:g.519748C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2712C>G (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Ser904=
ENST00000367255.10:c.26178C>G (SYNE1) MANE Select	ENSP00000356224.5:p.Ser8726=
ENST00000423061.6:c.26034C>G (SYNE1)	ENSP00000396024.1:p.Ser8678=
ENST00000672154.1:c.1521C>G (SYNE1)
ENST00000672169.1:c.1896C>G (SYNE1)
ENST00000673173.1:c.1763C>G (SYNE1)
ENST00000673451.1:c.2028C>G (SYNE1)	ENSP00000500189.1:n.2028C>G
ENST00000341594.9:c.24963C>G (SYNE1)	ENSP00000341887.6:p.Ser8321=
ENST00000347037.9:n.2926C>G (SYNE1)
ENST00000354674.4:c.2712C>G (SYNE1)	ENSP00000346701.4:p.Ser904=
ENST00000367251.7:c.4954C>G (SYNE1)	ENSP00000356220.3:p.Leu1652Val
ENST00000367255.9:c.26178C>G (SYNE1)	ENSP00000356224.5:p.Ser8726=
ENST00000367256.9:n.9870C>G (SYNE1)
ENST00000367257.8:c.4057C>G (SYNE1)	ENSP00000356226.4:p.Leu1353Val
ENST00000409694.6:n.9762C>G (SYNE1)
ENST00000423061.5:c.26034C>G (SYNE1)	ENSP00000396024.1:p.Ser8678=
ENST00000427531.6:c.851-2614G>C (ESR1)	ENSP00000394721.2:n.851-2614G>C
ENST00000460912.6:n.2792C>G (SYNE1)
ENST00000478916.5:n.6815C>G (SYNE1)
ENST00000536990.5:n.2956C>G (SYNE1)
ENST00000539504.5:c.2643C>G (SYNE1)	ENSP00000441052.1:p.Ser881=
NM_033071.3:c.26034C>G (SYNE1)	NP_149062.1:p.Ser8678=
NM_182961.3:c.26178C>G (SYNE1)	NP_892006.3:p.Ser8726=
XM_006715407.1:c.26325C>G (SYNE1)	XP_006715470.1:p.Ser8775=
XM_006715408.1:c.26313C>G (SYNE1)	XP_006715471.1:p.Ser8771=
XM_006715409.1:c.26304C>G (SYNE1)	XP_006715472.1:p.Ser8768=
XM_006715410.1:c.26283C>G (SYNE1)	XP_006715473.1:p.Ser8761=
XM_006715411.1:c.26274C>G (SYNE1)	XP_006715474.1:p.Ser8758=
XM_006715412.1:c.26268C>G (SYNE1)	XP_006715475.1:p.Ser8756=
XM_006715413.1:c.26256C>G (SYNE1)	XP_006715476.1:p.Ser8752=
XM_006715414.1:c.26253C>G (SYNE1)	XP_006715477.1:p.Ser8751=
XM_006715415.1:c.26214C>G (SYNE1)	XP_006715478.1:p.Ser8738=
XM_006715416.1:c.26199C>G (SYNE1)	XP_006715479.1:p.Ser8733=
XM_006715417.1:c.26184C>G (SYNE1)	XP_006715480.1:p.Ser8728=
XM_006715420.1:c.26172C>G (SYNE1)	XP_006715483.1:p.Ser8724=
XM_006715421.1:c.26169C>G (SYNE1)	XP_006715484.1:p.Ser8723=
XM_006715422.1:c.26166C>G (SYNE1)	XP_006715485.1:p.Ser8722=
XM_006715423.1:c.26266C>G (SYNE1)	XP_006715486.1:p.Leu8756Val
XM_006715424.1:c.26224C>G (SYNE1)	XP_006715487.1:p.Leu8742Val
XM_006715425.1:c.26155C>G (SYNE1)	XP_006715488.1:p.Leu8719Val
XM_011535641.1:c.26322C>G (SYNE1)	XP_011533943.1:p.Ser8774=
XM_011535642.1:c.26310C>G (SYNE1)	XP_011533944.1:p.Ser8770=
XM_011535643.1:c.26160C>G (SYNE1)	XP_011533945.1:p.Ser8720=
XM_011535644.1:c.24600C>G (SYNE1)	XP_011533946.1:p.Ser8200=
XM_011535645.1:c.24093C>G (SYNE1)	XP_011533947.1:p.Ser8031=
XM_011535647.1:c.19560C>G (SYNE1)	XP_011533949.1:p.Ser6520=
NM_001328100.1:c.851-2614G>C (ESR1)	NP_001315029.1:n.851-2614G>C
NM_001347701.1:c.2725C>G (SYNE1)	NP_001334630.1:p.Leu909Val
NM_001347702.1:c.2712C>G (SYNE1)	NP_001334631.1:p.Ser904=
XM_006715408.2:c.26313C>G (SYNE1)	XP_006715471.1:p.Ser8771=
XM_006715410.2:c.26283C>G (SYNE1)	XP_006715473.1:p.Ser8761=
XM_006715412.2:c.26268C>G (SYNE1)	XP_006715475.1:p.Ser8756=
XM_006715413.2:c.26256C>G (SYNE1)	XP_006715476.1:p.Ser8752=
XM_006715415.2:c.26214C>G (SYNE1)	XP_006715478.1:p.Ser8738=
XM_006715416.2:c.26199C>G (SYNE1)	XP_006715479.1:p.Ser8733=
XM_006715417.2:c.26184C>G (SYNE1)	XP_006715480.1:p.Ser8728=
XM_006715420.2:c.26172C>G (SYNE1)	XP_006715483.1:p.Ser8724=
XM_006715421.2:c.26169C>G (SYNE1)	XP_006715484.1:p.Ser8723=
XM_006715423.2:c.26266C>G (SYNE1)	XP_006715486.1:p.Leu8756Val
XM_006715424.2:c.26224C>G (SYNE1)	XP_006715487.1:p.Leu8742Val
XM_006715425.2:c.26155C>G (SYNE1)	XP_006715488.1:p.Leu8719Val
XM_011535641.2:c.26322C>G (SYNE1)	XP_011533943.1:p.Ser8774=
XM_011535642.2:c.26310C>G (SYNE1)	XP_011533944.1:p.Ser8770=
XM_011535645.2:c.24093C>G (SYNE1)	XP_011533947.1:p.Ser8031=
XM_017010608.1:c.26325C>G (SYNE1)	XP_016866097.1:p.Ser8775=
XM_017010609.1:c.26325C>G (SYNE1)	XP_016866098.1:p.Ser8775=
XM_017010610.1:c.26304C>G (SYNE1)	XP_016866099.1:p.Ser8768=
XM_017010611.2:c.26298C>G (SYNE1)	XP_016866100.1:p.Ser8766=
XM_017010612.1:c.26247C>G (SYNE1)	XP_016866101.1:p.Ser8749=
XM_017010613.1:c.26211C>G (SYNE1)	XP_016866102.1:p.Ser8737=
XM_017010614.1:c.26169C>G (SYNE1)	XP_016866103.1:p.Ser8723=
XM_017010615.1:c.26058C>G (SYNE1)	XP_016866104.1:p.Ser8686=
XM_017010616.1:c.26197C>G (SYNE1)	XP_016866105.1:p.Leu8733Val
XM_017010617.1:c.26152C>G (SYNE1)	XP_016866106.1:p.Leu8718Val
XM_017010618.1:c.26140C>G (SYNE1)	XP_016866107.1:p.Leu8714Val
XM_017010619.1:c.24600C>G (SYNE1)	XP_016866108.1:p.Ser8200=
NM_182961.4:c.26178C>G (SYNE1) MANE Select	NP_892006.3:p.Ser8726=
NM_001328100.2:c.851-2614G>C (ESR1)	NP_001315029.1:n.851-2614G>C
NM_001347701.2:c.2725C>G (SYNE1)	NP_001334630.1:p.Leu909Val
NM_001347702.2:c.2712C>G (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Ser904=
NM_033071.5:c.26034C>G (SYNE1)	NP_149062.2:p.Ser8678=