Canonical Allele Identifier: CA366088925

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443705G>C (hg19) ; chr6:g.152122570G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122570G>C , CM000668.2:g.152122570G>C	GRCh38
NC_000006.11:g.152443705G>C , CM000668.1:g.152443705G>C	GRCh37
NC_000006.10:g.152485398G>C	NCBI36
NG_012855.1:g.519830C>G
NG_008493.2:g.470880G>C
NG_012855.2:g.519830C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2794C>G (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Leu932Val
ENST00000367255.10:c.26260C>G (SYNE1) MANE Select	ENSP00000356224.5:p.Leu8754Val
ENST00000423061.6:c.26116C>G (SYNE1)	ENSP00000396024.1:p.Leu8706Val
ENST00000672154.1:c.1603C>G (SYNE1)
ENST00000672169.1:c.1978C>G (SYNE1)
ENST00000673173.1:c.1845C>G (SYNE1)
ENST00000673451.1:c.2110C>G (SYNE1)	ENSP00000500189.1:n.2110C>G
ENST00000341594.9:c.25045C>G (SYNE1)	ENSP00000341887.6:p.Leu8349Val
ENST00000347037.9:n.3008C>G (SYNE1)
ENST00000354674.4:c.2794C>G (SYNE1)	ENSP00000346701.4:p.Leu932Val
ENST00000367251.7:c.5036C>G (SYNE1)	ENSP00000356220.3:n.5036C>G
ENST00000367255.9:c.26260C>G (SYNE1)	ENSP00000356224.5:p.Leu8754Val
ENST00000367256.9:n.9952C>G (SYNE1)
ENST00000367257.8:c.4139C>G (SYNE1)	ENSP00000356226.4:n.4139C>G
ENST00000409694.6:n.9844C>G (SYNE1)
ENST00000423061.5:c.26116C>G (SYNE1)	ENSP00000396024.1:p.Leu8706Val
ENST00000427531.6:c.851-2696G>C (ESR1)	ENSP00000394721.2:n.851-2696G>C
ENST00000460912.6:n.2874C>G (SYNE1)
ENST00000478916.5:n.6897C>G (SYNE1)
ENST00000539504.5:c.2725C>G (SYNE1)	ENSP00000441052.1:p.Leu909Val
NM_033071.3:c.26116C>G (SYNE1)	NP_149062.1:p.Leu8706Val
NM_182961.3:c.26260C>G (SYNE1)	NP_892006.3:p.Leu8754Val
XM_006715407.1:c.26407C>G (SYNE1)	XP_006715470.1:p.Leu8803Val
XM_006715408.1:c.26395C>G (SYNE1)	XP_006715471.1:p.Leu8799Val
XM_006715409.1:c.26386C>G (SYNE1)	XP_006715472.1:p.Leu8796Val
XM_006715410.1:c.26365C>G (SYNE1)	XP_006715473.1:p.Leu8789Val
XM_006715411.1:c.26356C>G (SYNE1)	XP_006715474.1:p.Leu8786Val
XM_006715412.1:c.26350C>G (SYNE1)	XP_006715475.1:p.Leu8784Val
XM_006715413.1:c.26338C>G (SYNE1)	XP_006715476.1:p.Leu8780Val
XM_006715414.1:c.26335C>G (SYNE1)	XP_006715477.1:p.Leu8779Val
XM_006715415.1:c.26296C>G (SYNE1)	XP_006715478.1:p.Leu8766Val
XM_006715416.1:c.26281C>G (SYNE1)	XP_006715479.1:p.Leu8761Val
XM_006715417.1:c.26266C>G (SYNE1)	XP_006715480.1:p.Leu8756Val
XM_006715420.1:c.26254C>G (SYNE1)	XP_006715483.1:p.Leu8752Val
XM_006715421.1:c.26251C>G (SYNE1)	XP_006715484.1:p.Leu8751Val
XM_006715422.1:c.26248C>G (SYNE1)	XP_006715485.1:p.Leu8750Val
XM_006715423.1:c.*71C>G (SYNE1)	XP_006715486.1:n.*71C>G
XM_006715424.1:c.*71C>G (SYNE1)	XP_006715487.1:n.*71C>G
XM_006715425.1:c.*71C>G (SYNE1)	XP_006715488.1:n.*71C>G
XM_011535641.1:c.26404C>G (SYNE1)	XP_011533943.1:p.Leu8802Val
XM_011535642.1:c.26392C>G (SYNE1)	XP_011533944.1:p.Leu8798Val
XM_011535643.1:c.26242C>G (SYNE1)	XP_011533945.1:p.Leu8748Val
XM_011535644.1:c.24682C>G (SYNE1)	XP_011533946.1:p.Leu8228Val
XM_011535645.1:c.24175C>G (SYNE1)	XP_011533947.1:p.Leu8059Val
XM_011535647.1:c.19642C>G (SYNE1)	XP_011533949.1:p.Leu6548Val
NM_001328100.1:c.851-2696G>C (ESR1)	NP_001315029.1:n.851-2696G>C
NM_001347701.1:c.*71C>G (SYNE1)	NP_001334630.1:n.*71C>G
NM_001347702.1:c.2794C>G (SYNE1)	NP_001334631.1:p.Leu932Val
XM_006715408.2:c.26395C>G (SYNE1)	XP_006715471.1:p.Leu8799Val
XM_006715410.2:c.26365C>G (SYNE1)	XP_006715473.1:p.Leu8789Val
XM_006715412.2:c.26350C>G (SYNE1)	XP_006715475.1:p.Leu8784Val
XM_006715413.2:c.26338C>G (SYNE1)	XP_006715476.1:p.Leu8780Val
XM_006715415.2:c.26296C>G (SYNE1)	XP_006715478.1:p.Leu8766Val
XM_006715416.2:c.26281C>G (SYNE1)	XP_006715479.1:p.Leu8761Val
XM_006715417.2:c.26266C>G (SYNE1)	XP_006715480.1:p.Leu8756Val
XM_006715420.2:c.26254C>G (SYNE1)	XP_006715483.1:p.Leu8752Val
XM_006715421.2:c.26251C>G (SYNE1)	XP_006715484.1:p.Leu8751Val
XM_006715423.2:c.*71C>G (SYNE1)	XP_006715486.1:n.*71C>G
XM_006715424.2:c.*71C>G (SYNE1)	XP_006715487.1:n.*71C>G
XM_006715425.2:c.*71C>G (SYNE1)	XP_006715488.1:n.*71C>G
XM_011535641.2:c.26404C>G (SYNE1)	XP_011533943.1:p.Leu8802Val
XM_011535642.2:c.26392C>G (SYNE1)	XP_011533944.1:p.Leu8798Val
XM_011535645.2:c.24175C>G (SYNE1)	XP_011533947.1:p.Leu8059Val
XM_017010608.1:c.26407C>G (SYNE1)	XP_016866097.1:p.Leu8803Val
XM_017010609.1:c.26407C>G (SYNE1)	XP_016866098.1:p.Leu8803Val
XM_017010610.1:c.26386C>G (SYNE1)	XP_016866099.1:p.Leu8796Val
XM_017010611.2:c.26380C>G (SYNE1)	XP_016866100.1:p.Leu8794Val
XM_017010612.1:c.26329C>G (SYNE1)	XP_016866101.1:p.Leu8777Val
XM_017010613.1:c.26293C>G (SYNE1)	XP_016866102.1:p.Leu8765Val
XM_017010614.1:c.26251C>G (SYNE1)	XP_016866103.1:p.Leu8751Val
XM_017010615.1:c.26140C>G (SYNE1)	XP_016866104.1:p.Leu8714Val
XM_017010616.1:c.*71C>G (SYNE1)	XP_016866105.1:n.*71C>G
XM_017010617.1:c.*71C>G (SYNE1)	XP_016866106.1:n.*71C>G
XM_017010618.1:c.*71C>G (SYNE1)	XP_016866107.1:n.*71C>G
XM_017010619.1:c.24682C>G (SYNE1)	XP_016866108.1:p.Leu8228Val
NM_182961.4:c.26260C>G (SYNE1) MANE Select	NP_892006.3:p.Leu8754Val
NM_001328100.2:c.851-2696G>C (ESR1)	NP_001315029.1:n.851-2696G>C
NM_001347701.2:c.*71C>G (SYNE1)	NP_001334630.1:n.*71C>G
NM_001347702.2:c.2794C>G (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Leu932Val
NM_033071.5:c.26116C>G (SYNE1)	NP_149062.2:p.Leu8706Val