Canonical Allele Identifier: CA366088816

Gene: SYNE1 ESR1

Linked Data

• dbSNP Id: rs1419899673
• gnomAD v3: 6-152122540-G-A
• gnomAD v4: 6-152122540-G-A
• MyVariant Identifiers: chr6:g.152443675G>A (hg19) ; chr6:g.152122540G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122540G>A , CM000668.2:g.152122540G>A	GRCh38
NC_000006.11:g.152443675G>A , CM000668.1:g.152443675G>A	GRCh37
NC_000006.10:g.152485368G>A	NCBI36
NG_012855.1:g.519860C>T
NG_008493.2:g.470850G>A
NG_012855.2:g.519860C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2824C>T (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Leu942Phe
ENST00000367255.10:c.26290C>T (SYNE1) MANE Select	ENSP00000356224.5:p.Leu8764Phe
ENST00000423061.6:c.26146C>T (SYNE1)	ENSP00000396024.1:p.Leu8716Phe
ENST00000672154.1:c.1633C>T (SYNE1)
ENST00000672169.1:c.2008C>T (SYNE1)
ENST00000673173.1:c.1875C>T (SYNE1)
ENST00000673451.1:c.2140C>T (SYNE1)	ENSP00000500189.1:n.2140C>T
ENST00000341594.9:c.25075C>T (SYNE1)	ENSP00000341887.6:p.Leu8359Phe
ENST00000347037.9:n.3038C>T (SYNE1)
ENST00000354674.4:c.2824C>T (SYNE1)	ENSP00000346701.4:p.Leu942Phe
ENST00000367251.7:c.5066C>T (SYNE1)	ENSP00000356220.3:n.5066C>T
ENST00000367255.9:c.26290C>T (SYNE1)	ENSP00000356224.5:p.Leu8764Phe
ENST00000367256.9:n.9982C>T (SYNE1)
ENST00000367257.8:c.4169C>T (SYNE1)	ENSP00000356226.4:n.4169C>T
ENST00000409694.6:n.9874C>T (SYNE1)
ENST00000423061.5:c.26146C>T (SYNE1)	ENSP00000396024.1:p.Leu8716Phe
ENST00000427531.6:c.851-2726G>A (ESR1)	ENSP00000394721.2:n.851-2726G>A
ENST00000460912.6:n.2904C>T (SYNE1)
ENST00000478916.5:n.6927C>T (SYNE1)
ENST00000539504.5:c.2755C>T (SYNE1)	ENSP00000441052.1:p.Leu919Phe
NM_033071.3:c.26146C>T (SYNE1)	NP_149062.1:p.Leu8716Phe
NM_182961.3:c.26290C>T (SYNE1)	NP_892006.3:p.Leu8764Phe
XM_006715407.1:c.26437C>T (SYNE1)	XP_006715470.1:p.Leu8813Phe
XM_006715408.1:c.26425C>T (SYNE1)	XP_006715471.1:p.Leu8809Phe
XM_006715409.1:c.26416C>T (SYNE1)	XP_006715472.1:p.Leu8806Phe
XM_006715410.1:c.26395C>T (SYNE1)	XP_006715473.1:p.Leu8799Phe
XM_006715411.1:c.26386C>T (SYNE1)	XP_006715474.1:p.Leu8796Phe
XM_006715412.1:c.26380C>T (SYNE1)	XP_006715475.1:p.Leu8794Phe
XM_006715413.1:c.26368C>T (SYNE1)	XP_006715476.1:p.Leu8790Phe
XM_006715414.1:c.26365C>T (SYNE1)	XP_006715477.1:p.Leu8789Phe
XM_006715415.1:c.26326C>T (SYNE1)	XP_006715478.1:p.Leu8776Phe
XM_006715416.1:c.26311C>T (SYNE1)	XP_006715479.1:p.Leu8771Phe
XM_006715417.1:c.26296C>T (SYNE1)	XP_006715480.1:p.Leu8766Phe
XM_006715420.1:c.26284C>T (SYNE1)	XP_006715483.1:p.Leu8762Phe
XM_006715421.1:c.26281C>T (SYNE1)	XP_006715484.1:p.Leu8761Phe
XM_006715422.1:c.26278C>T (SYNE1)	XP_006715485.1:p.Leu8760Phe
XM_006715423.1:c.*101C>T (SYNE1)	XP_006715486.1:n.*101C>T
XM_006715424.1:c.*101C>T (SYNE1)	XP_006715487.1:n.*101C>T
XM_006715425.1:c.*101C>T (SYNE1)	XP_006715488.1:n.*101C>T
XM_011535641.1:c.26434C>T (SYNE1)	XP_011533943.1:p.Leu8812Phe
XM_011535642.1:c.26422C>T (SYNE1)	XP_011533944.1:p.Leu8808Phe
XM_011535643.1:c.26272C>T (SYNE1)	XP_011533945.1:p.Leu8758Phe
XM_011535644.1:c.24712C>T (SYNE1)	XP_011533946.1:p.Leu8238Phe
XM_011535645.1:c.24205C>T (SYNE1)	XP_011533947.1:p.Leu8069Phe
XM_011535647.1:c.19672C>T (SYNE1)	XP_011533949.1:p.Leu6558Phe
NM_001328100.1:c.851-2726G>A (ESR1)	NP_001315029.1:n.851-2726G>A
NM_001347701.1:c.*101C>T (SYNE1)	NP_001334630.1:n.*101C>T
NM_001347702.1:c.2824C>T (SYNE1)	NP_001334631.1:p.Leu942Phe
XM_006715408.2:c.26425C>T (SYNE1)	XP_006715471.1:p.Leu8809Phe
XM_006715410.2:c.26395C>T (SYNE1)	XP_006715473.1:p.Leu8799Phe
XM_006715412.2:c.26380C>T (SYNE1)	XP_006715475.1:p.Leu8794Phe
XM_006715413.2:c.26368C>T (SYNE1)	XP_006715476.1:p.Leu8790Phe
XM_006715415.2:c.26326C>T (SYNE1)	XP_006715478.1:p.Leu8776Phe
XM_006715416.2:c.26311C>T (SYNE1)	XP_006715479.1:p.Leu8771Phe
XM_006715417.2:c.26296C>T (SYNE1)	XP_006715480.1:p.Leu8766Phe
XM_006715420.2:c.26284C>T (SYNE1)	XP_006715483.1:p.Leu8762Phe
XM_006715421.2:c.26281C>T (SYNE1)	XP_006715484.1:p.Leu8761Phe
XM_006715423.2:c.*101C>T (SYNE1)	XP_006715486.1:n.*101C>T
XM_006715424.2:c.*101C>T (SYNE1)	XP_006715487.1:n.*101C>T
XM_006715425.2:c.*101C>T (SYNE1)	XP_006715488.1:n.*101C>T
XM_011535641.2:c.26434C>T (SYNE1)	XP_011533943.1:p.Leu8812Phe
XM_011535642.2:c.26422C>T (SYNE1)	XP_011533944.1:p.Leu8808Phe
XM_011535645.2:c.24205C>T (SYNE1)	XP_011533947.1:p.Leu8069Phe
XM_017010608.1:c.26437C>T (SYNE1)	XP_016866097.1:p.Leu8813Phe
XM_017010609.1:c.26437C>T (SYNE1)	XP_016866098.1:p.Leu8813Phe
XM_017010610.1:c.26416C>T (SYNE1)	XP_016866099.1:p.Leu8806Phe
XM_017010611.2:c.26410C>T (SYNE1)	XP_016866100.1:p.Leu8804Phe
XM_017010612.1:c.26359C>T (SYNE1)	XP_016866101.1:p.Leu8787Phe
XM_017010613.1:c.26323C>T (SYNE1)	XP_016866102.1:p.Leu8775Phe
XM_017010614.1:c.26281C>T (SYNE1)	XP_016866103.1:p.Leu8761Phe
XM_017010615.1:c.26170C>T (SYNE1)	XP_016866104.1:p.Leu8724Phe
XM_017010616.1:c.*101C>T (SYNE1)	XP_016866105.1:n.*101C>T
XM_017010617.1:c.*101C>T (SYNE1)	XP_016866106.1:n.*101C>T
XM_017010618.1:c.*101C>T (SYNE1)	XP_016866107.1:n.*101C>T
XM_017010619.1:c.24712C>T (SYNE1)	XP_016866108.1:p.Leu8238Phe
NM_182961.4:c.26290C>T (SYNE1) MANE Select	NP_892006.3:p.Leu8764Phe
NM_001328100.2:c.851-2726G>A (ESR1)	NP_001315029.1:n.851-2726G>A
NM_001347701.2:c.*101C>T (SYNE1)	NP_001334630.1:n.*101C>T
NM_001347702.2:c.2824C>T (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Leu942Phe
NM_033071.5:c.26146C>T (SYNE1)	NP_149062.2:p.Leu8716Phe