Canonical Allele Identifier: CA366088776

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443663A>G (hg19) ; chr6:g.152122528A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122528A>G , CM000668.2:g.152122528A>G	GRCh38
NC_000006.11:g.152443663A>G , CM000668.1:g.152443663A>G	GRCh37
NC_000006.10:g.152485356A>G	NCBI36
NG_012855.1:g.519872T>C
NG_008493.2:g.470838A>G
NG_012855.2:g.519872T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2836T>C (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Ser946Pro
ENST00000367255.10:c.26302T>C (SYNE1) MANE Select	ENSP00000356224.5:p.Ser8768Pro
ENST00000423061.6:c.26158T>C (SYNE1)	ENSP00000396024.1:p.Ser8720Pro
ENST00000672154.1:c.1645T>C (SYNE1)
ENST00000672169.1:c.2020T>C (SYNE1)
ENST00000673173.1:c.1887T>C (SYNE1)
ENST00000673451.1:c.2152T>C (SYNE1)	ENSP00000500189.1:n.2152T>C
ENST00000341594.9:c.25087T>C (SYNE1)	ENSP00000341887.6:p.Ser8363Pro
ENST00000347037.9:n.3050T>C (SYNE1)
ENST00000354674.4:c.2836T>C (SYNE1)	ENSP00000346701.4:p.Ser946Pro
ENST00000367251.7:c.5078T>C (SYNE1)	ENSP00000356220.3:n.5078T>C
ENST00000367255.9:c.26302T>C (SYNE1)	ENSP00000356224.5:p.Ser8768Pro
ENST00000367256.9:n.9994T>C (SYNE1)
ENST00000367257.8:c.4181T>C (SYNE1)	ENSP00000356226.4:n.4181T>C
ENST00000409694.6:n.9886T>C (SYNE1)
ENST00000423061.5:c.26158T>C (SYNE1)	ENSP00000396024.1:p.Ser8720Pro
ENST00000427531.6:c.851-2738A>G (ESR1)	ENSP00000394721.2:n.851-2738A>G
ENST00000460912.6:n.2916T>C (SYNE1)
ENST00000478916.5:n.6939T>C (SYNE1)
ENST00000539504.5:c.2767T>C (SYNE1)	ENSP00000441052.1:p.Ser923Pro
NM_033071.3:c.26158T>C (SYNE1)	NP_149062.1:p.Ser8720Pro
NM_182961.3:c.26302T>C (SYNE1)	NP_892006.3:p.Ser8768Pro
XM_006715407.1:c.26449T>C (SYNE1)	XP_006715470.1:p.Ser8817Pro
XM_006715408.1:c.26437T>C (SYNE1)	XP_006715471.1:p.Ser8813Pro
XM_006715409.1:c.26428T>C (SYNE1)	XP_006715472.1:p.Ser8810Pro
XM_006715410.1:c.26407T>C (SYNE1)	XP_006715473.1:p.Ser8803Pro
XM_006715411.1:c.26398T>C (SYNE1)	XP_006715474.1:p.Ser8800Pro
XM_006715412.1:c.26392T>C (SYNE1)	XP_006715475.1:p.Ser8798Pro
XM_006715413.1:c.26380T>C (SYNE1)	XP_006715476.1:p.Ser8794Pro
XM_006715414.1:c.26377T>C (SYNE1)	XP_006715477.1:p.Ser8793Pro
XM_006715415.1:c.26338T>C (SYNE1)	XP_006715478.1:p.Ser8780Pro
XM_006715416.1:c.26323T>C (SYNE1)	XP_006715479.1:p.Ser8775Pro
XM_006715417.1:c.26308T>C (SYNE1)	XP_006715480.1:p.Ser8770Pro
XM_006715420.1:c.26296T>C (SYNE1)	XP_006715483.1:p.Ser8766Pro
XM_006715421.1:c.26293T>C (SYNE1)	XP_006715484.1:p.Ser8765Pro
XM_006715422.1:c.26290T>C (SYNE1)	XP_006715485.1:p.Ser8764Pro
XM_006715423.1:c.*113T>C (SYNE1)	XP_006715486.1:n.*113T>C
XM_006715424.1:c.*113T>C (SYNE1)	XP_006715487.1:n.*113T>C
XM_006715425.1:c.*113T>C (SYNE1)	XP_006715488.1:n.*113T>C
XM_011535641.1:c.26446T>C (SYNE1)	XP_011533943.1:p.Ser8816Pro
XM_011535642.1:c.26434T>C (SYNE1)	XP_011533944.1:p.Ser8812Pro
XM_011535643.1:c.26284T>C (SYNE1)	XP_011533945.1:p.Ser8762Pro
XM_011535644.1:c.24724T>C (SYNE1)	XP_011533946.1:p.Ser8242Pro
XM_011535645.1:c.24217T>C (SYNE1)	XP_011533947.1:p.Ser8073Pro
XM_011535647.1:c.19684T>C (SYNE1)	XP_011533949.1:p.Ser6562Pro
NM_001328100.1:c.851-2738A>G (ESR1)	NP_001315029.1:n.851-2738A>G
NM_001347701.1:c.*113T>C (SYNE1)	NP_001334630.1:n.*113T>C
NM_001347702.1:c.2836T>C (SYNE1)	NP_001334631.1:p.Ser946Pro
XM_006715408.2:c.26437T>C (SYNE1)	XP_006715471.1:p.Ser8813Pro
XM_006715410.2:c.26407T>C (SYNE1)	XP_006715473.1:p.Ser8803Pro
XM_006715412.2:c.26392T>C (SYNE1)	XP_006715475.1:p.Ser8798Pro
XM_006715413.2:c.26380T>C (SYNE1)	XP_006715476.1:p.Ser8794Pro
XM_006715415.2:c.26338T>C (SYNE1)	XP_006715478.1:p.Ser8780Pro
XM_006715416.2:c.26323T>C (SYNE1)	XP_006715479.1:p.Ser8775Pro
XM_006715417.2:c.26308T>C (SYNE1)	XP_006715480.1:p.Ser8770Pro
XM_006715420.2:c.26296T>C (SYNE1)	XP_006715483.1:p.Ser8766Pro
XM_006715421.2:c.26293T>C (SYNE1)	XP_006715484.1:p.Ser8765Pro
XM_006715423.2:c.*113T>C (SYNE1)	XP_006715486.1:n.*113T>C
XM_006715424.2:c.*113T>C (SYNE1)	XP_006715487.1:n.*113T>C
XM_006715425.2:c.*113T>C (SYNE1)	XP_006715488.1:n.*113T>C
XM_011535641.2:c.26446T>C (SYNE1)	XP_011533943.1:p.Ser8816Pro
XM_011535642.2:c.26434T>C (SYNE1)	XP_011533944.1:p.Ser8812Pro
XM_011535645.2:c.24217T>C (SYNE1)	XP_011533947.1:p.Ser8073Pro
XM_017010608.1:c.26449T>C (SYNE1)	XP_016866097.1:p.Ser8817Pro
XM_017010609.1:c.26449T>C (SYNE1)	XP_016866098.1:p.Ser8817Pro
XM_017010610.1:c.26428T>C (SYNE1)	XP_016866099.1:p.Ser8810Pro
XM_017010611.2:c.26422T>C (SYNE1)	XP_016866100.1:p.Ser8808Pro
XM_017010612.1:c.26371T>C (SYNE1)	XP_016866101.1:p.Ser8791Pro
XM_017010613.1:c.26335T>C (SYNE1)	XP_016866102.1:p.Ser8779Pro
XM_017010614.1:c.26293T>C (SYNE1)	XP_016866103.1:p.Ser8765Pro
XM_017010615.1:c.26182T>C (SYNE1)	XP_016866104.1:p.Ser8728Pro
XM_017010616.1:c.*113T>C (SYNE1)	XP_016866105.1:n.*113T>C
XM_017010617.1:c.*113T>C (SYNE1)	XP_016866106.1:n.*113T>C
XM_017010618.1:c.*113T>C (SYNE1)	XP_016866107.1:n.*113T>C
XM_017010619.1:c.24724T>C (SYNE1)	XP_016866108.1:p.Ser8242Pro
NM_182961.4:c.26302T>C (SYNE1) MANE Select	NP_892006.3:p.Ser8768Pro
NM_001328100.2:c.851-2738A>G (ESR1)	NP_001315029.1:n.851-2738A>G
NM_001347701.2:c.*113T>C (SYNE1)	NP_001334630.1:n.*113T>C
NM_001347702.2:c.2836T>C (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Ser946Pro
NM_033071.5:c.26158T>C (SYNE1)	NP_149062.2:p.Ser8720Pro