Canonical Allele Identifier: CA366088896

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443698A>T (hg19) ; chr6:g.152122563A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122563A>T , CM000668.2:g.152122563A>T	GRCh38
NC_000006.11:g.152443698A>T , CM000668.1:g.152443698A>T	GRCh37
NC_000006.10:g.152485391A>T	NCBI36
NG_012855.1:g.519837T>A
NG_008493.2:g.470873A>T
NG_012855.2:g.519837T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2801T>A (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Leu934His
ENST00000367255.10:c.26267T>A (SYNE1) MANE Select	ENSP00000356224.5:p.Leu8756His
ENST00000423061.6:c.26123T>A (SYNE1)	ENSP00000396024.1:p.Leu8708His
ENST00000672154.1:c.1610T>A (SYNE1)
ENST00000672169.1:c.1985T>A (SYNE1)
ENST00000673173.1:c.1852T>A (SYNE1)
ENST00000673451.1:c.2117T>A (SYNE1)	ENSP00000500189.1:n.2117T>A
ENST00000341594.9:c.25052T>A (SYNE1)	ENSP00000341887.6:p.Leu8351His
ENST00000347037.9:n.3015T>A (SYNE1)
ENST00000354674.4:c.2801T>A (SYNE1)	ENSP00000346701.4:p.Leu934His
ENST00000367251.7:c.5043T>A (SYNE1)	ENSP00000356220.3:n.5043T>A
ENST00000367255.9:c.26267T>A (SYNE1)	ENSP00000356224.5:p.Leu8756His
ENST00000367256.9:n.9959T>A (SYNE1)
ENST00000367257.8:c.4146T>A (SYNE1)	ENSP00000356226.4:n.4146T>A
ENST00000409694.6:n.9851T>A (SYNE1)
ENST00000423061.5:c.26123T>A (SYNE1)	ENSP00000396024.1:p.Leu8708His
ENST00000427531.6:c.851-2703A>T (ESR1)	ENSP00000394721.2:n.851-2703A>T
ENST00000460912.6:n.2881T>A (SYNE1)
ENST00000478916.5:n.6904T>A (SYNE1)
ENST00000539504.5:c.2732T>A (SYNE1)	ENSP00000441052.1:p.Leu911His
NM_033071.3:c.26123T>A (SYNE1)	NP_149062.1:p.Leu8708His
NM_182961.3:c.26267T>A (SYNE1)	NP_892006.3:p.Leu8756His
XM_006715407.1:c.26414T>A (SYNE1)	XP_006715470.1:p.Leu8805His
XM_006715408.1:c.26402T>A (SYNE1)	XP_006715471.1:p.Leu8801His
XM_006715409.1:c.26393T>A (SYNE1)	XP_006715472.1:p.Leu8798His
XM_006715410.1:c.26372T>A (SYNE1)	XP_006715473.1:p.Leu8791His
XM_006715411.1:c.26363T>A (SYNE1)	XP_006715474.1:p.Leu8788His
XM_006715412.1:c.26357T>A (SYNE1)	XP_006715475.1:p.Leu8786His
XM_006715413.1:c.26345T>A (SYNE1)	XP_006715476.1:p.Leu8782His
XM_006715414.1:c.26342T>A (SYNE1)	XP_006715477.1:p.Leu8781His
XM_006715415.1:c.26303T>A (SYNE1)	XP_006715478.1:p.Leu8768His
XM_006715416.1:c.26288T>A (SYNE1)	XP_006715479.1:p.Leu8763His
XM_006715417.1:c.26273T>A (SYNE1)	XP_006715480.1:p.Leu8758His
XM_006715420.1:c.26261T>A (SYNE1)	XP_006715483.1:p.Leu8754His
XM_006715421.1:c.26258T>A (SYNE1)	XP_006715484.1:p.Leu8753His
XM_006715422.1:c.26255T>A (SYNE1)	XP_006715485.1:p.Leu8752His
XM_006715423.1:c.*78T>A (SYNE1)	XP_006715486.1:n.*78T>A
XM_006715424.1:c.*78T>A (SYNE1)	XP_006715487.1:n.*78T>A
XM_006715425.1:c.*78T>A (SYNE1)	XP_006715488.1:n.*78T>A
XM_011535641.1:c.26411T>A (SYNE1)	XP_011533943.1:p.Leu8804His
XM_011535642.1:c.26399T>A (SYNE1)	XP_011533944.1:p.Leu8800His
XM_011535643.1:c.26249T>A (SYNE1)	XP_011533945.1:p.Leu8750His
XM_011535644.1:c.24689T>A (SYNE1)	XP_011533946.1:p.Leu8230His
XM_011535645.1:c.24182T>A (SYNE1)	XP_011533947.1:p.Leu8061His
XM_011535647.1:c.19649T>A (SYNE1)	XP_011533949.1:p.Leu6550His
NM_001328100.1:c.851-2703A>T (ESR1)	NP_001315029.1:n.851-2703A>T
NM_001347701.1:c.*78T>A (SYNE1)	NP_001334630.1:n.*78T>A
NM_001347702.1:c.2801T>A (SYNE1)	NP_001334631.1:p.Leu934His
XM_006715408.2:c.26402T>A (SYNE1)	XP_006715471.1:p.Leu8801His
XM_006715410.2:c.26372T>A (SYNE1)	XP_006715473.1:p.Leu8791His
XM_006715412.2:c.26357T>A (SYNE1)	XP_006715475.1:p.Leu8786His
XM_006715413.2:c.26345T>A (SYNE1)	XP_006715476.1:p.Leu8782His
XM_006715415.2:c.26303T>A (SYNE1)	XP_006715478.1:p.Leu8768His
XM_006715416.2:c.26288T>A (SYNE1)	XP_006715479.1:p.Leu8763His
XM_006715417.2:c.26273T>A (SYNE1)	XP_006715480.1:p.Leu8758His
XM_006715420.2:c.26261T>A (SYNE1)	XP_006715483.1:p.Leu8754His
XM_006715421.2:c.26258T>A (SYNE1)	XP_006715484.1:p.Leu8753His
XM_006715423.2:c.*78T>A (SYNE1)	XP_006715486.1:n.*78T>A
XM_006715424.2:c.*78T>A (SYNE1)	XP_006715487.1:n.*78T>A
XM_006715425.2:c.*78T>A (SYNE1)	XP_006715488.1:n.*78T>A
XM_011535641.2:c.26411T>A (SYNE1)	XP_011533943.1:p.Leu8804His
XM_011535642.2:c.26399T>A (SYNE1)	XP_011533944.1:p.Leu8800His
XM_011535645.2:c.24182T>A (SYNE1)	XP_011533947.1:p.Leu8061His
XM_017010608.1:c.26414T>A (SYNE1)	XP_016866097.1:p.Leu8805His
XM_017010609.1:c.26414T>A (SYNE1)	XP_016866098.1:p.Leu8805His
XM_017010610.1:c.26393T>A (SYNE1)	XP_016866099.1:p.Leu8798His
XM_017010611.2:c.26387T>A (SYNE1)	XP_016866100.1:p.Leu8796His
XM_017010612.1:c.26336T>A (SYNE1)	XP_016866101.1:p.Leu8779His
XM_017010613.1:c.26300T>A (SYNE1)	XP_016866102.1:p.Leu8767His
XM_017010614.1:c.26258T>A (SYNE1)	XP_016866103.1:p.Leu8753His
XM_017010615.1:c.26147T>A (SYNE1)	XP_016866104.1:p.Leu8716His
XM_017010616.1:c.*78T>A (SYNE1)	XP_016866105.1:n.*78T>A
XM_017010617.1:c.*78T>A (SYNE1)	XP_016866106.1:n.*78T>A
XM_017010618.1:c.*78T>A (SYNE1)	XP_016866107.1:n.*78T>A
XM_017010619.1:c.24689T>A (SYNE1)	XP_016866108.1:p.Leu8230His
NM_182961.4:c.26267T>A (SYNE1) MANE Select	NP_892006.3:p.Leu8756His
NM_001328100.2:c.851-2703A>T (ESR1)	NP_001315029.1:n.851-2703A>T
NM_001347701.2:c.*78T>A (SYNE1)	NP_001334630.1:n.*78T>A
NM_001347702.2:c.2801T>A (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Leu934His
NM_033071.5:c.26123T>A (SYNE1)	NP_149062.2:p.Leu8708His