Canonical Allele Identifier: CA366089162

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443765C>G (hg19) ; chr6:g.152122630C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122630C>G , CM000668.2:g.152122630C>G	GRCh38
NC_000006.11:g.152443765C>G , CM000668.1:g.152443765C>G	GRCh37
NC_000006.10:g.152485458C>G	NCBI36
NG_012855.1:g.519770G>C
NG_008493.2:g.470940C>G
NG_012855.2:g.519770G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2734G>C (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Gly912Arg
ENST00000367255.10:c.26200G>C (SYNE1) MANE Select	ENSP00000356224.5:p.Gly8734Arg
ENST00000423061.6:c.26056G>C (SYNE1)	ENSP00000396024.1:p.Gly8686Arg
ENST00000672154.1:c.1543G>C (SYNE1)
ENST00000672169.1:c.1918G>C (SYNE1)
ENST00000673173.1:c.1785G>C (SYNE1)
ENST00000673451.1:c.2050G>C (SYNE1)	ENSP00000500189.1:n.2050G>C
ENST00000341594.9:c.24985G>C (SYNE1)	ENSP00000341887.6:p.Gly8329Arg
ENST00000347037.9:n.2948G>C (SYNE1)
ENST00000354674.4:c.2734G>C (SYNE1)	ENSP00000346701.4:p.Gly912Arg
ENST00000367251.7:c.4976G>C (SYNE1)	ENSP00000356220.3:n.4976G>C
ENST00000367255.9:c.26200G>C (SYNE1)	ENSP00000356224.5:p.Gly8734Arg
ENST00000367256.9:n.9892G>C (SYNE1)
ENST00000367257.8:c.4079G>C (SYNE1)	ENSP00000356226.4:n.4079G>C
ENST00000409694.6:n.9784G>C (SYNE1)
ENST00000423061.5:c.26056G>C (SYNE1)	ENSP00000396024.1:p.Gly8686Arg
ENST00000427531.6:c.851-2636C>G (ESR1)	ENSP00000394721.2:n.851-2636C>G
ENST00000460912.6:n.2814G>C (SYNE1)
ENST00000478916.5:n.6837G>C (SYNE1)
ENST00000536990.5:n.2978G>C (SYNE1)
ENST00000539504.5:c.2665G>C (SYNE1)	ENSP00000441052.1:p.Gly889Arg
NM_033071.3:c.26056G>C (SYNE1)	NP_149062.1:p.Gly8686Arg
NM_182961.3:c.26200G>C (SYNE1)	NP_892006.3:p.Gly8734Arg
XM_006715407.1:c.26347G>C (SYNE1)	XP_006715470.1:p.Gly8783Arg
XM_006715408.1:c.26335G>C (SYNE1)	XP_006715471.1:p.Gly8779Arg
XM_006715409.1:c.26326G>C (SYNE1)	XP_006715472.1:p.Gly8776Arg
XM_006715410.1:c.26305G>C (SYNE1)	XP_006715473.1:p.Gly8769Arg
XM_006715411.1:c.26296G>C (SYNE1)	XP_006715474.1:p.Gly8766Arg
XM_006715412.1:c.26290G>C (SYNE1)	XP_006715475.1:p.Gly8764Arg
XM_006715413.1:c.26278G>C (SYNE1)	XP_006715476.1:p.Gly8760Arg
XM_006715414.1:c.26275G>C (SYNE1)	XP_006715477.1:p.Gly8759Arg
XM_006715415.1:c.26236G>C (SYNE1)	XP_006715478.1:p.Gly8746Arg
XM_006715416.1:c.26221G>C (SYNE1)	XP_006715479.1:p.Gly8741Arg
XM_006715417.1:c.26206G>C (SYNE1)	XP_006715480.1:p.Gly8736Arg
XM_006715420.1:c.26194G>C (SYNE1)	XP_006715483.1:p.Gly8732Arg
XM_006715421.1:c.26191G>C (SYNE1)	XP_006715484.1:p.Gly8731Arg
XM_006715422.1:c.26188G>C (SYNE1)	XP_006715485.1:p.Gly8730Arg
XM_006715423.1:c.*11G>C (SYNE1)	XP_006715486.1:n.*11G>C
XM_006715424.1:c.*11G>C (SYNE1)	XP_006715487.1:n.*11G>C
XM_006715425.1:c.*11G>C (SYNE1)	XP_006715488.1:n.*11G>C
XM_011535641.1:c.26344G>C (SYNE1)	XP_011533943.1:p.Gly8782Arg
XM_011535642.1:c.26332G>C (SYNE1)	XP_011533944.1:p.Gly8778Arg
XM_011535643.1:c.26182G>C (SYNE1)	XP_011533945.1:p.Gly8728Arg
XM_011535644.1:c.24622G>C (SYNE1)	XP_011533946.1:p.Gly8208Arg
XM_011535645.1:c.24115G>C (SYNE1)	XP_011533947.1:p.Gly8039Arg
XM_011535647.1:c.19582G>C (SYNE1)	XP_011533949.1:p.Gly6528Arg
NM_001328100.1:c.851-2636C>G (ESR1)	NP_001315029.1:n.851-2636C>G
NM_001347701.1:c.*11G>C (SYNE1)	NP_001334630.1:n.*11G>C
NM_001347702.1:c.2734G>C (SYNE1)	NP_001334631.1:p.Gly912Arg
XM_006715408.2:c.26335G>C (SYNE1)	XP_006715471.1:p.Gly8779Arg
XM_006715410.2:c.26305G>C (SYNE1)	XP_006715473.1:p.Gly8769Arg
XM_006715412.2:c.26290G>C (SYNE1)	XP_006715475.1:p.Gly8764Arg
XM_006715413.2:c.26278G>C (SYNE1)	XP_006715476.1:p.Gly8760Arg
XM_006715415.2:c.26236G>C (SYNE1)	XP_006715478.1:p.Gly8746Arg
XM_006715416.2:c.26221G>C (SYNE1)	XP_006715479.1:p.Gly8741Arg
XM_006715417.2:c.26206G>C (SYNE1)	XP_006715480.1:p.Gly8736Arg
XM_006715420.2:c.26194G>C (SYNE1)	XP_006715483.1:p.Gly8732Arg
XM_006715421.2:c.26191G>C (SYNE1)	XP_006715484.1:p.Gly8731Arg
XM_006715423.2:c.*11G>C (SYNE1)	XP_006715486.1:n.*11G>C
XM_006715424.2:c.*11G>C (SYNE1)	XP_006715487.1:n.*11G>C
XM_006715425.2:c.*11G>C (SYNE1)	XP_006715488.1:n.*11G>C
XM_011535641.2:c.26344G>C (SYNE1)	XP_011533943.1:p.Gly8782Arg
XM_011535642.2:c.26332G>C (SYNE1)	XP_011533944.1:p.Gly8778Arg
XM_011535645.2:c.24115G>C (SYNE1)	XP_011533947.1:p.Gly8039Arg
XM_017010608.1:c.26347G>C (SYNE1)	XP_016866097.1:p.Gly8783Arg
XM_017010609.1:c.26347G>C (SYNE1)	XP_016866098.1:p.Gly8783Arg
XM_017010610.1:c.26326G>C (SYNE1)	XP_016866099.1:p.Gly8776Arg
XM_017010611.2:c.26320G>C (SYNE1)	XP_016866100.1:p.Gly8774Arg
XM_017010612.1:c.26269G>C (SYNE1)	XP_016866101.1:p.Gly8757Arg
XM_017010613.1:c.26233G>C (SYNE1)	XP_016866102.1:p.Gly8745Arg
XM_017010614.1:c.26191G>C (SYNE1)	XP_016866103.1:p.Gly8731Arg
XM_017010615.1:c.26080G>C (SYNE1)	XP_016866104.1:p.Gly8694Arg
XM_017010616.1:c.*11G>C (SYNE1)	XP_016866105.1:n.*11G>C
XM_017010617.1:c.*11G>C (SYNE1)	XP_016866106.1:n.*11G>C
XM_017010618.1:c.*11G>C (SYNE1)	XP_016866107.1:n.*11G>C
XM_017010619.1:c.24622G>C (SYNE1)	XP_016866108.1:p.Gly8208Arg
NM_182961.4:c.26200G>C (SYNE1) MANE Select	NP_892006.3:p.Gly8734Arg
NM_001328100.2:c.851-2636C>G (ESR1)	NP_001315029.1:n.851-2636C>G
NM_001347701.2:c.*11G>C (SYNE1)	NP_001334630.1:n.*11G>C
NM_001347702.2:c.2734G>C (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Gly912Arg
NM_033071.5:c.26056G>C (SYNE1)	NP_149062.2:p.Gly8686Arg