Canonical Allele Identifier: CA366088683

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443645A>C (hg19) ; chr6:g.152122510A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122510A>C , CM000668.2:g.152122510A>C	GRCh38
NC_000006.11:g.152443645A>C , CM000668.1:g.152443645A>C	GRCh37
NC_000006.10:g.152485338A>C	NCBI36
NG_012855.1:g.519890T>G
NG_008493.2:g.470820A>C
NG_012855.2:g.519890T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2854T>G (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Cys952Gly
ENST00000367255.10:c.26320T>G (SYNE1) MANE Select	ENSP00000356224.5:p.Cys8774Gly
ENST00000423061.6:c.26176T>G (SYNE1)	ENSP00000396024.1:p.Cys8726Gly
ENST00000672154.1:c.1663T>G (SYNE1)
ENST00000672169.1:c.2038T>G (SYNE1)
ENST00000673173.1:c.1905T>G (SYNE1)
ENST00000673451.1:c.2170T>G (SYNE1)	ENSP00000500189.1:n.2170T>G
ENST00000341594.9:c.25105T>G (SYNE1)	ENSP00000341887.6:p.Cys8369Gly
ENST00000347037.9:n.3068T>G (SYNE1)
ENST00000354674.4:c.2854T>G (SYNE1)	ENSP00000346701.4:p.Cys952Gly
ENST00000367251.7:c.5096T>G (SYNE1)	ENSP00000356220.3:n.5096T>G
ENST00000367255.9:c.26320T>G (SYNE1)	ENSP00000356224.5:p.Cys8774Gly
ENST00000367256.9:n.10012T>G (SYNE1)
ENST00000367257.8:c.4199T>G (SYNE1)	ENSP00000356226.4:n.4199T>G
ENST00000409694.6:n.9904T>G (SYNE1)
ENST00000423061.5:c.26176T>G (SYNE1)	ENSP00000396024.1:p.Cys8726Gly
ENST00000427531.6:c.851-2756A>C (ESR1)	ENSP00000394721.2:n.851-2756A>C
ENST00000460912.6:n.2934T>G (SYNE1)
ENST00000478916.5:n.6957T>G (SYNE1)
ENST00000539504.5:c.2785T>G (SYNE1)	ENSP00000441052.1:p.Cys929Gly
NM_033071.3:c.26176T>G (SYNE1)	NP_149062.1:p.Cys8726Gly
NM_182961.3:c.26320T>G (SYNE1)	NP_892006.3:p.Cys8774Gly
XM_006715407.1:c.26467T>G (SYNE1)	XP_006715470.1:p.Cys8823Gly
XM_006715408.1:c.26455T>G (SYNE1)	XP_006715471.1:p.Cys8819Gly
XM_006715409.1:c.26446T>G (SYNE1)	XP_006715472.1:p.Cys8816Gly
XM_006715410.1:c.26425T>G (SYNE1)	XP_006715473.1:p.Cys8809Gly
XM_006715411.1:c.26416T>G (SYNE1)	XP_006715474.1:p.Cys8806Gly
XM_006715412.1:c.26410T>G (SYNE1)	XP_006715475.1:p.Cys8804Gly
XM_006715413.1:c.26398T>G (SYNE1)	XP_006715476.1:p.Cys8800Gly
XM_006715414.1:c.26395T>G (SYNE1)	XP_006715477.1:p.Cys8799Gly
XM_006715415.1:c.26356T>G (SYNE1)	XP_006715478.1:p.Cys8786Gly
XM_006715416.1:c.26341T>G (SYNE1)	XP_006715479.1:p.Cys8781Gly
XM_006715417.1:c.26326T>G (SYNE1)	XP_006715480.1:p.Cys8776Gly
XM_006715420.1:c.26314T>G (SYNE1)	XP_006715483.1:p.Cys8772Gly
XM_006715421.1:c.26311T>G (SYNE1)	XP_006715484.1:p.Cys8771Gly
XM_006715422.1:c.26308T>G (SYNE1)	XP_006715485.1:p.Cys8770Gly
XM_006715423.1:c.*131T>G (SYNE1)	XP_006715486.1:n.*131T>G
XM_006715424.1:c.*131T>G (SYNE1)	XP_006715487.1:n.*131T>G
XM_006715425.1:c.*131T>G (SYNE1)	XP_006715488.1:n.*131T>G
XM_011535641.1:c.26464T>G (SYNE1)	XP_011533943.1:p.Cys8822Gly
XM_011535642.1:c.26452T>G (SYNE1)	XP_011533944.1:p.Cys8818Gly
XM_011535643.1:c.26302T>G (SYNE1)	XP_011533945.1:p.Cys8768Gly
XM_011535644.1:c.24742T>G (SYNE1)	XP_011533946.1:p.Cys8248Gly
XM_011535645.1:c.24235T>G (SYNE1)	XP_011533947.1:p.Cys8079Gly
XM_011535647.1:c.19702T>G (SYNE1)	XP_011533949.1:p.Cys6568Gly
NM_001328100.1:c.851-2756A>C (ESR1)	NP_001315029.1:n.851-2756A>C
NM_001347701.1:c.*131T>G (SYNE1)	NP_001334630.1:n.*131T>G
NM_001347702.1:c.2854T>G (SYNE1)	NP_001334631.1:p.Cys952Gly
XM_006715408.2:c.26455T>G (SYNE1)	XP_006715471.1:p.Cys8819Gly
XM_006715410.2:c.26425T>G (SYNE1)	XP_006715473.1:p.Cys8809Gly
XM_006715412.2:c.26410T>G (SYNE1)	XP_006715475.1:p.Cys8804Gly
XM_006715413.2:c.26398T>G (SYNE1)	XP_006715476.1:p.Cys8800Gly
XM_006715415.2:c.26356T>G (SYNE1)	XP_006715478.1:p.Cys8786Gly
XM_006715416.2:c.26341T>G (SYNE1)	XP_006715479.1:p.Cys8781Gly
XM_006715417.2:c.26326T>G (SYNE1)	XP_006715480.1:p.Cys8776Gly
XM_006715420.2:c.26314T>G (SYNE1)	XP_006715483.1:p.Cys8772Gly
XM_006715421.2:c.26311T>G (SYNE1)	XP_006715484.1:p.Cys8771Gly
XM_006715423.2:c.*131T>G (SYNE1)	XP_006715486.1:n.*131T>G
XM_006715424.2:c.*131T>G (SYNE1)	XP_006715487.1:n.*131T>G
XM_006715425.2:c.*131T>G (SYNE1)	XP_006715488.1:n.*131T>G
XM_011535641.2:c.26464T>G (SYNE1)	XP_011533943.1:p.Cys8822Gly
XM_011535642.2:c.26452T>G (SYNE1)	XP_011533944.1:p.Cys8818Gly
XM_011535645.2:c.24235T>G (SYNE1)	XP_011533947.1:p.Cys8079Gly
XM_017010608.1:c.26467T>G (SYNE1)	XP_016866097.1:p.Cys8823Gly
XM_017010609.1:c.26467T>G (SYNE1)	XP_016866098.1:p.Cys8823Gly
XM_017010610.1:c.26446T>G (SYNE1)	XP_016866099.1:p.Cys8816Gly
XM_017010611.2:c.26440T>G (SYNE1)	XP_016866100.1:p.Cys8814Gly
XM_017010612.1:c.26389T>G (SYNE1)	XP_016866101.1:p.Cys8797Gly
XM_017010613.1:c.26353T>G (SYNE1)	XP_016866102.1:p.Cys8785Gly
XM_017010614.1:c.26311T>G (SYNE1)	XP_016866103.1:p.Cys8771Gly
XM_017010615.1:c.26200T>G (SYNE1)	XP_016866104.1:p.Cys8734Gly
XM_017010616.1:c.*131T>G (SYNE1)	XP_016866105.1:n.*131T>G
XM_017010617.1:c.*131T>G (SYNE1)	XP_016866106.1:n.*131T>G
XM_017010618.1:c.*131T>G (SYNE1)	XP_016866107.1:n.*131T>G
XM_017010619.1:c.24742T>G (SYNE1)	XP_016866108.1:p.Cys8248Gly
NM_182961.4:c.26320T>G (SYNE1) MANE Select	NP_892006.3:p.Cys8774Gly
NM_001328100.2:c.851-2756A>C (ESR1)	NP_001315029.1:n.851-2756A>C
NM_001347701.2:c.*131T>G (SYNE1)	NP_001334630.1:n.*131T>G
NM_001347702.2:c.2854T>G (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Cys952Gly
NM_033071.5:c.26176T>G (SYNE1)	NP_149062.2:p.Cys8726Gly