Canonical Allele Identifier: CA366088629

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443632T>C (hg19) ; chr6:g.152122497T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122497T>C , CM000668.2:g.152122497T>C	GRCh38
NC_000006.11:g.152443632T>C , CM000668.1:g.152443632T>C	GRCh37
NC_000006.10:g.152485325T>C	NCBI36
NG_012855.1:g.519903A>G
NG_008493.2:g.470807T>C
NG_012855.2:g.519903A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2867A>G (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Asn956Ser
ENST00000367255.10:c.26333A>G (SYNE1) MANE Select	ENSP00000356224.5:p.Asn8778Ser
ENST00000423061.6:c.26189A>G (SYNE1)	ENSP00000396024.1:p.Asn8730Ser
ENST00000672154.1:c.1676A>G (SYNE1)
ENST00000672169.1:c.2051A>G (SYNE1)
ENST00000673173.1:c.1918A>G (SYNE1)
ENST00000673451.1:c.2183A>G (SYNE1)	ENSP00000500189.1:n.2183A>G
ENST00000341594.9:c.25118A>G (SYNE1)	ENSP00000341887.6:p.Asn8373Ser
ENST00000347037.9:n.3081A>G (SYNE1)
ENST00000354674.4:c.2867A>G (SYNE1)	ENSP00000346701.4:p.Asn956Ser
ENST00000367251.7:c.5109A>G (SYNE1)	ENSP00000356220.3:n.5109A>G
ENST00000367255.9:c.26333A>G (SYNE1)	ENSP00000356224.5:p.Asn8778Ser
ENST00000367256.9:n.10025A>G (SYNE1)
ENST00000367257.8:c.4212A>G (SYNE1)	ENSP00000356226.4:n.4212A>G
ENST00000409694.6:n.9917A>G (SYNE1)
ENST00000423061.5:c.26189A>G (SYNE1)	ENSP00000396024.1:p.Asn8730Ser
ENST00000427531.6:c.851-2769T>C (ESR1)	ENSP00000394721.2:n.851-2769T>C
ENST00000460912.6:n.2947A>G (SYNE1)
ENST00000478916.5:n.6970A>G (SYNE1)
ENST00000539504.5:c.2798A>G (SYNE1)	ENSP00000441052.1:p.Asn933Ser
NM_033071.3:c.26189A>G (SYNE1)	NP_149062.1:p.Asn8730Ser
NM_182961.3:c.26333A>G (SYNE1)	NP_892006.3:p.Asn8778Ser
XM_006715407.1:c.26480A>G (SYNE1)	XP_006715470.1:p.Asn8827Ser
XM_006715408.1:c.26468A>G (SYNE1)	XP_006715471.1:p.Asn8823Ser
XM_006715409.1:c.26459A>G (SYNE1)	XP_006715472.1:p.Asn8820Ser
XM_006715410.1:c.26438A>G (SYNE1)	XP_006715473.1:p.Asn8813Ser
XM_006715411.1:c.26429A>G (SYNE1)	XP_006715474.1:p.Asn8810Ser
XM_006715412.1:c.26423A>G (SYNE1)	XP_006715475.1:p.Asn8808Ser
XM_006715413.1:c.26411A>G (SYNE1)	XP_006715476.1:p.Asn8804Ser
XM_006715414.1:c.26408A>G (SYNE1)	XP_006715477.1:p.Asn8803Ser
XM_006715415.1:c.26369A>G (SYNE1)	XP_006715478.1:p.Asn8790Ser
XM_006715416.1:c.26354A>G (SYNE1)	XP_006715479.1:p.Asn8785Ser
XM_006715417.1:c.26339A>G (SYNE1)	XP_006715480.1:p.Asn8780Ser
XM_006715420.1:c.26327A>G (SYNE1)	XP_006715483.1:p.Asn8776Ser
XM_006715421.1:c.26324A>G (SYNE1)	XP_006715484.1:p.Asn8775Ser
XM_006715422.1:c.26321A>G (SYNE1)	XP_006715485.1:p.Asn8774Ser
XM_006715423.1:c.*144A>G (SYNE1)	XP_006715486.1:n.*144A>G
XM_006715424.1:c.*144A>G (SYNE1)	XP_006715487.1:n.*144A>G
XM_006715425.1:c.*144A>G (SYNE1)	XP_006715488.1:n.*144A>G
XM_011535641.1:c.26477A>G (SYNE1)	XP_011533943.1:p.Asn8826Ser
XM_011535642.1:c.26465A>G (SYNE1)	XP_011533944.1:p.Asn8822Ser
XM_011535643.1:c.26315A>G (SYNE1)	XP_011533945.1:p.Asn8772Ser
XM_011535644.1:c.24755A>G (SYNE1)	XP_011533946.1:p.Asn8252Ser
XM_011535645.1:c.24248A>G (SYNE1)	XP_011533947.1:p.Asn8083Ser
XM_011535647.1:c.19715A>G (SYNE1)	XP_011533949.1:p.Asn6572Ser
NM_001328100.1:c.851-2769T>C (ESR1)	NP_001315029.1:n.851-2769T>C
NM_001347701.1:c.*144A>G (SYNE1)	NP_001334630.1:n.*144A>G
NM_001347702.1:c.2867A>G (SYNE1)	NP_001334631.1:p.Asn956Ser
XM_006715408.2:c.26468A>G (SYNE1)	XP_006715471.1:p.Asn8823Ser
XM_006715410.2:c.26438A>G (SYNE1)	XP_006715473.1:p.Asn8813Ser
XM_006715412.2:c.26423A>G (SYNE1)	XP_006715475.1:p.Asn8808Ser
XM_006715413.2:c.26411A>G (SYNE1)	XP_006715476.1:p.Asn8804Ser
XM_006715415.2:c.26369A>G (SYNE1)	XP_006715478.1:p.Asn8790Ser
XM_006715416.2:c.26354A>G (SYNE1)	XP_006715479.1:p.Asn8785Ser
XM_006715417.2:c.26339A>G (SYNE1)	XP_006715480.1:p.Asn8780Ser
XM_006715420.2:c.26327A>G (SYNE1)	XP_006715483.1:p.Asn8776Ser
XM_006715421.2:c.26324A>G (SYNE1)	XP_006715484.1:p.Asn8775Ser
XM_006715423.2:c.*144A>G (SYNE1)	XP_006715486.1:n.*144A>G
XM_006715424.2:c.*144A>G (SYNE1)	XP_006715487.1:n.*144A>G
XM_006715425.2:c.*144A>G (SYNE1)	XP_006715488.1:n.*144A>G
XM_011535641.2:c.26477A>G (SYNE1)	XP_011533943.1:p.Asn8826Ser
XM_011535642.2:c.26465A>G (SYNE1)	XP_011533944.1:p.Asn8822Ser
XM_011535645.2:c.24248A>G (SYNE1)	XP_011533947.1:p.Asn8083Ser
XM_017010608.1:c.26480A>G (SYNE1)	XP_016866097.1:p.Asn8827Ser
XM_017010609.1:c.26480A>G (SYNE1)	XP_016866098.1:p.Asn8827Ser
XM_017010610.1:c.26459A>G (SYNE1)	XP_016866099.1:p.Asn8820Ser
XM_017010611.2:c.26453A>G (SYNE1)	XP_016866100.1:p.Asn8818Ser
XM_017010612.1:c.26402A>G (SYNE1)	XP_016866101.1:p.Asn8801Ser
XM_017010613.1:c.26366A>G (SYNE1)	XP_016866102.1:p.Asn8789Ser
XM_017010614.1:c.26324A>G (SYNE1)	XP_016866103.1:p.Asn8775Ser
XM_017010615.1:c.26213A>G (SYNE1)	XP_016866104.1:p.Asn8738Ser
XM_017010616.1:c.*144A>G (SYNE1)	XP_016866105.1:n.*144A>G
XM_017010617.1:c.*144A>G (SYNE1)	XP_016866106.1:n.*144A>G
XM_017010618.1:c.*144A>G (SYNE1)	XP_016866107.1:n.*144A>G
XM_017010619.1:c.24755A>G (SYNE1)	XP_016866108.1:p.Asn8252Ser
NM_182961.4:c.26333A>G (SYNE1) MANE Select	NP_892006.3:p.Asn8778Ser
NM_001328100.2:c.851-2769T>C (ESR1)	NP_001315029.1:n.851-2769T>C
NM_001347701.2:c.*144A>G (SYNE1)	NP_001334630.1:n.*144A>G
NM_001347702.2:c.2867A>G (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Asn956Ser
NM_033071.5:c.26189A>G (SYNE1)	NP_149062.2:p.Asn8730Ser