Canonical Allele Identifier: CA366088450

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443594T>C (hg19) ; chr6:g.152122459T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122459T>C , CM000668.2:g.152122459T>C	GRCh38
NC_000006.11:g.152443594T>C , CM000668.1:g.152443594T>C	GRCh37
NC_000006.10:g.152485287T>C	NCBI36
NG_012855.1:g.519941A>G
NG_008493.2:g.470769T>C
NG_012855.2:g.519941A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2905A>G (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Thr969Ala
ENST00000367255.10:c.26371A>G (SYNE1) MANE Select	ENSP00000356224.5:p.Thr8791Ala
ENST00000423061.6:c.26227A>G (SYNE1)	ENSP00000396024.1:p.Thr8743Ala
ENST00000672154.1:c.1714A>G (SYNE1)
ENST00000672169.1:c.2089A>G (SYNE1)
ENST00000673173.1:c.1956A>G (SYNE1)
ENST00000673451.1:c.2221A>G (SYNE1)	ENSP00000500189.1:n.2221A>G
ENST00000341594.9:c.25156A>G (SYNE1)	ENSP00000341887.6:p.Thr8386Ala
ENST00000347037.9:n.3119A>G (SYNE1)
ENST00000354674.4:c.2905A>G (SYNE1)	ENSP00000346701.4:p.Thr969Ala
ENST00000367251.7:c.5147A>G (SYNE1)	ENSP00000356220.3:n.5147A>G
ENST00000367255.9:c.26371A>G (SYNE1)	ENSP00000356224.5:p.Thr8791Ala
ENST00000367256.9:n.10063A>G (SYNE1)
ENST00000367257.8:c.4250A>G (SYNE1)	ENSP00000356226.4:n.4250A>G
ENST00000409694.6:n.9955A>G (SYNE1)
ENST00000423061.5:c.26227A>G (SYNE1)	ENSP00000396024.1:p.Thr8743Ala
ENST00000427531.6:c.851-2807T>C (ESR1)	ENSP00000394721.2:n.851-2807T>C
ENST00000460912.6:n.2985A>G (SYNE1)
ENST00000478916.5:n.7008A>G (SYNE1)
ENST00000539504.5:c.2836A>G (SYNE1)	ENSP00000441052.1:p.Thr946Ala
NM_033071.3:c.26227A>G (SYNE1)	NP_149062.1:p.Thr8743Ala
NM_182961.3:c.26371A>G (SYNE1)	NP_892006.3:p.Thr8791Ala
XM_006715407.1:c.26518A>G (SYNE1)	XP_006715470.1:p.Thr8840Ala
XM_006715408.1:c.26506A>G (SYNE1)	XP_006715471.1:p.Thr8836Ala
XM_006715409.1:c.26497A>G (SYNE1)	XP_006715472.1:p.Thr8833Ala
XM_006715410.1:c.26476A>G (SYNE1)	XP_006715473.1:p.Thr8826Ala
XM_006715411.1:c.26467A>G (SYNE1)	XP_006715474.1:p.Thr8823Ala
XM_006715412.1:c.26461A>G (SYNE1)	XP_006715475.1:p.Thr8821Ala
XM_006715413.1:c.26449A>G (SYNE1)	XP_006715476.1:p.Thr8817Ala
XM_006715414.1:c.26446A>G (SYNE1)	XP_006715477.1:p.Thr8816Ala
XM_006715415.1:c.26407A>G (SYNE1)	XP_006715478.1:p.Thr8803Ala
XM_006715416.1:c.26392A>G (SYNE1)	XP_006715479.1:p.Thr8798Ala
XM_006715417.1:c.26377A>G (SYNE1)	XP_006715480.1:p.Thr8793Ala
XM_006715420.1:c.26365A>G (SYNE1)	XP_006715483.1:p.Thr8789Ala
XM_006715421.1:c.26362A>G (SYNE1)	XP_006715484.1:p.Thr8788Ala
XM_006715422.1:c.26359A>G (SYNE1)	XP_006715485.1:p.Thr8787Ala
XM_006715423.1:c.*182A>G (SYNE1)	XP_006715486.1:n.*182A>G
XM_006715424.1:c.*182A>G (SYNE1)	XP_006715487.1:n.*182A>G
XM_006715425.1:c.*182A>G (SYNE1)	XP_006715488.1:n.*182A>G
XM_011535641.1:c.26515A>G (SYNE1)	XP_011533943.1:p.Thr8839Ala
XM_011535642.1:c.26503A>G (SYNE1)	XP_011533944.1:p.Thr8835Ala
XM_011535643.1:c.26353A>G (SYNE1)	XP_011533945.1:p.Thr8785Ala
XM_011535644.1:c.24793A>G (SYNE1)	XP_011533946.1:p.Thr8265Ala
XM_011535645.1:c.24286A>G (SYNE1)	XP_011533947.1:p.Thr8096Ala
XM_011535647.1:c.19753A>G (SYNE1)	XP_011533949.1:p.Thr6585Ala
NM_001328100.1:c.851-2807T>C (ESR1)	NP_001315029.1:n.851-2807T>C
NM_001347701.1:c.*182A>G (SYNE1)	NP_001334630.1:n.*182A>G
NM_001347702.1:c.2905A>G (SYNE1)	NP_001334631.1:p.Thr969Ala
XM_006715408.2:c.26506A>G (SYNE1)	XP_006715471.1:p.Thr8836Ala
XM_006715410.2:c.26476A>G (SYNE1)	XP_006715473.1:p.Thr8826Ala
XM_006715412.2:c.26461A>G (SYNE1)	XP_006715475.1:p.Thr8821Ala
XM_006715413.2:c.26449A>G (SYNE1)	XP_006715476.1:p.Thr8817Ala
XM_006715415.2:c.26407A>G (SYNE1)	XP_006715478.1:p.Thr8803Ala
XM_006715416.2:c.26392A>G (SYNE1)	XP_006715479.1:p.Thr8798Ala
XM_006715417.2:c.26377A>G (SYNE1)	XP_006715480.1:p.Thr8793Ala
XM_006715420.2:c.26365A>G (SYNE1)	XP_006715483.1:p.Thr8789Ala
XM_006715421.2:c.26362A>G (SYNE1)	XP_006715484.1:p.Thr8788Ala
XM_006715423.2:c.*182A>G (SYNE1)	XP_006715486.1:n.*182A>G
XM_006715424.2:c.*182A>G (SYNE1)	XP_006715487.1:n.*182A>G
XM_006715425.2:c.*182A>G (SYNE1)	XP_006715488.1:n.*182A>G
XM_011535641.2:c.26515A>G (SYNE1)	XP_011533943.1:p.Thr8839Ala
XM_011535642.2:c.26503A>G (SYNE1)	XP_011533944.1:p.Thr8835Ala
XM_011535645.2:c.24286A>G (SYNE1)	XP_011533947.1:p.Thr8096Ala
XM_017010608.1:c.26518A>G (SYNE1)	XP_016866097.1:p.Thr8840Ala
XM_017010609.1:c.26518A>G (SYNE1)	XP_016866098.1:p.Thr8840Ala
XM_017010610.1:c.26497A>G (SYNE1)	XP_016866099.1:p.Thr8833Ala
XM_017010611.2:c.26491A>G (SYNE1)	XP_016866100.1:p.Thr8831Ala
XM_017010612.1:c.26440A>G (SYNE1)	XP_016866101.1:p.Thr8814Ala
XM_017010613.1:c.26404A>G (SYNE1)	XP_016866102.1:p.Thr8802Ala
XM_017010614.1:c.26362A>G (SYNE1)	XP_016866103.1:p.Thr8788Ala
XM_017010615.1:c.26251A>G (SYNE1)	XP_016866104.1:p.Thr8751Ala
XM_017010616.1:c.*182A>G (SYNE1)	XP_016866105.1:n.*182A>G
XM_017010617.1:c.*182A>G (SYNE1)	XP_016866106.1:n.*182A>G
XM_017010618.1:c.*182A>G (SYNE1)	XP_016866107.1:n.*182A>G
XM_017010619.1:c.24793A>G (SYNE1)	XP_016866108.1:p.Thr8265Ala
NM_182961.4:c.26371A>G (SYNE1) MANE Select	NP_892006.3:p.Thr8791Ala
NM_001328100.2:c.851-2807T>C (ESR1)	NP_001315029.1:n.851-2807T>C
NM_001347701.2:c.*182A>G (SYNE1)	NP_001334630.1:n.*182A>G
NM_001347702.2:c.2905A>G (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Thr969Ala
NM_033071.5:c.26227A>G (SYNE1)	NP_149062.2:p.Thr8743Ala