Canonical Allele Identifier: CA366088909

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443701A>T (hg19) ; chr6:g.152122566A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122566A>T , CM000668.2:g.152122566A>T	GRCh38
NC_000006.11:g.152443701A>T , CM000668.1:g.152443701A>T	GRCh37
NC_000006.10:g.152485394A>T	NCBI36
NG_012855.1:g.519834T>A
NG_008493.2:g.470876A>T
NG_012855.2:g.519834T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2798T>A (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Leu933Gln
ENST00000367255.10:c.26264T>A (SYNE1) MANE Select	ENSP00000356224.5:p.Leu8755Gln
ENST00000423061.6:c.26120T>A (SYNE1)	ENSP00000396024.1:p.Leu8707Gln
ENST00000672154.1:c.1607T>A (SYNE1)
ENST00000672169.1:c.1982T>A (SYNE1)
ENST00000673173.1:c.1849T>A (SYNE1)
ENST00000673451.1:c.2114T>A (SYNE1)	ENSP00000500189.1:n.2114T>A
ENST00000341594.9:c.25049T>A (SYNE1)	ENSP00000341887.6:p.Leu8350Gln
ENST00000347037.9:n.3012T>A (SYNE1)
ENST00000354674.4:c.2798T>A (SYNE1)	ENSP00000346701.4:p.Leu933Gln
ENST00000367251.7:c.5040T>A (SYNE1)	ENSP00000356220.3:n.5040T>A
ENST00000367255.9:c.26264T>A (SYNE1)	ENSP00000356224.5:p.Leu8755Gln
ENST00000367256.9:n.9956T>A (SYNE1)
ENST00000367257.8:c.4143T>A (SYNE1)	ENSP00000356226.4:n.4143T>A
ENST00000409694.6:n.9848T>A (SYNE1)
ENST00000423061.5:c.26120T>A (SYNE1)	ENSP00000396024.1:p.Leu8707Gln
ENST00000427531.6:c.851-2700A>T (ESR1)	ENSP00000394721.2:n.851-2700A>T
ENST00000460912.6:n.2878T>A (SYNE1)
ENST00000478916.5:n.6901T>A (SYNE1)
ENST00000539504.5:c.2729T>A (SYNE1)	ENSP00000441052.1:p.Leu910Gln
NM_033071.3:c.26120T>A (SYNE1)	NP_149062.1:p.Leu8707Gln
NM_182961.3:c.26264T>A (SYNE1)	NP_892006.3:p.Leu8755Gln
XM_006715407.1:c.26411T>A (SYNE1)	XP_006715470.1:p.Leu8804Gln
XM_006715408.1:c.26399T>A (SYNE1)	XP_006715471.1:p.Leu8800Gln
XM_006715409.1:c.26390T>A (SYNE1)	XP_006715472.1:p.Leu8797Gln
XM_006715410.1:c.26369T>A (SYNE1)	XP_006715473.1:p.Leu8790Gln
XM_006715411.1:c.26360T>A (SYNE1)	XP_006715474.1:p.Leu8787Gln
XM_006715412.1:c.26354T>A (SYNE1)	XP_006715475.1:p.Leu8785Gln
XM_006715413.1:c.26342T>A (SYNE1)	XP_006715476.1:p.Leu8781Gln
XM_006715414.1:c.26339T>A (SYNE1)	XP_006715477.1:p.Leu8780Gln
XM_006715415.1:c.26300T>A (SYNE1)	XP_006715478.1:p.Leu8767Gln
XM_006715416.1:c.26285T>A (SYNE1)	XP_006715479.1:p.Leu8762Gln
XM_006715417.1:c.26270T>A (SYNE1)	XP_006715480.1:p.Leu8757Gln
XM_006715420.1:c.26258T>A (SYNE1)	XP_006715483.1:p.Leu8753Gln
XM_006715421.1:c.26255T>A (SYNE1)	XP_006715484.1:p.Leu8752Gln
XM_006715422.1:c.26252T>A (SYNE1)	XP_006715485.1:p.Leu8751Gln
XM_006715423.1:c.*75T>A (SYNE1)	XP_006715486.1:n.*75T>A
XM_006715424.1:c.*75T>A (SYNE1)	XP_006715487.1:n.*75T>A
XM_006715425.1:c.*75T>A (SYNE1)	XP_006715488.1:n.*75T>A
XM_011535641.1:c.26408T>A (SYNE1)	XP_011533943.1:p.Leu8803Gln
XM_011535642.1:c.26396T>A (SYNE1)	XP_011533944.1:p.Leu8799Gln
XM_011535643.1:c.26246T>A (SYNE1)	XP_011533945.1:p.Leu8749Gln
XM_011535644.1:c.24686T>A (SYNE1)	XP_011533946.1:p.Leu8229Gln
XM_011535645.1:c.24179T>A (SYNE1)	XP_011533947.1:p.Leu8060Gln
XM_011535647.1:c.19646T>A (SYNE1)	XP_011533949.1:p.Leu6549Gln
NM_001328100.1:c.851-2700A>T (ESR1)	NP_001315029.1:n.851-2700A>T
NM_001347701.1:c.*75T>A (SYNE1)	NP_001334630.1:n.*75T>A
NM_001347702.1:c.2798T>A (SYNE1)	NP_001334631.1:p.Leu933Gln
XM_006715408.2:c.26399T>A (SYNE1)	XP_006715471.1:p.Leu8800Gln
XM_006715410.2:c.26369T>A (SYNE1)	XP_006715473.1:p.Leu8790Gln
XM_006715412.2:c.26354T>A (SYNE1)	XP_006715475.1:p.Leu8785Gln
XM_006715413.2:c.26342T>A (SYNE1)	XP_006715476.1:p.Leu8781Gln
XM_006715415.2:c.26300T>A (SYNE1)	XP_006715478.1:p.Leu8767Gln
XM_006715416.2:c.26285T>A (SYNE1)	XP_006715479.1:p.Leu8762Gln
XM_006715417.2:c.26270T>A (SYNE1)	XP_006715480.1:p.Leu8757Gln
XM_006715420.2:c.26258T>A (SYNE1)	XP_006715483.1:p.Leu8753Gln
XM_006715421.2:c.26255T>A (SYNE1)	XP_006715484.1:p.Leu8752Gln
XM_006715423.2:c.*75T>A (SYNE1)	XP_006715486.1:n.*75T>A
XM_006715424.2:c.*75T>A (SYNE1)	XP_006715487.1:n.*75T>A
XM_006715425.2:c.*75T>A (SYNE1)	XP_006715488.1:n.*75T>A
XM_011535641.2:c.26408T>A (SYNE1)	XP_011533943.1:p.Leu8803Gln
XM_011535642.2:c.26396T>A (SYNE1)	XP_011533944.1:p.Leu8799Gln
XM_011535645.2:c.24179T>A (SYNE1)	XP_011533947.1:p.Leu8060Gln
XM_017010608.1:c.26411T>A (SYNE1)	XP_016866097.1:p.Leu8804Gln
XM_017010609.1:c.26411T>A (SYNE1)	XP_016866098.1:p.Leu8804Gln
XM_017010610.1:c.26390T>A (SYNE1)	XP_016866099.1:p.Leu8797Gln
XM_017010611.2:c.26384T>A (SYNE1)	XP_016866100.1:p.Leu8795Gln
XM_017010612.1:c.26333T>A (SYNE1)	XP_016866101.1:p.Leu8778Gln
XM_017010613.1:c.26297T>A (SYNE1)	XP_016866102.1:p.Leu8766Gln
XM_017010614.1:c.26255T>A (SYNE1)	XP_016866103.1:p.Leu8752Gln
XM_017010615.1:c.26144T>A (SYNE1)	XP_016866104.1:p.Leu8715Gln
XM_017010616.1:c.*75T>A (SYNE1)	XP_016866105.1:n.*75T>A
XM_017010617.1:c.*75T>A (SYNE1)	XP_016866106.1:n.*75T>A
XM_017010618.1:c.*75T>A (SYNE1)	XP_016866107.1:n.*75T>A
XM_017010619.1:c.24686T>A (SYNE1)	XP_016866108.1:p.Leu8229Gln
NM_182961.4:c.26264T>A (SYNE1) MANE Select	NP_892006.3:p.Leu8755Gln
NM_001328100.2:c.851-2700A>T (ESR1)	NP_001315029.1:n.851-2700A>T
NM_001347701.2:c.*75T>A (SYNE1)	NP_001334630.1:n.*75T>A
NM_001347702.2:c.2798T>A (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Leu933Gln
NM_033071.5:c.26120T>A (SYNE1)	NP_149062.2:p.Leu8707Gln