Canonical Allele Identifier: CA366088865

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443690T>A (hg19) ; chr6:g.152122555T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122555T>A , CM000668.2:g.152122555T>A	GRCh38
NC_000006.11:g.152443690T>A , CM000668.1:g.152443690T>A	GRCh37
NC_000006.10:g.152485383T>A	NCBI36
NG_012855.1:g.519845A>T
NG_008493.2:g.470865T>A
NG_012855.2:g.519845A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2809A>T (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Ile937Phe
ENST00000367255.10:c.26275A>T (SYNE1) MANE Select	ENSP00000356224.5:p.Ile8759Phe
ENST00000423061.6:c.26131A>T (SYNE1)	ENSP00000396024.1:p.Ile8711Phe
ENST00000672154.1:c.1618A>T (SYNE1)
ENST00000672169.1:c.1993A>T (SYNE1)
ENST00000673173.1:c.1860A>T (SYNE1)
ENST00000673451.1:c.2125A>T (SYNE1)	ENSP00000500189.1:n.2125A>T
ENST00000341594.9:c.25060A>T (SYNE1)	ENSP00000341887.6:p.Ile8354Phe
ENST00000347037.9:n.3023A>T (SYNE1)
ENST00000354674.4:c.2809A>T (SYNE1)	ENSP00000346701.4:p.Ile937Phe
ENST00000367251.7:c.5051A>T (SYNE1)	ENSP00000356220.3:n.5051A>T
ENST00000367255.9:c.26275A>T (SYNE1)	ENSP00000356224.5:p.Ile8759Phe
ENST00000367256.9:n.9967A>T (SYNE1)
ENST00000367257.8:c.4154A>T (SYNE1)	ENSP00000356226.4:n.4154A>T
ENST00000409694.6:n.9859A>T (SYNE1)
ENST00000423061.5:c.26131A>T (SYNE1)	ENSP00000396024.1:p.Ile8711Phe
ENST00000427531.6:c.851-2711T>A (ESR1)	ENSP00000394721.2:n.851-2711T>A
ENST00000460912.6:n.2889A>T (SYNE1)
ENST00000478916.5:n.6912A>T (SYNE1)
ENST00000539504.5:c.2740A>T (SYNE1)	ENSP00000441052.1:p.Ile914Phe
NM_033071.3:c.26131A>T (SYNE1)	NP_149062.1:p.Ile8711Phe
NM_182961.3:c.26275A>T (SYNE1)	NP_892006.3:p.Ile8759Phe
XM_006715407.1:c.26422A>T (SYNE1)	XP_006715470.1:p.Ile8808Phe
XM_006715408.1:c.26410A>T (SYNE1)	XP_006715471.1:p.Ile8804Phe
XM_006715409.1:c.26401A>T (SYNE1)	XP_006715472.1:p.Ile8801Phe
XM_006715410.1:c.26380A>T (SYNE1)	XP_006715473.1:p.Ile8794Phe
XM_006715411.1:c.26371A>T (SYNE1)	XP_006715474.1:p.Ile8791Phe
XM_006715412.1:c.26365A>T (SYNE1)	XP_006715475.1:p.Ile8789Phe
XM_006715413.1:c.26353A>T (SYNE1)	XP_006715476.1:p.Ile8785Phe
XM_006715414.1:c.26350A>T (SYNE1)	XP_006715477.1:p.Ile8784Phe
XM_006715415.1:c.26311A>T (SYNE1)	XP_006715478.1:p.Ile8771Phe
XM_006715416.1:c.26296A>T (SYNE1)	XP_006715479.1:p.Ile8766Phe
XM_006715417.1:c.26281A>T (SYNE1)	XP_006715480.1:p.Ile8761Phe
XM_006715420.1:c.26269A>T (SYNE1)	XP_006715483.1:p.Ile8757Phe
XM_006715421.1:c.26266A>T (SYNE1)	XP_006715484.1:p.Ile8756Phe
XM_006715422.1:c.26263A>T (SYNE1)	XP_006715485.1:p.Ile8755Phe
XM_006715423.1:c.*86A>T (SYNE1)	XP_006715486.1:n.*86A>T
XM_006715424.1:c.*86A>T (SYNE1)	XP_006715487.1:n.*86A>T
XM_006715425.1:c.*86A>T (SYNE1)	XP_006715488.1:n.*86A>T
XM_011535641.1:c.26419A>T (SYNE1)	XP_011533943.1:p.Ile8807Phe
XM_011535642.1:c.26407A>T (SYNE1)	XP_011533944.1:p.Ile8803Phe
XM_011535643.1:c.26257A>T (SYNE1)	XP_011533945.1:p.Ile8753Phe
XM_011535644.1:c.24697A>T (SYNE1)	XP_011533946.1:p.Ile8233Phe
XM_011535645.1:c.24190A>T (SYNE1)	XP_011533947.1:p.Ile8064Phe
XM_011535647.1:c.19657A>T (SYNE1)	XP_011533949.1:p.Ile6553Phe
NM_001328100.1:c.851-2711T>A (ESR1)	NP_001315029.1:n.851-2711T>A
NM_001347701.1:c.*86A>T (SYNE1)	NP_001334630.1:n.*86A>T
NM_001347702.1:c.2809A>T (SYNE1)	NP_001334631.1:p.Ile937Phe
XM_006715408.2:c.26410A>T (SYNE1)	XP_006715471.1:p.Ile8804Phe
XM_006715410.2:c.26380A>T (SYNE1)	XP_006715473.1:p.Ile8794Phe
XM_006715412.2:c.26365A>T (SYNE1)	XP_006715475.1:p.Ile8789Phe
XM_006715413.2:c.26353A>T (SYNE1)	XP_006715476.1:p.Ile8785Phe
XM_006715415.2:c.26311A>T (SYNE1)	XP_006715478.1:p.Ile8771Phe
XM_006715416.2:c.26296A>T (SYNE1)	XP_006715479.1:p.Ile8766Phe
XM_006715417.2:c.26281A>T (SYNE1)	XP_006715480.1:p.Ile8761Phe
XM_006715420.2:c.26269A>T (SYNE1)	XP_006715483.1:p.Ile8757Phe
XM_006715421.2:c.26266A>T (SYNE1)	XP_006715484.1:p.Ile8756Phe
XM_006715423.2:c.*86A>T (SYNE1)	XP_006715486.1:n.*86A>T
XM_006715424.2:c.*86A>T (SYNE1)	XP_006715487.1:n.*86A>T
XM_006715425.2:c.*86A>T (SYNE1)	XP_006715488.1:n.*86A>T
XM_011535641.2:c.26419A>T (SYNE1)	XP_011533943.1:p.Ile8807Phe
XM_011535642.2:c.26407A>T (SYNE1)	XP_011533944.1:p.Ile8803Phe
XM_011535645.2:c.24190A>T (SYNE1)	XP_011533947.1:p.Ile8064Phe
XM_017010608.1:c.26422A>T (SYNE1)	XP_016866097.1:p.Ile8808Phe
XM_017010609.1:c.26422A>T (SYNE1)	XP_016866098.1:p.Ile8808Phe
XM_017010610.1:c.26401A>T (SYNE1)	XP_016866099.1:p.Ile8801Phe
XM_017010611.2:c.26395A>T (SYNE1)	XP_016866100.1:p.Ile8799Phe
XM_017010612.1:c.26344A>T (SYNE1)	XP_016866101.1:p.Ile8782Phe
XM_017010613.1:c.26308A>T (SYNE1)	XP_016866102.1:p.Ile8770Phe
XM_017010614.1:c.26266A>T (SYNE1)	XP_016866103.1:p.Ile8756Phe
XM_017010615.1:c.26155A>T (SYNE1)	XP_016866104.1:p.Ile8719Phe
XM_017010616.1:c.*86A>T (SYNE1)	XP_016866105.1:n.*86A>T
XM_017010617.1:c.*86A>T (SYNE1)	XP_016866106.1:n.*86A>T
XM_017010618.1:c.*86A>T (SYNE1)	XP_016866107.1:n.*86A>T
XM_017010619.1:c.24697A>T (SYNE1)	XP_016866108.1:p.Ile8233Phe
NM_182961.4:c.26275A>T (SYNE1) MANE Select	NP_892006.3:p.Ile8759Phe
NM_001328100.2:c.851-2711T>A (ESR1)	NP_001315029.1:n.851-2711T>A
NM_001347701.2:c.*86A>T (SYNE1)	NP_001334630.1:n.*86A>T
NM_001347702.2:c.2809A>T (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Ile937Phe
NM_033071.5:c.26131A>T (SYNE1)	NP_149062.2:p.Ile8711Phe