Canonical Allele Identifier: CA366088860

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443689A>C (hg19) ; chr6:g.152122554A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122554A>C , CM000668.2:g.152122554A>C	GRCh38
NC_000006.11:g.152443689A>C , CM000668.1:g.152443689A>C	GRCh37
NC_000006.10:g.152485382A>C	NCBI36
NG_012855.1:g.519846T>G
NG_008493.2:g.470864A>C
NG_012855.2:g.519846T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2810T>G (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Ile937Ser
ENST00000367255.10:c.26276T>G (SYNE1) MANE Select	ENSP00000356224.5:p.Ile8759Ser
ENST00000423061.6:c.26132T>G (SYNE1)	ENSP00000396024.1:p.Ile8711Ser
ENST00000672154.1:c.1619T>G (SYNE1)
ENST00000672169.1:c.1994T>G (SYNE1)
ENST00000673173.1:c.1861T>G (SYNE1)
ENST00000673451.1:c.2126T>G (SYNE1)	ENSP00000500189.1:n.2126T>G
ENST00000341594.9:c.25061T>G (SYNE1)	ENSP00000341887.6:p.Ile8354Ser
ENST00000347037.9:n.3024T>G (SYNE1)
ENST00000354674.4:c.2810T>G (SYNE1)	ENSP00000346701.4:p.Ile937Ser
ENST00000367251.7:c.5052T>G (SYNE1)	ENSP00000356220.3:n.5052T>G
ENST00000367255.9:c.26276T>G (SYNE1)	ENSP00000356224.5:p.Ile8759Ser
ENST00000367256.9:n.9968T>G (SYNE1)
ENST00000367257.8:c.4155T>G (SYNE1)	ENSP00000356226.4:n.4155T>G
ENST00000409694.6:n.9860T>G (SYNE1)
ENST00000423061.5:c.26132T>G (SYNE1)	ENSP00000396024.1:p.Ile8711Ser
ENST00000427531.6:c.851-2712A>C (ESR1)	ENSP00000394721.2:n.851-2712A>C
ENST00000460912.6:n.2890T>G (SYNE1)
ENST00000478916.5:n.6913T>G (SYNE1)
ENST00000539504.5:c.2741T>G (SYNE1)	ENSP00000441052.1:p.Ile914Ser
NM_033071.3:c.26132T>G (SYNE1)	NP_149062.1:p.Ile8711Ser
NM_182961.3:c.26276T>G (SYNE1)	NP_892006.3:p.Ile8759Ser
XM_006715407.1:c.26423T>G (SYNE1)	XP_006715470.1:p.Ile8808Ser
XM_006715408.1:c.26411T>G (SYNE1)	XP_006715471.1:p.Ile8804Ser
XM_006715409.1:c.26402T>G (SYNE1)	XP_006715472.1:p.Ile8801Ser
XM_006715410.1:c.26381T>G (SYNE1)	XP_006715473.1:p.Ile8794Ser
XM_006715411.1:c.26372T>G (SYNE1)	XP_006715474.1:p.Ile8791Ser
XM_006715412.1:c.26366T>G (SYNE1)	XP_006715475.1:p.Ile8789Ser
XM_006715413.1:c.26354T>G (SYNE1)	XP_006715476.1:p.Ile8785Ser
XM_006715414.1:c.26351T>G (SYNE1)	XP_006715477.1:p.Ile8784Ser
XM_006715415.1:c.26312T>G (SYNE1)	XP_006715478.1:p.Ile8771Ser
XM_006715416.1:c.26297T>G (SYNE1)	XP_006715479.1:p.Ile8766Ser
XM_006715417.1:c.26282T>G (SYNE1)	XP_006715480.1:p.Ile8761Ser
XM_006715420.1:c.26270T>G (SYNE1)	XP_006715483.1:p.Ile8757Ser
XM_006715421.1:c.26267T>G (SYNE1)	XP_006715484.1:p.Ile8756Ser
XM_006715422.1:c.26264T>G (SYNE1)	XP_006715485.1:p.Ile8755Ser
XM_006715423.1:c.*87T>G (SYNE1)	XP_006715486.1:n.*87T>G
XM_006715424.1:c.*87T>G (SYNE1)	XP_006715487.1:n.*87T>G
XM_006715425.1:c.*87T>G (SYNE1)	XP_006715488.1:n.*87T>G
XM_011535641.1:c.26420T>G (SYNE1)	XP_011533943.1:p.Ile8807Ser
XM_011535642.1:c.26408T>G (SYNE1)	XP_011533944.1:p.Ile8803Ser
XM_011535643.1:c.26258T>G (SYNE1)	XP_011533945.1:p.Ile8753Ser
XM_011535644.1:c.24698T>G (SYNE1)	XP_011533946.1:p.Ile8233Ser
XM_011535645.1:c.24191T>G (SYNE1)	XP_011533947.1:p.Ile8064Ser
XM_011535647.1:c.19658T>G (SYNE1)	XP_011533949.1:p.Ile6553Ser
NM_001328100.1:c.851-2712A>C (ESR1)	NP_001315029.1:n.851-2712A>C
NM_001347701.1:c.*87T>G (SYNE1)	NP_001334630.1:n.*87T>G
NM_001347702.1:c.2810T>G (SYNE1)	NP_001334631.1:p.Ile937Ser
XM_006715408.2:c.26411T>G (SYNE1)	XP_006715471.1:p.Ile8804Ser
XM_006715410.2:c.26381T>G (SYNE1)	XP_006715473.1:p.Ile8794Ser
XM_006715412.2:c.26366T>G (SYNE1)	XP_006715475.1:p.Ile8789Ser
XM_006715413.2:c.26354T>G (SYNE1)	XP_006715476.1:p.Ile8785Ser
XM_006715415.2:c.26312T>G (SYNE1)	XP_006715478.1:p.Ile8771Ser
XM_006715416.2:c.26297T>G (SYNE1)	XP_006715479.1:p.Ile8766Ser
XM_006715417.2:c.26282T>G (SYNE1)	XP_006715480.1:p.Ile8761Ser
XM_006715420.2:c.26270T>G (SYNE1)	XP_006715483.1:p.Ile8757Ser
XM_006715421.2:c.26267T>G (SYNE1)	XP_006715484.1:p.Ile8756Ser
XM_006715423.2:c.*87T>G (SYNE1)	XP_006715486.1:n.*87T>G
XM_006715424.2:c.*87T>G (SYNE1)	XP_006715487.1:n.*87T>G
XM_006715425.2:c.*87T>G (SYNE1)	XP_006715488.1:n.*87T>G
XM_011535641.2:c.26420T>G (SYNE1)	XP_011533943.1:p.Ile8807Ser
XM_011535642.2:c.26408T>G (SYNE1)	XP_011533944.1:p.Ile8803Ser
XM_011535645.2:c.24191T>G (SYNE1)	XP_011533947.1:p.Ile8064Ser
XM_017010608.1:c.26423T>G (SYNE1)	XP_016866097.1:p.Ile8808Ser
XM_017010609.1:c.26423T>G (SYNE1)	XP_016866098.1:p.Ile8808Ser
XM_017010610.1:c.26402T>G (SYNE1)	XP_016866099.1:p.Ile8801Ser
XM_017010611.2:c.26396T>G (SYNE1)	XP_016866100.1:p.Ile8799Ser
XM_017010612.1:c.26345T>G (SYNE1)	XP_016866101.1:p.Ile8782Ser
XM_017010613.1:c.26309T>G (SYNE1)	XP_016866102.1:p.Ile8770Ser
XM_017010614.1:c.26267T>G (SYNE1)	XP_016866103.1:p.Ile8756Ser
XM_017010615.1:c.26156T>G (SYNE1)	XP_016866104.1:p.Ile8719Ser
XM_017010616.1:c.*87T>G (SYNE1)	XP_016866105.1:n.*87T>G
XM_017010617.1:c.*87T>G (SYNE1)	XP_016866106.1:n.*87T>G
XM_017010618.1:c.*87T>G (SYNE1)	XP_016866107.1:n.*87T>G
XM_017010619.1:c.24698T>G (SYNE1)	XP_016866108.1:p.Ile8233Ser
NM_182961.4:c.26276T>G (SYNE1) MANE Select	NP_892006.3:p.Ile8759Ser
NM_001328100.2:c.851-2712A>C (ESR1)	NP_001315029.1:n.851-2712A>C
NM_001347701.2:c.*87T>G (SYNE1)	NP_001334630.1:n.*87T>G
NM_001347702.2:c.2810T>G (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Ile937Ser
NM_033071.5:c.26132T>G (SYNE1)	NP_149062.2:p.Ile8711Ser