Canonical Allele Identifier: CA366088476

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443600T>A (hg19) ; chr6:g.152122465T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122465T>A , CM000668.2:g.152122465T>A	GRCh38
NC_000006.11:g.152443600T>A , CM000668.1:g.152443600T>A	GRCh37
NC_000006.10:g.152485293T>A	NCBI36
NG_012855.1:g.519935A>T
NG_008493.2:g.470775T>A
NG_012855.2:g.519935A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2899A>T (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Arg967Ter
ENST00000367255.10:c.26365A>T (SYNE1) MANE Select	ENSP00000356224.5:p.Arg8789Ter
ENST00000423061.6:c.26221A>T (SYNE1)	ENSP00000396024.1:p.Arg8741Ter
ENST00000672154.1:c.1708A>T (SYNE1)
ENST00000672169.1:c.2083A>T (SYNE1)
ENST00000673173.1:c.1950A>T (SYNE1)
ENST00000673451.1:c.2215A>T (SYNE1)	ENSP00000500189.1:n.2215A>T
ENST00000341594.9:c.25150A>T (SYNE1)	ENSP00000341887.6:p.Arg8384Ter
ENST00000347037.9:n.3113A>T (SYNE1)
ENST00000354674.4:c.2899A>T (SYNE1)	ENSP00000346701.4:p.Arg967Ter
ENST00000367251.7:c.5141A>T (SYNE1)	ENSP00000356220.3:n.5141A>T
ENST00000367255.9:c.26365A>T (SYNE1)	ENSP00000356224.5:p.Arg8789Ter
ENST00000367256.9:n.10057A>T (SYNE1)
ENST00000367257.8:c.4244A>T (SYNE1)	ENSP00000356226.4:n.4244A>T
ENST00000409694.6:n.9949A>T (SYNE1)
ENST00000423061.5:c.26221A>T (SYNE1)	ENSP00000396024.1:p.Arg8741Ter
ENST00000427531.6:c.851-2801T>A (ESR1)	ENSP00000394721.2:n.851-2801T>A
ENST00000460912.6:n.2979A>T (SYNE1)
ENST00000478916.5:n.7002A>T (SYNE1)
ENST00000539504.5:c.2830A>T (SYNE1)	ENSP00000441052.1:p.Arg944Ter
NM_033071.3:c.26221A>T (SYNE1)	NP_149062.1:p.Arg8741Ter
NM_182961.3:c.26365A>T (SYNE1)	NP_892006.3:p.Arg8789Ter
XM_006715407.1:c.26512A>T (SYNE1)	XP_006715470.1:p.Arg8838Ter
XM_006715408.1:c.26500A>T (SYNE1)	XP_006715471.1:p.Arg8834Ter
XM_006715409.1:c.26491A>T (SYNE1)	XP_006715472.1:p.Arg8831Ter
XM_006715410.1:c.26470A>T (SYNE1)	XP_006715473.1:p.Arg8824Ter
XM_006715411.1:c.26461A>T (SYNE1)	XP_006715474.1:p.Arg8821Ter
XM_006715412.1:c.26455A>T (SYNE1)	XP_006715475.1:p.Arg8819Ter
XM_006715413.1:c.26443A>T (SYNE1)	XP_006715476.1:p.Arg8815Ter
XM_006715414.1:c.26440A>T (SYNE1)	XP_006715477.1:p.Arg8814Ter
XM_006715415.1:c.26401A>T (SYNE1)	XP_006715478.1:p.Arg8801Ter
XM_006715416.1:c.26386A>T (SYNE1)	XP_006715479.1:p.Arg8796Ter
XM_006715417.1:c.26371A>T (SYNE1)	XP_006715480.1:p.Arg8791Ter
XM_006715420.1:c.26359A>T (SYNE1)	XP_006715483.1:p.Arg8787Ter
XM_006715421.1:c.26356A>T (SYNE1)	XP_006715484.1:p.Arg8786Ter
XM_006715422.1:c.26353A>T (SYNE1)	XP_006715485.1:p.Arg8785Ter
XM_006715423.1:c.*176A>T (SYNE1)	XP_006715486.1:n.*176A>T
XM_006715424.1:c.*176A>T (SYNE1)	XP_006715487.1:n.*176A>T
XM_006715425.1:c.*176A>T (SYNE1)	XP_006715488.1:n.*176A>T
XM_011535641.1:c.26509A>T (SYNE1)	XP_011533943.1:p.Arg8837Ter
XM_011535642.1:c.26497A>T (SYNE1)	XP_011533944.1:p.Arg8833Ter
XM_011535643.1:c.26347A>T (SYNE1)	XP_011533945.1:p.Arg8783Ter
XM_011535644.1:c.24787A>T (SYNE1)	XP_011533946.1:p.Arg8263Ter
XM_011535645.1:c.24280A>T (SYNE1)	XP_011533947.1:p.Arg8094Ter
XM_011535647.1:c.19747A>T (SYNE1)	XP_011533949.1:p.Arg6583Ter
NM_001328100.1:c.851-2801T>A (ESR1)	NP_001315029.1:n.851-2801T>A
NM_001347701.1:c.*176A>T (SYNE1)	NP_001334630.1:n.*176A>T
NM_001347702.1:c.2899A>T (SYNE1)	NP_001334631.1:p.Arg967Ter
XM_006715408.2:c.26500A>T (SYNE1)	XP_006715471.1:p.Arg8834Ter
XM_006715410.2:c.26470A>T (SYNE1)	XP_006715473.1:p.Arg8824Ter
XM_006715412.2:c.26455A>T (SYNE1)	XP_006715475.1:p.Arg8819Ter
XM_006715413.2:c.26443A>T (SYNE1)	XP_006715476.1:p.Arg8815Ter
XM_006715415.2:c.26401A>T (SYNE1)	XP_006715478.1:p.Arg8801Ter
XM_006715416.2:c.26386A>T (SYNE1)	XP_006715479.1:p.Arg8796Ter
XM_006715417.2:c.26371A>T (SYNE1)	XP_006715480.1:p.Arg8791Ter
XM_006715420.2:c.26359A>T (SYNE1)	XP_006715483.1:p.Arg8787Ter
XM_006715421.2:c.26356A>T (SYNE1)	XP_006715484.1:p.Arg8786Ter
XM_006715423.2:c.*176A>T (SYNE1)	XP_006715486.1:n.*176A>T
XM_006715424.2:c.*176A>T (SYNE1)	XP_006715487.1:n.*176A>T
XM_006715425.2:c.*176A>T (SYNE1)	XP_006715488.1:n.*176A>T
XM_011535641.2:c.26509A>T (SYNE1)	XP_011533943.1:p.Arg8837Ter
XM_011535642.2:c.26497A>T (SYNE1)	XP_011533944.1:p.Arg8833Ter
XM_011535645.2:c.24280A>T (SYNE1)	XP_011533947.1:p.Arg8094Ter
XM_017010608.1:c.26512A>T (SYNE1)	XP_016866097.1:p.Arg8838Ter
XM_017010609.1:c.26512A>T (SYNE1)	XP_016866098.1:p.Arg8838Ter
XM_017010610.1:c.26491A>T (SYNE1)	XP_016866099.1:p.Arg8831Ter
XM_017010611.2:c.26485A>T (SYNE1)	XP_016866100.1:p.Arg8829Ter
XM_017010612.1:c.26434A>T (SYNE1)	XP_016866101.1:p.Arg8812Ter
XM_017010613.1:c.26398A>T (SYNE1)	XP_016866102.1:p.Arg8800Ter
XM_017010614.1:c.26356A>T (SYNE1)	XP_016866103.1:p.Arg8786Ter
XM_017010615.1:c.26245A>T (SYNE1)	XP_016866104.1:p.Arg8749Ter
XM_017010616.1:c.*176A>T (SYNE1)	XP_016866105.1:n.*176A>T
XM_017010617.1:c.*176A>T (SYNE1)	XP_016866106.1:n.*176A>T
XM_017010618.1:c.*176A>T (SYNE1)	XP_016866107.1:n.*176A>T
XM_017010619.1:c.24787A>T (SYNE1)	XP_016866108.1:p.Arg8263Ter
NM_182961.4:c.26365A>T (SYNE1) MANE Select	NP_892006.3:p.Arg8789Ter
NM_001328100.2:c.851-2801T>A (ESR1)	NP_001315029.1:n.851-2801T>A
NM_001347701.2:c.*176A>T (SYNE1)	NP_001334630.1:n.*176A>T
NM_001347702.2:c.2899A>T (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Arg967Ter
NM_033071.5:c.26221A>T (SYNE1)	NP_149062.2:p.Arg8741Ter