Canonical Allele Identifier: CA366088560

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443615A>T (hg19) ; chr6:g.152122480A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122480A>T , CM000668.2:g.152122480A>T	GRCh38
NC_000006.11:g.152443615A>T , CM000668.1:g.152443615A>T	GRCh37
NC_000006.10:g.152485308A>T	NCBI36
NG_012855.1:g.519920T>A
NG_008493.2:g.470790A>T
NG_012855.2:g.519920T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2884T>A (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Phe962Ile
ENST00000367255.10:c.26350T>A (SYNE1) MANE Select	ENSP00000356224.5:p.Phe8784Ile
ENST00000423061.6:c.26206T>A (SYNE1)	ENSP00000396024.1:p.Phe8736Ile
ENST00000672154.1:c.1693T>A (SYNE1)
ENST00000672169.1:c.2068T>A (SYNE1)
ENST00000673173.1:c.1935T>A (SYNE1)
ENST00000673451.1:c.2200T>A (SYNE1)	ENSP00000500189.1:n.2200T>A
ENST00000341594.9:c.25135T>A (SYNE1)	ENSP00000341887.6:p.Phe8379Ile
ENST00000347037.9:n.3098T>A (SYNE1)
ENST00000354674.4:c.2884T>A (SYNE1)	ENSP00000346701.4:p.Phe962Ile
ENST00000367251.7:c.5126T>A (SYNE1)	ENSP00000356220.3:n.5126T>A
ENST00000367255.9:c.26350T>A (SYNE1)	ENSP00000356224.5:p.Phe8784Ile
ENST00000367256.9:n.10042T>A (SYNE1)
ENST00000367257.8:c.4229T>A (SYNE1)	ENSP00000356226.4:n.4229T>A
ENST00000409694.6:n.9934T>A (SYNE1)
ENST00000423061.5:c.26206T>A (SYNE1)	ENSP00000396024.1:p.Phe8736Ile
ENST00000427531.6:c.851-2786A>T (ESR1)	ENSP00000394721.2:n.851-2786A>T
ENST00000460912.6:n.2964T>A (SYNE1)
ENST00000478916.5:n.6987T>A (SYNE1)
ENST00000539504.5:c.2815T>A (SYNE1)	ENSP00000441052.1:p.Phe939Ile
NM_033071.3:c.26206T>A (SYNE1)	NP_149062.1:p.Phe8736Ile
NM_182961.3:c.26350T>A (SYNE1)	NP_892006.3:p.Phe8784Ile
XM_006715407.1:c.26497T>A (SYNE1)	XP_006715470.1:p.Phe8833Ile
XM_006715408.1:c.26485T>A (SYNE1)	XP_006715471.1:p.Phe8829Ile
XM_006715409.1:c.26476T>A (SYNE1)	XP_006715472.1:p.Phe8826Ile
XM_006715410.1:c.26455T>A (SYNE1)	XP_006715473.1:p.Phe8819Ile
XM_006715411.1:c.26446T>A (SYNE1)	XP_006715474.1:p.Phe8816Ile
XM_006715412.1:c.26440T>A (SYNE1)	XP_006715475.1:p.Phe8814Ile
XM_006715413.1:c.26428T>A (SYNE1)	XP_006715476.1:p.Phe8810Ile
XM_006715414.1:c.26425T>A (SYNE1)	XP_006715477.1:p.Phe8809Ile
XM_006715415.1:c.26386T>A (SYNE1)	XP_006715478.1:p.Phe8796Ile
XM_006715416.1:c.26371T>A (SYNE1)	XP_006715479.1:p.Phe8791Ile
XM_006715417.1:c.26356T>A (SYNE1)	XP_006715480.1:p.Phe8786Ile
XM_006715420.1:c.26344T>A (SYNE1)	XP_006715483.1:p.Phe8782Ile
XM_006715421.1:c.26341T>A (SYNE1)	XP_006715484.1:p.Phe8781Ile
XM_006715422.1:c.26338T>A (SYNE1)	XP_006715485.1:p.Phe8780Ile
XM_006715423.1:c.*161T>A (SYNE1)	XP_006715486.1:n.*161T>A
XM_006715424.1:c.*161T>A (SYNE1)	XP_006715487.1:n.*161T>A
XM_006715425.1:c.*161T>A (SYNE1)	XP_006715488.1:n.*161T>A
XM_011535641.1:c.26494T>A (SYNE1)	XP_011533943.1:p.Phe8832Ile
XM_011535642.1:c.26482T>A (SYNE1)	XP_011533944.1:p.Phe8828Ile
XM_011535643.1:c.26332T>A (SYNE1)	XP_011533945.1:p.Phe8778Ile
XM_011535644.1:c.24772T>A (SYNE1)	XP_011533946.1:p.Phe8258Ile
XM_011535645.1:c.24265T>A (SYNE1)	XP_011533947.1:p.Phe8089Ile
XM_011535647.1:c.19732T>A (SYNE1)	XP_011533949.1:p.Phe6578Ile
NM_001328100.1:c.851-2786A>T (ESR1)	NP_001315029.1:n.851-2786A>T
NM_001347701.1:c.*161T>A (SYNE1)	NP_001334630.1:n.*161T>A
NM_001347702.1:c.2884T>A (SYNE1)	NP_001334631.1:p.Phe962Ile
XM_006715408.2:c.26485T>A (SYNE1)	XP_006715471.1:p.Phe8829Ile
XM_006715410.2:c.26455T>A (SYNE1)	XP_006715473.1:p.Phe8819Ile
XM_006715412.2:c.26440T>A (SYNE1)	XP_006715475.1:p.Phe8814Ile
XM_006715413.2:c.26428T>A (SYNE1)	XP_006715476.1:p.Phe8810Ile
XM_006715415.2:c.26386T>A (SYNE1)	XP_006715478.1:p.Phe8796Ile
XM_006715416.2:c.26371T>A (SYNE1)	XP_006715479.1:p.Phe8791Ile
XM_006715417.2:c.26356T>A (SYNE1)	XP_006715480.1:p.Phe8786Ile
XM_006715420.2:c.26344T>A (SYNE1)	XP_006715483.1:p.Phe8782Ile
XM_006715421.2:c.26341T>A (SYNE1)	XP_006715484.1:p.Phe8781Ile
XM_006715423.2:c.*161T>A (SYNE1)	XP_006715486.1:n.*161T>A
XM_006715424.2:c.*161T>A (SYNE1)	XP_006715487.1:n.*161T>A
XM_006715425.2:c.*161T>A (SYNE1)	XP_006715488.1:n.*161T>A
XM_011535641.2:c.26494T>A (SYNE1)	XP_011533943.1:p.Phe8832Ile
XM_011535642.2:c.26482T>A (SYNE1)	XP_011533944.1:p.Phe8828Ile
XM_011535645.2:c.24265T>A (SYNE1)	XP_011533947.1:p.Phe8089Ile
XM_017010608.1:c.26497T>A (SYNE1)	XP_016866097.1:p.Phe8833Ile
XM_017010609.1:c.26497T>A (SYNE1)	XP_016866098.1:p.Phe8833Ile
XM_017010610.1:c.26476T>A (SYNE1)	XP_016866099.1:p.Phe8826Ile
XM_017010611.2:c.26470T>A (SYNE1)	XP_016866100.1:p.Phe8824Ile
XM_017010612.1:c.26419T>A (SYNE1)	XP_016866101.1:p.Phe8807Ile
XM_017010613.1:c.26383T>A (SYNE1)	XP_016866102.1:p.Phe8795Ile
XM_017010614.1:c.26341T>A (SYNE1)	XP_016866103.1:p.Phe8781Ile
XM_017010615.1:c.26230T>A (SYNE1)	XP_016866104.1:p.Phe8744Ile
XM_017010616.1:c.*161T>A (SYNE1)	XP_016866105.1:n.*161T>A
XM_017010617.1:c.*161T>A (SYNE1)	XP_016866106.1:n.*161T>A
XM_017010618.1:c.*161T>A (SYNE1)	XP_016866107.1:n.*161T>A
XM_017010619.1:c.24772T>A (SYNE1)	XP_016866108.1:p.Phe8258Ile
NM_182961.4:c.26350T>A (SYNE1) MANE Select	NP_892006.3:p.Phe8784Ile
NM_001328100.2:c.851-2786A>T (ESR1)	NP_001315029.1:n.851-2786A>T
NM_001347701.2:c.*161T>A (SYNE1)	NP_001334630.1:n.*161T>A
NM_001347702.2:c.2884T>A (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Phe962Ile
NM_033071.5:c.26206T>A (SYNE1)	NP_149062.2:p.Phe8736Ile