Canonical Allele Identifier: CA366088462

Gene: SYNE1 ESR1

Linked Data

• dbSNP Id: rs1159638583
• gnomAD v2: 6-152443597-A-G
• gnomAD v4: 6-152122462-A-G
• MyVariant Identifiers: chr6:g.152443597A>G (hg19) ; chr6:g.152122462A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122462A>G , CM000668.2:g.152122462A>G	GRCh38
NC_000006.11:g.152443597A>G , CM000668.1:g.152443597A>G	GRCh37
NC_000006.10:g.152485290A>G	NCBI36
NG_012855.1:g.519938T>C
NG_008493.2:g.470772A>G
NG_012855.2:g.519938T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2902T>C (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Tyr968His
ENST00000367255.10:c.26368T>C (SYNE1) MANE Select	ENSP00000356224.5:p.Tyr8790His
ENST00000423061.6:c.26224T>C (SYNE1)	ENSP00000396024.1:p.Tyr8742His
ENST00000672154.1:c.1711T>C (SYNE1)
ENST00000672169.1:c.2086T>C (SYNE1)
ENST00000673173.1:c.1953T>C (SYNE1)
ENST00000673451.1:c.2218T>C (SYNE1)	ENSP00000500189.1:n.2218T>C
ENST00000341594.9:c.25153T>C (SYNE1)	ENSP00000341887.6:p.Tyr8385His
ENST00000347037.9:n.3116T>C (SYNE1)
ENST00000354674.4:c.2902T>C (SYNE1)	ENSP00000346701.4:p.Tyr968His
ENST00000367251.7:c.5144T>C (SYNE1)	ENSP00000356220.3:n.5144T>C
ENST00000367255.9:c.26368T>C (SYNE1)	ENSP00000356224.5:p.Tyr8790His
ENST00000367256.9:n.10060T>C (SYNE1)
ENST00000367257.8:c.4247T>C (SYNE1)	ENSP00000356226.4:n.4247T>C
ENST00000409694.6:n.9952T>C (SYNE1)
ENST00000423061.5:c.26224T>C (SYNE1)	ENSP00000396024.1:p.Tyr8742His
ENST00000427531.6:c.851-2804A>G (ESR1)	ENSP00000394721.2:n.851-2804A>G
ENST00000460912.6:n.2982T>C (SYNE1)
ENST00000478916.5:n.7005T>C (SYNE1)
ENST00000539504.5:c.2833T>C (SYNE1)	ENSP00000441052.1:p.Tyr945His
NM_033071.3:c.26224T>C (SYNE1)	NP_149062.1:p.Tyr8742His
NM_182961.3:c.26368T>C (SYNE1)	NP_892006.3:p.Tyr8790His
XM_006715407.1:c.26515T>C (SYNE1)	XP_006715470.1:p.Tyr8839His
XM_006715408.1:c.26503T>C (SYNE1)	XP_006715471.1:p.Tyr8835His
XM_006715409.1:c.26494T>C (SYNE1)	XP_006715472.1:p.Tyr8832His
XM_006715410.1:c.26473T>C (SYNE1)	XP_006715473.1:p.Tyr8825His
XM_006715411.1:c.26464T>C (SYNE1)	XP_006715474.1:p.Tyr8822His
XM_006715412.1:c.26458T>C (SYNE1)	XP_006715475.1:p.Tyr8820His
XM_006715413.1:c.26446T>C (SYNE1)	XP_006715476.1:p.Tyr8816His
XM_006715414.1:c.26443T>C (SYNE1)	XP_006715477.1:p.Tyr8815His
XM_006715415.1:c.26404T>C (SYNE1)	XP_006715478.1:p.Tyr8802His
XM_006715416.1:c.26389T>C (SYNE1)	XP_006715479.1:p.Tyr8797His
XM_006715417.1:c.26374T>C (SYNE1)	XP_006715480.1:p.Tyr8792His
XM_006715420.1:c.26362T>C (SYNE1)	XP_006715483.1:p.Tyr8788His
XM_006715421.1:c.26359T>C (SYNE1)	XP_006715484.1:p.Tyr8787His
XM_006715422.1:c.26356T>C (SYNE1)	XP_006715485.1:p.Tyr8786His
XM_006715423.1:c.*179T>C (SYNE1)	XP_006715486.1:n.*179T>C
XM_006715424.1:c.*179T>C (SYNE1)	XP_006715487.1:n.*179T>C
XM_006715425.1:c.*179T>C (SYNE1)	XP_006715488.1:n.*179T>C
XM_011535641.1:c.26512T>C (SYNE1)	XP_011533943.1:p.Tyr8838His
XM_011535642.1:c.26500T>C (SYNE1)	XP_011533944.1:p.Tyr8834His
XM_011535643.1:c.26350T>C (SYNE1)	XP_011533945.1:p.Tyr8784His
XM_011535644.1:c.24790T>C (SYNE1)	XP_011533946.1:p.Tyr8264His
XM_011535645.1:c.24283T>C (SYNE1)	XP_011533947.1:p.Tyr8095His
XM_011535647.1:c.19750T>C (SYNE1)	XP_011533949.1:p.Tyr6584His
NM_001328100.1:c.851-2804A>G (ESR1)	NP_001315029.1:n.851-2804A>G
NM_001347701.1:c.*179T>C (SYNE1)	NP_001334630.1:n.*179T>C
NM_001347702.1:c.2902T>C (SYNE1)	NP_001334631.1:p.Tyr968His
XM_006715408.2:c.26503T>C (SYNE1)	XP_006715471.1:p.Tyr8835His
XM_006715410.2:c.26473T>C (SYNE1)	XP_006715473.1:p.Tyr8825His
XM_006715412.2:c.26458T>C (SYNE1)	XP_006715475.1:p.Tyr8820His
XM_006715413.2:c.26446T>C (SYNE1)	XP_006715476.1:p.Tyr8816His
XM_006715415.2:c.26404T>C (SYNE1)	XP_006715478.1:p.Tyr8802His
XM_006715416.2:c.26389T>C (SYNE1)	XP_006715479.1:p.Tyr8797His
XM_006715417.2:c.26374T>C (SYNE1)	XP_006715480.1:p.Tyr8792His
XM_006715420.2:c.26362T>C (SYNE1)	XP_006715483.1:p.Tyr8788His
XM_006715421.2:c.26359T>C (SYNE1)	XP_006715484.1:p.Tyr8787His
XM_006715423.2:c.*179T>C (SYNE1)	XP_006715486.1:n.*179T>C
XM_006715424.2:c.*179T>C (SYNE1)	XP_006715487.1:n.*179T>C
XM_006715425.2:c.*179T>C (SYNE1)	XP_006715488.1:n.*179T>C
XM_011535641.2:c.26512T>C (SYNE1)	XP_011533943.1:p.Tyr8838His
XM_011535642.2:c.26500T>C (SYNE1)	XP_011533944.1:p.Tyr8834His
XM_011535645.2:c.24283T>C (SYNE1)	XP_011533947.1:p.Tyr8095His
XM_017010608.1:c.26515T>C (SYNE1)	XP_016866097.1:p.Tyr8839His
XM_017010609.1:c.26515T>C (SYNE1)	XP_016866098.1:p.Tyr8839His
XM_017010610.1:c.26494T>C (SYNE1)	XP_016866099.1:p.Tyr8832His
XM_017010611.2:c.26488T>C (SYNE1)	XP_016866100.1:p.Tyr8830His
XM_017010612.1:c.26437T>C (SYNE1)	XP_016866101.1:p.Tyr8813His
XM_017010613.1:c.26401T>C (SYNE1)	XP_016866102.1:p.Tyr8801His
XM_017010614.1:c.26359T>C (SYNE1)	XP_016866103.1:p.Tyr8787His
XM_017010615.1:c.26248T>C (SYNE1)	XP_016866104.1:p.Tyr8750His
XM_017010616.1:c.*179T>C (SYNE1)	XP_016866105.1:n.*179T>C
XM_017010617.1:c.*179T>C (SYNE1)	XP_016866106.1:n.*179T>C
XM_017010618.1:c.*179T>C (SYNE1)	XP_016866107.1:n.*179T>C
XM_017010619.1:c.24790T>C (SYNE1)	XP_016866108.1:p.Tyr8264His
NM_182961.4:c.26368T>C (SYNE1) MANE Select	NP_892006.3:p.Tyr8790His
NM_001328100.2:c.851-2804A>G (ESR1)	NP_001315029.1:n.851-2804A>G
NM_001347701.2:c.*179T>C (SYNE1)	NP_001334630.1:n.*179T>C
NM_001347702.2:c.2902T>C (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Tyr968His
NM_033071.5:c.26224T>C (SYNE1)	NP_149062.2:p.Tyr8742His