Canonical Allele Identifier: CA366088408

Gene: SYNE1 ESR1

Linked Data

• gnomAD v4: 6-152122436-T-C
• MyVariant Identifiers: chr6:g.152443571T>C (hg19) ; chr6:g.152122436T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122436T>C , CM000668.2:g.152122436T>C	GRCh38
NC_000006.11:g.152443571T>C , CM000668.1:g.152443571T>C	GRCh37
NC_000006.10:g.152485264T>C	NCBI36
NG_012855.1:g.519964A>G
NG_008493.2:g.470746T>C
NG_012855.2:g.519964A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2928A>G (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Ter976Trp
ENST00000367255.10:c.26394A>G (SYNE1) MANE Select	ENSP00000356224.5:p.Ter8798Trp
ENST00000423061.6:c.26250A>G (SYNE1)	ENSP00000396024.1:p.Ter8750Trp
ENST00000672154.1:c.1737A>G (SYNE1)
ENST00000672169.1:c.2112A>G (SYNE1)
ENST00000673173.1:c.1979A>G (SYNE1)
ENST00000673451.1:c.2244A>G (SYNE1)	ENSP00000500189.1:n.2244A>G
ENST00000341594.9:c.25179A>G (SYNE1)	ENSP00000341887.6:p.Ter8393Trp
ENST00000347037.9:n.3142A>G (SYNE1)
ENST00000354674.4:c.2928A>G (SYNE1)	ENSP00000346701.4:p.Ter976Trp
ENST00000367251.7:c.5170A>G (SYNE1)	ENSP00000356220.3:n.5170A>G
ENST00000367255.9:c.26394A>G (SYNE1)	ENSP00000356224.5:p.Ter8798Trp
ENST00000367256.9:n.10086A>G (SYNE1)
ENST00000367257.8:c.4273A>G (SYNE1)	ENSP00000356226.4:n.4273A>G
ENST00000409694.6:n.9978A>G (SYNE1)
ENST00000423061.5:c.26250A>G (SYNE1)	ENSP00000396024.1:p.Ter8750Trp
ENST00000427531.6:c.851-2830T>C (ESR1)	ENSP00000394721.2:n.851-2830T>C
ENST00000460912.6:n.3008A>G (SYNE1)
ENST00000478916.5:n.7031A>G (SYNE1)
ENST00000539504.5:c.2859A>G (SYNE1)	ENSP00000441052.1:p.Ter953Trp
NM_033071.3:c.26250A>G (SYNE1)	NP_149062.1:p.Ter8750Trp
NM_182961.3:c.26394A>G (SYNE1)	NP_892006.3:p.Ter8798Trp
XM_006715407.1:c.26541A>G (SYNE1)	XP_006715470.1:p.Ter8847Trp
XM_006715408.1:c.26529A>G (SYNE1)	XP_006715471.1:p.Ter8843Trp
XM_006715409.1:c.26520A>G (SYNE1)	XP_006715472.1:p.Ter8840Trp
XM_006715410.1:c.26499A>G (SYNE1)	XP_006715473.1:p.Ter8833Trp
XM_006715411.1:c.26490A>G (SYNE1)	XP_006715474.1:p.Ter8830Trp
XM_006715412.1:c.26484A>G (SYNE1)	XP_006715475.1:p.Ter8828Trp
XM_006715413.1:c.26472A>G (SYNE1)	XP_006715476.1:p.Ter8824Trp
XM_006715414.1:c.26469A>G (SYNE1)	XP_006715477.1:p.Ter8823Trp
XM_006715415.1:c.26430A>G (SYNE1)	XP_006715478.1:p.Ter8810Trp
XM_006715416.1:c.26415A>G (SYNE1)	XP_006715479.1:p.Ter8805Trp
XM_006715417.1:c.26400A>G (SYNE1)	XP_006715480.1:p.Ter8800Trp
XM_006715420.1:c.26388A>G (SYNE1)	XP_006715483.1:p.Ter8796Trp
XM_006715421.1:c.26385A>G (SYNE1)	XP_006715484.1:p.Ter8795Trp
XM_006715422.1:c.26382A>G (SYNE1)	XP_006715485.1:p.Ter8794Trp
XM_006715423.1:c.*205A>G (SYNE1)	XP_006715486.1:n.*205A>G
XM_006715424.1:c.*205A>G (SYNE1)	XP_006715487.1:n.*205A>G
XM_006715425.1:c.*205A>G (SYNE1)	XP_006715488.1:n.*205A>G
XM_011535641.1:c.26538A>G (SYNE1)	XP_011533943.1:p.Ter8846Trp
XM_011535642.1:c.26526A>G (SYNE1)	XP_011533944.1:p.Ter8842Trp
XM_011535643.1:c.26376A>G (SYNE1)	XP_011533945.1:p.Ter8792Trp
XM_011535644.1:c.24816A>G (SYNE1)	XP_011533946.1:p.Ter8272Trp
XM_011535645.1:c.24309A>G (SYNE1)	XP_011533947.1:p.Ter8103Trp
XM_011535647.1:c.19776A>G (SYNE1)	XP_011533949.1:p.Ter6592Trp
NM_001328100.1:c.851-2830T>C (ESR1)	NP_001315029.1:n.851-2830T>C
NM_001347701.1:c.*205A>G (SYNE1)	NP_001334630.1:n.*205A>G
NM_001347702.1:c.2928A>G (SYNE1)	NP_001334631.1:p.Ter976Trp
XM_006715408.2:c.26529A>G (SYNE1)	XP_006715471.1:p.Ter8843Trp
XM_006715410.2:c.26499A>G (SYNE1)	XP_006715473.1:p.Ter8833Trp
XM_006715412.2:c.26484A>G (SYNE1)	XP_006715475.1:p.Ter8828Trp
XM_006715413.2:c.26472A>G (SYNE1)	XP_006715476.1:p.Ter8824Trp
XM_006715415.2:c.26430A>G (SYNE1)	XP_006715478.1:p.Ter8810Trp
XM_006715416.2:c.26415A>G (SYNE1)	XP_006715479.1:p.Ter8805Trp
XM_006715417.2:c.26400A>G (SYNE1)	XP_006715480.1:p.Ter8800Trp
XM_006715420.2:c.26388A>G (SYNE1)	XP_006715483.1:p.Ter8796Trp
XM_006715421.2:c.26385A>G (SYNE1)	XP_006715484.1:p.Ter8795Trp
XM_006715423.2:c.*205A>G (SYNE1)	XP_006715486.1:n.*205A>G
XM_006715424.2:c.*205A>G (SYNE1)	XP_006715487.1:n.*205A>G
XM_006715425.2:c.*205A>G (SYNE1)	XP_006715488.1:n.*205A>G
XM_011535641.2:c.26538A>G (SYNE1)	XP_011533943.1:p.Ter8846Trp
XM_011535642.2:c.26526A>G (SYNE1)	XP_011533944.1:p.Ter8842Trp
XM_011535645.2:c.24309A>G (SYNE1)	XP_011533947.1:p.Ter8103Trp
XM_017010608.1:c.26541A>G (SYNE1)	XP_016866097.1:p.Ter8847Trp
XM_017010609.1:c.26541A>G (SYNE1)	XP_016866098.1:p.Ter8847Trp
XM_017010610.1:c.26520A>G (SYNE1)	XP_016866099.1:p.Ter8840Trp
XM_017010611.2:c.26514A>G (SYNE1)	XP_016866100.1:p.Ter8838Trp
XM_017010612.1:c.26463A>G (SYNE1)	XP_016866101.1:p.Ter8821Trp
XM_017010613.1:c.26427A>G (SYNE1)	XP_016866102.1:p.Ter8809Trp
XM_017010614.1:c.26385A>G (SYNE1)	XP_016866103.1:p.Ter8795Trp
XM_017010615.1:c.26274A>G (SYNE1)	XP_016866104.1:p.Ter8758Trp
XM_017010616.1:c.*205A>G (SYNE1)	XP_016866105.1:n.*205A>G
XM_017010617.1:c.*205A>G (SYNE1)	XP_016866106.1:n.*205A>G
XM_017010618.1:c.*205A>G (SYNE1)	XP_016866107.1:n.*205A>G
XM_017010619.1:c.24816A>G (SYNE1)	XP_016866108.1:p.Ter8272Trp
NM_182961.4:c.26394A>G (SYNE1) MANE Select	NP_892006.3:p.Ter8798Trp
NM_001328100.2:c.851-2830T>C (ESR1)	NP_001315029.1:n.851-2830T>C
NM_001347701.2:c.*205A>G (SYNE1)	NP_001334630.1:n.*205A>G
NM_001347702.2:c.2928A>G (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Ter976Trp
NM_033071.5:c.26250A>G (SYNE1)	NP_149062.2:p.Ter8750Trp