Canonical Allele Identifier: CA366088438

Gene: SYNE1 ESR1

Linked Data

• dbSNP Id: rs1208289394
• gnomAD v2: 6-152443587-C-T
• gnomAD v4: 6-152122452-C-T
• MyVariant Identifiers: chr6:g.152443587C>T (hg19) ; chr6:g.152122452C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122452C>T , CM000668.2:g.152122452C>T	GRCh38
NC_000006.11:g.152443587C>T , CM000668.1:g.152443587C>T	GRCh37
NC_000006.10:g.152485280C>T	NCBI36
NG_012855.1:g.519948G>A
NG_008493.2:g.470762C>T
NG_012855.2:g.519948G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2912G>A (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Gly971Asp
ENST00000367255.10:c.26378G>A (SYNE1) MANE Select	ENSP00000356224.5:p.Gly8793Asp
ENST00000423061.6:c.26234G>A (SYNE1)	ENSP00000396024.1:p.Gly8745Asp
ENST00000672154.1:c.1721G>A (SYNE1)
ENST00000672169.1:c.2096G>A (SYNE1)
ENST00000673173.1:c.1963G>A (SYNE1)
ENST00000673451.1:c.2228G>A (SYNE1)	ENSP00000500189.1:n.2228G>A
ENST00000341594.9:c.25163G>A (SYNE1)	ENSP00000341887.6:p.Gly8388Asp
ENST00000347037.9:n.3126G>A (SYNE1)
ENST00000354674.4:c.2912G>A (SYNE1)	ENSP00000346701.4:p.Gly971Asp
ENST00000367251.7:c.5154G>A (SYNE1)	ENSP00000356220.3:n.5154G>A
ENST00000367255.9:c.26378G>A (SYNE1)	ENSP00000356224.5:p.Gly8793Asp
ENST00000367256.9:n.10070G>A (SYNE1)
ENST00000367257.8:c.4257G>A (SYNE1)	ENSP00000356226.4:n.4257G>A
ENST00000409694.6:n.9962G>A (SYNE1)
ENST00000423061.5:c.26234G>A (SYNE1)	ENSP00000396024.1:p.Gly8745Asp
ENST00000427531.6:c.851-2814C>T (ESR1)	ENSP00000394721.2:n.851-2814C>T
ENST00000460912.6:n.2992G>A (SYNE1)
ENST00000478916.5:n.7015G>A (SYNE1)
ENST00000539504.5:c.2843G>A (SYNE1)	ENSP00000441052.1:p.Gly948Asp
NM_033071.3:c.26234G>A (SYNE1)	NP_149062.1:p.Gly8745Asp
NM_182961.3:c.26378G>A (SYNE1)	NP_892006.3:p.Gly8793Asp
XM_006715407.1:c.26525G>A (SYNE1)	XP_006715470.1:p.Gly8842Asp
XM_006715408.1:c.26513G>A (SYNE1)	XP_006715471.1:p.Gly8838Asp
XM_006715409.1:c.26504G>A (SYNE1)	XP_006715472.1:p.Gly8835Asp
XM_006715410.1:c.26483G>A (SYNE1)	XP_006715473.1:p.Gly8828Asp
XM_006715411.1:c.26474G>A (SYNE1)	XP_006715474.1:p.Gly8825Asp
XM_006715412.1:c.26468G>A (SYNE1)	XP_006715475.1:p.Gly8823Asp
XM_006715413.1:c.26456G>A (SYNE1)	XP_006715476.1:p.Gly8819Asp
XM_006715414.1:c.26453G>A (SYNE1)	XP_006715477.1:p.Gly8818Asp
XM_006715415.1:c.26414G>A (SYNE1)	XP_006715478.1:p.Gly8805Asp
XM_006715416.1:c.26399G>A (SYNE1)	XP_006715479.1:p.Gly8800Asp
XM_006715417.1:c.26384G>A (SYNE1)	XP_006715480.1:p.Gly8795Asp
XM_006715420.1:c.26372G>A (SYNE1)	XP_006715483.1:p.Gly8791Asp
XM_006715421.1:c.26369G>A (SYNE1)	XP_006715484.1:p.Gly8790Asp
XM_006715422.1:c.26366G>A (SYNE1)	XP_006715485.1:p.Gly8789Asp
XM_006715423.1:c.*189G>A (SYNE1)	XP_006715486.1:n.*189G>A
XM_006715424.1:c.*189G>A (SYNE1)	XP_006715487.1:n.*189G>A
XM_006715425.1:c.*189G>A (SYNE1)	XP_006715488.1:n.*189G>A
XM_011535641.1:c.26522G>A (SYNE1)	XP_011533943.1:p.Gly8841Asp
XM_011535642.1:c.26510G>A (SYNE1)	XP_011533944.1:p.Gly8837Asp
XM_011535643.1:c.26360G>A (SYNE1)	XP_011533945.1:p.Gly8787Asp
XM_011535644.1:c.24800G>A (SYNE1)	XP_011533946.1:p.Gly8267Asp
XM_011535645.1:c.24293G>A (SYNE1)	XP_011533947.1:p.Gly8098Asp
XM_011535647.1:c.19760G>A (SYNE1)	XP_011533949.1:p.Gly6587Asp
NM_001328100.1:c.851-2814C>T (ESR1)	NP_001315029.1:n.851-2814C>T
NM_001347701.1:c.*189G>A (SYNE1)	NP_001334630.1:n.*189G>A
NM_001347702.1:c.2912G>A (SYNE1)	NP_001334631.1:p.Gly971Asp
XM_006715408.2:c.26513G>A (SYNE1)	XP_006715471.1:p.Gly8838Asp
XM_006715410.2:c.26483G>A (SYNE1)	XP_006715473.1:p.Gly8828Asp
XM_006715412.2:c.26468G>A (SYNE1)	XP_006715475.1:p.Gly8823Asp
XM_006715413.2:c.26456G>A (SYNE1)	XP_006715476.1:p.Gly8819Asp
XM_006715415.2:c.26414G>A (SYNE1)	XP_006715478.1:p.Gly8805Asp
XM_006715416.2:c.26399G>A (SYNE1)	XP_006715479.1:p.Gly8800Asp
XM_006715417.2:c.26384G>A (SYNE1)	XP_006715480.1:p.Gly8795Asp
XM_006715420.2:c.26372G>A (SYNE1)	XP_006715483.1:p.Gly8791Asp
XM_006715421.2:c.26369G>A (SYNE1)	XP_006715484.1:p.Gly8790Asp
XM_006715423.2:c.*189G>A (SYNE1)	XP_006715486.1:n.*189G>A
XM_006715424.2:c.*189G>A (SYNE1)	XP_006715487.1:n.*189G>A
XM_006715425.2:c.*189G>A (SYNE1)	XP_006715488.1:n.*189G>A
XM_011535641.2:c.26522G>A (SYNE1)	XP_011533943.1:p.Gly8841Asp
XM_011535642.2:c.26510G>A (SYNE1)	XP_011533944.1:p.Gly8837Asp
XM_011535645.2:c.24293G>A (SYNE1)	XP_011533947.1:p.Gly8098Asp
XM_017010608.1:c.26525G>A (SYNE1)	XP_016866097.1:p.Gly8842Asp
XM_017010609.1:c.26525G>A (SYNE1)	XP_016866098.1:p.Gly8842Asp
XM_017010610.1:c.26504G>A (SYNE1)	XP_016866099.1:p.Gly8835Asp
XM_017010611.2:c.26498G>A (SYNE1)	XP_016866100.1:p.Gly8833Asp
XM_017010612.1:c.26447G>A (SYNE1)	XP_016866101.1:p.Gly8816Asp
XM_017010613.1:c.26411G>A (SYNE1)	XP_016866102.1:p.Gly8804Asp
XM_017010614.1:c.26369G>A (SYNE1)	XP_016866103.1:p.Gly8790Asp
XM_017010615.1:c.26258G>A (SYNE1)	XP_016866104.1:p.Gly8753Asp
XM_017010616.1:c.*189G>A (SYNE1)	XP_016866105.1:n.*189G>A
XM_017010617.1:c.*189G>A (SYNE1)	XP_016866106.1:n.*189G>A
XM_017010618.1:c.*189G>A (SYNE1)	XP_016866107.1:n.*189G>A
XM_017010619.1:c.24800G>A (SYNE1)	XP_016866108.1:p.Gly8267Asp
NM_182961.4:c.26378G>A (SYNE1) MANE Select	NP_892006.3:p.Gly8793Asp
NM_001328100.2:c.851-2814C>T (ESR1)	NP_001315029.1:n.851-2814C>T
NM_001347701.2:c.*189G>A (SYNE1)	NP_001334630.1:n.*189G>A
NM_001347702.2:c.2912G>A (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Gly971Asp
NM_033071.5:c.26234G>A (SYNE1)	NP_149062.2:p.Gly8745Asp