Canonical Allele Identifier: CA4052585

Gene: SYNE1 ESR1

Linked Data

• dbSNP Id: rs773750120
• ExAC: 6:152443630 T / C
• gnomAD v2: 6-152443630-T-C
• gnomAD v4: 6-152122495-T-C
• MyVariant Identifiers: chr6:g.152443630T>C (hg19) ; chr6:g.152122495T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122495T>C , CM000668.2:g.152122495T>C	GRCh38
NC_000006.11:g.152443630T>C , CM000668.1:g.152443630T>C	GRCh37
NC_000006.10:g.152485323T>C	NCBI36
NG_012855.1:g.519905A>G
NG_008493.2:g.470805T>C
NG_012855.2:g.519905A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2869A>G (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Asn957Asp
ENST00000367255.10:c.26335A>G (SYNE1) MANE Select	ENSP00000356224.5:p.Asn8779Asp
ENST00000423061.6:c.26191A>G (SYNE1)	ENSP00000396024.1:p.Asn8731Asp
ENST00000672154.1:c.1678A>G (SYNE1)
ENST00000672169.1:c.2053A>G (SYNE1)
ENST00000673173.1:c.1920A>G (SYNE1)
ENST00000673451.1:c.2185A>G (SYNE1)	ENSP00000500189.1:n.2185A>G
ENST00000341594.9:c.25120A>G (SYNE1)	ENSP00000341887.6:p.Asn8374Asp
ENST00000347037.9:n.3083A>G (SYNE1)
ENST00000354674.4:c.2869A>G (SYNE1)	ENSP00000346701.4:p.Asn957Asp
ENST00000367251.7:c.5111A>G (SYNE1)	ENSP00000356220.3:n.5111A>G
ENST00000367255.9:c.26335A>G (SYNE1)	ENSP00000356224.5:p.Asn8779Asp
ENST00000367256.9:n.10027A>G (SYNE1)
ENST00000367257.8:c.4214A>G (SYNE1)	ENSP00000356226.4:n.4214A>G
ENST00000409694.6:n.9919A>G (SYNE1)
ENST00000423061.5:c.26191A>G (SYNE1)	ENSP00000396024.1:p.Asn8731Asp
ENST00000427531.6:c.851-2771T>C (ESR1)	ENSP00000394721.2:n.851-2771T>C
ENST00000460912.6:n.2949A>G (SYNE1)
ENST00000478916.5:n.6972A>G (SYNE1)
ENST00000539504.5:c.2800A>G (SYNE1)	ENSP00000441052.1:p.Asn934Asp
NM_033071.3:c.26191A>G (SYNE1)	NP_149062.1:p.Asn8731Asp
NM_182961.3:c.26335A>G (SYNE1)	NP_892006.3:p.Asn8779Asp
XM_006715407.1:c.26482A>G (SYNE1)	XP_006715470.1:p.Asn8828Asp
XM_006715408.1:c.26470A>G (SYNE1)	XP_006715471.1:p.Asn8824Asp
XM_006715409.1:c.26461A>G (SYNE1)	XP_006715472.1:p.Asn8821Asp
XM_006715410.1:c.26440A>G (SYNE1)	XP_006715473.1:p.Asn8814Asp
XM_006715411.1:c.26431A>G (SYNE1)	XP_006715474.1:p.Asn8811Asp
XM_006715412.1:c.26425A>G (SYNE1)	XP_006715475.1:p.Asn8809Asp
XM_006715413.1:c.26413A>G (SYNE1)	XP_006715476.1:p.Asn8805Asp
XM_006715414.1:c.26410A>G (SYNE1)	XP_006715477.1:p.Asn8804Asp
XM_006715415.1:c.26371A>G (SYNE1)	XP_006715478.1:p.Asn8791Asp
XM_006715416.1:c.26356A>G (SYNE1)	XP_006715479.1:p.Asn8786Asp
XM_006715417.1:c.26341A>G (SYNE1)	XP_006715480.1:p.Asn8781Asp
XM_006715420.1:c.26329A>G (SYNE1)	XP_006715483.1:p.Asn8777Asp
XM_006715421.1:c.26326A>G (SYNE1)	XP_006715484.1:p.Asn8776Asp
XM_006715422.1:c.26323A>G (SYNE1)	XP_006715485.1:p.Asn8775Asp
XM_006715423.1:c.*146A>G (SYNE1)	XP_006715486.1:n.*146A>G
XM_006715424.1:c.*146A>G (SYNE1)	XP_006715487.1:n.*146A>G
XM_006715425.1:c.*146A>G (SYNE1)	XP_006715488.1:n.*146A>G
XM_011535641.1:c.26479A>G (SYNE1)	XP_011533943.1:p.Asn8827Asp
XM_011535642.1:c.26467A>G (SYNE1)	XP_011533944.1:p.Asn8823Asp
XM_011535643.1:c.26317A>G (SYNE1)	XP_011533945.1:p.Asn8773Asp
XM_011535644.1:c.24757A>G (SYNE1)	XP_011533946.1:p.Asn8253Asp
XM_011535645.1:c.24250A>G (SYNE1)	XP_011533947.1:p.Asn8084Asp
XM_011535647.1:c.19717A>G (SYNE1)	XP_011533949.1:p.Asn6573Asp
NM_001328100.1:c.851-2771T>C (ESR1)	NP_001315029.1:n.851-2771T>C
NM_001347701.1:c.*146A>G (SYNE1)	NP_001334630.1:n.*146A>G
NM_001347702.1:c.2869A>G (SYNE1)	NP_001334631.1:p.Asn957Asp
XM_006715408.2:c.26470A>G (SYNE1)	XP_006715471.1:p.Asn8824Asp
XM_006715410.2:c.26440A>G (SYNE1)	XP_006715473.1:p.Asn8814Asp
XM_006715412.2:c.26425A>G (SYNE1)	XP_006715475.1:p.Asn8809Asp
XM_006715413.2:c.26413A>G (SYNE1)	XP_006715476.1:p.Asn8805Asp
XM_006715415.2:c.26371A>G (SYNE1)	XP_006715478.1:p.Asn8791Asp
XM_006715416.2:c.26356A>G (SYNE1)	XP_006715479.1:p.Asn8786Asp
XM_006715417.2:c.26341A>G (SYNE1)	XP_006715480.1:p.Asn8781Asp
XM_006715420.2:c.26329A>G (SYNE1)	XP_006715483.1:p.Asn8777Asp
XM_006715421.2:c.26326A>G (SYNE1)	XP_006715484.1:p.Asn8776Asp
XM_006715423.2:c.*146A>G (SYNE1)	XP_006715486.1:n.*146A>G
XM_006715424.2:c.*146A>G (SYNE1)	XP_006715487.1:n.*146A>G
XM_006715425.2:c.*146A>G (SYNE1)	XP_006715488.1:n.*146A>G
XM_011535641.2:c.26479A>G (SYNE1)	XP_011533943.1:p.Asn8827Asp
XM_011535642.2:c.26467A>G (SYNE1)	XP_011533944.1:p.Asn8823Asp
XM_011535645.2:c.24250A>G (SYNE1)	XP_011533947.1:p.Asn8084Asp
XM_017010608.1:c.26482A>G (SYNE1)	XP_016866097.1:p.Asn8828Asp
XM_017010609.1:c.26482A>G (SYNE1)	XP_016866098.1:p.Asn8828Asp
XM_017010610.1:c.26461A>G (SYNE1)	XP_016866099.1:p.Asn8821Asp
XM_017010611.2:c.26455A>G (SYNE1)	XP_016866100.1:p.Asn8819Asp
XM_017010612.1:c.26404A>G (SYNE1)	XP_016866101.1:p.Asn8802Asp
XM_017010613.1:c.26368A>G (SYNE1)	XP_016866102.1:p.Asn8790Asp
XM_017010614.1:c.26326A>G (SYNE1)	XP_016866103.1:p.Asn8776Asp
XM_017010615.1:c.26215A>G (SYNE1)	XP_016866104.1:p.Asn8739Asp
XM_017010616.1:c.*146A>G (SYNE1)	XP_016866105.1:n.*146A>G
XM_017010617.1:c.*146A>G (SYNE1)	XP_016866106.1:n.*146A>G
XM_017010618.1:c.*146A>G (SYNE1)	XP_016866107.1:n.*146A>G
XM_017010619.1:c.24757A>G (SYNE1)	XP_016866108.1:p.Asn8253Asp
NM_182961.4:c.26335A>G (SYNE1) MANE Select	NP_892006.3:p.Asn8779Asp
NM_001328100.2:c.851-2771T>C (ESR1)	NP_001315029.1:n.851-2771T>C
NM_001347701.2:c.*146A>G (SYNE1)	NP_001334630.1:n.*146A>G
NM_001347702.2:c.2869A>G (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Asn957Asp
NM_033071.5:c.26191A>G (SYNE1)	NP_149062.2:p.Asn8731Asp