Canonical Allele Identifier: CA150189513

Gene: SYNE1 ESR1

Linked Data

• dbSNP Id: rs146389405
• gnomAD v3: 6-152122531-T-C
• gnomAD v4: 6-152122531-T-C
• MyVariant Identifiers: chr6:g.152443666T>C (hg19) ; chr6:g.152122531T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122531T>C , CM000668.2:g.152122531T>C	GRCh38
NC_000006.11:g.152443666T>C , CM000668.1:g.152443666T>C	GRCh37
NC_000006.10:g.152485359T>C	NCBI36
NG_012855.1:g.519869A>G
NG_008493.2:g.470841T>C
NG_012855.2:g.519869A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2833A>G (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Met945Val
ENST00000367255.10:c.26299A>G (SYNE1) MANE Select	ENSP00000356224.5:p.Met8767Val
ENST00000423061.6:c.26155A>G (SYNE1)	ENSP00000396024.1:p.Met8719Val
ENST00000672154.1:c.1642A>G (SYNE1)
ENST00000672169.1:c.2017A>G (SYNE1)
ENST00000673173.1:c.1884A>G (SYNE1)
ENST00000673451.1:c.2149A>G (SYNE1)	ENSP00000500189.1:n.2149A>G
ENST00000341594.9:c.25084A>G (SYNE1)	ENSP00000341887.6:p.Met8362Val
ENST00000347037.9:n.3047A>G (SYNE1)
ENST00000354674.4:c.2833A>G (SYNE1)	ENSP00000346701.4:p.Met945Val
ENST00000367251.7:c.5075A>G (SYNE1)	ENSP00000356220.3:n.5075A>G
ENST00000367255.9:c.26299A>G (SYNE1)	ENSP00000356224.5:p.Met8767Val
ENST00000367256.9:n.9991A>G (SYNE1)
ENST00000367257.8:c.4178A>G (SYNE1)	ENSP00000356226.4:n.4178A>G
ENST00000409694.6:n.9883A>G (SYNE1)
ENST00000423061.5:c.26155A>G (SYNE1)	ENSP00000396024.1:p.Met8719Val
ENST00000427531.6:c.851-2735T>C (ESR1)	ENSP00000394721.2:n.851-2735T>C
ENST00000460912.6:n.2913A>G (SYNE1)
ENST00000478916.5:n.6936A>G (SYNE1)
ENST00000539504.5:c.2764A>G (SYNE1)	ENSP00000441052.1:p.Met922Val
NM_033071.3:c.26155A>G (SYNE1)	NP_149062.1:p.Met8719Val
NM_182961.3:c.26299A>G (SYNE1)	NP_892006.3:p.Met8767Val
XM_006715407.1:c.26446A>G (SYNE1)	XP_006715470.1:p.Met8816Val
XM_006715408.1:c.26434A>G (SYNE1)	XP_006715471.1:p.Met8812Val
XM_006715409.1:c.26425A>G (SYNE1)	XP_006715472.1:p.Met8809Val
XM_006715410.1:c.26404A>G (SYNE1)	XP_006715473.1:p.Met8802Val
XM_006715411.1:c.26395A>G (SYNE1)	XP_006715474.1:p.Met8799Val
XM_006715412.1:c.26389A>G (SYNE1)	XP_006715475.1:p.Met8797Val
XM_006715413.1:c.26377A>G (SYNE1)	XP_006715476.1:p.Met8793Val
XM_006715414.1:c.26374A>G (SYNE1)	XP_006715477.1:p.Met8792Val
XM_006715415.1:c.26335A>G (SYNE1)	XP_006715478.1:p.Met8779Val
XM_006715416.1:c.26320A>G (SYNE1)	XP_006715479.1:p.Met8774Val
XM_006715417.1:c.26305A>G (SYNE1)	XP_006715480.1:p.Met8769Val
XM_006715420.1:c.26293A>G (SYNE1)	XP_006715483.1:p.Met8765Val
XM_006715421.1:c.26290A>G (SYNE1)	XP_006715484.1:p.Met8764Val
XM_006715422.1:c.26287A>G (SYNE1)	XP_006715485.1:p.Met8763Val
XM_006715423.1:c.*110A>G (SYNE1)	XP_006715486.1:n.*110A>G
XM_006715424.1:c.*110A>G (SYNE1)	XP_006715487.1:n.*110A>G
XM_006715425.1:c.*110A>G (SYNE1)	XP_006715488.1:n.*110A>G
XM_011535641.1:c.26443A>G (SYNE1)	XP_011533943.1:p.Met8815Val
XM_011535642.1:c.26431A>G (SYNE1)	XP_011533944.1:p.Met8811Val
XM_011535643.1:c.26281A>G (SYNE1)	XP_011533945.1:p.Met8761Val
XM_011535644.1:c.24721A>G (SYNE1)	XP_011533946.1:p.Met8241Val
XM_011535645.1:c.24214A>G (SYNE1)	XP_011533947.1:p.Met8072Val
XM_011535647.1:c.19681A>G (SYNE1)	XP_011533949.1:p.Met6561Val
NM_001328100.1:c.851-2735T>C (ESR1)	NP_001315029.1:n.851-2735T>C
NM_001347701.1:c.*110A>G (SYNE1)	NP_001334630.1:n.*110A>G
NM_001347702.1:c.2833A>G (SYNE1)	NP_001334631.1:p.Met945Val
XM_006715408.2:c.26434A>G (SYNE1)	XP_006715471.1:p.Met8812Val
XM_006715410.2:c.26404A>G (SYNE1)	XP_006715473.1:p.Met8802Val
XM_006715412.2:c.26389A>G (SYNE1)	XP_006715475.1:p.Met8797Val
XM_006715413.2:c.26377A>G (SYNE1)	XP_006715476.1:p.Met8793Val
XM_006715415.2:c.26335A>G (SYNE1)	XP_006715478.1:p.Met8779Val
XM_006715416.2:c.26320A>G (SYNE1)	XP_006715479.1:p.Met8774Val
XM_006715417.2:c.26305A>G (SYNE1)	XP_006715480.1:p.Met8769Val
XM_006715420.2:c.26293A>G (SYNE1)	XP_006715483.1:p.Met8765Val
XM_006715421.2:c.26290A>G (SYNE1)	XP_006715484.1:p.Met8764Val
XM_006715423.2:c.*110A>G (SYNE1)	XP_006715486.1:n.*110A>G
XM_006715424.2:c.*110A>G (SYNE1)	XP_006715487.1:n.*110A>G
XM_006715425.2:c.*110A>G (SYNE1)	XP_006715488.1:n.*110A>G
XM_011535641.2:c.26443A>G (SYNE1)	XP_011533943.1:p.Met8815Val
XM_011535642.2:c.26431A>G (SYNE1)	XP_011533944.1:p.Met8811Val
XM_011535645.2:c.24214A>G (SYNE1)	XP_011533947.1:p.Met8072Val
XM_017010608.1:c.26446A>G (SYNE1)	XP_016866097.1:p.Met8816Val
XM_017010609.1:c.26446A>G (SYNE1)	XP_016866098.1:p.Met8816Val
XM_017010610.1:c.26425A>G (SYNE1)	XP_016866099.1:p.Met8809Val
XM_017010611.2:c.26419A>G (SYNE1)	XP_016866100.1:p.Met8807Val
XM_017010612.1:c.26368A>G (SYNE1)	XP_016866101.1:p.Met8790Val
XM_017010613.1:c.26332A>G (SYNE1)	XP_016866102.1:p.Met8778Val
XM_017010614.1:c.26290A>G (SYNE1)	XP_016866103.1:p.Met8764Val
XM_017010615.1:c.26179A>G (SYNE1)	XP_016866104.1:p.Met8727Val
XM_017010616.1:c.*110A>G (SYNE1)	XP_016866105.1:n.*110A>G
XM_017010617.1:c.*110A>G (SYNE1)	XP_016866106.1:n.*110A>G
XM_017010618.1:c.*110A>G (SYNE1)	XP_016866107.1:n.*110A>G
XM_017010619.1:c.24721A>G (SYNE1)	XP_016866108.1:p.Met8241Val
NM_182961.4:c.26299A>G (SYNE1) MANE Select	NP_892006.3:p.Met8767Val
NM_001328100.2:c.851-2735T>C (ESR1)	NP_001315029.1:n.851-2735T>C
NM_001347701.2:c.*110A>G (SYNE1)	NP_001334630.1:n.*110A>G
NM_001347702.2:c.2833A>G (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Met945Val
NM_033071.5:c.26155A>G (SYNE1)	NP_149062.2:p.Met8719Val