Canonical Allele Identifier: CA366088717

Gene: SYNE1 ESR1

Linked Data

• gnomAD v3: 6-152122517-G-C
• gnomAD v4: 6-152122517-G-C
• MyVariant Identifiers: chr6:g.152443652G>C (hg19) ; chr6:g.152122517G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122517G>C , CM000668.2:g.152122517G>C	GRCh38
NC_000006.11:g.152443652G>C , CM000668.1:g.152443652G>C	GRCh37
NC_000006.10:g.152485345G>C	NCBI36
NG_012855.1:g.519883C>G
NG_008493.2:g.470827G>C
NG_012855.2:g.519883C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2847C>G (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Asp949Glu
ENST00000367255.10:c.26313C>G (SYNE1) MANE Select	ENSP00000356224.5:p.Asp8771Glu
ENST00000423061.6:c.26169C>G (SYNE1)	ENSP00000396024.1:p.Asp8723Glu
ENST00000672154.1:c.1656C>G (SYNE1)
ENST00000672169.1:c.2031C>G (SYNE1)
ENST00000673173.1:c.1898C>G (SYNE1)
ENST00000673451.1:c.2163C>G (SYNE1)	ENSP00000500189.1:n.2163C>G
ENST00000341594.9:c.25098C>G (SYNE1)	ENSP00000341887.6:p.Asp8366Glu
ENST00000347037.9:n.3061C>G (SYNE1)
ENST00000354674.4:c.2847C>G (SYNE1)	ENSP00000346701.4:p.Asp949Glu
ENST00000367251.7:c.5089C>G (SYNE1)	ENSP00000356220.3:n.5089C>G
ENST00000367255.9:c.26313C>G (SYNE1)	ENSP00000356224.5:p.Asp8771Glu
ENST00000367256.9:n.10005C>G (SYNE1)
ENST00000367257.8:c.4192C>G (SYNE1)	ENSP00000356226.4:n.4192C>G
ENST00000409694.6:n.9897C>G (SYNE1)
ENST00000423061.5:c.26169C>G (SYNE1)	ENSP00000396024.1:p.Asp8723Glu
ENST00000427531.6:c.851-2749G>C (ESR1)	ENSP00000394721.2:n.851-2749G>C
ENST00000460912.6:n.2927C>G (SYNE1)
ENST00000478916.5:n.6950C>G (SYNE1)
ENST00000539504.5:c.2778C>G (SYNE1)	ENSP00000441052.1:p.Asp926Glu
NM_033071.3:c.26169C>G (SYNE1)	NP_149062.1:p.Asp8723Glu
NM_182961.3:c.26313C>G (SYNE1)	NP_892006.3:p.Asp8771Glu
XM_006715407.1:c.26460C>G (SYNE1)	XP_006715470.1:p.Asp8820Glu
XM_006715408.1:c.26448C>G (SYNE1)	XP_006715471.1:p.Asp8816Glu
XM_006715409.1:c.26439C>G (SYNE1)	XP_006715472.1:p.Asp8813Glu
XM_006715410.1:c.26418C>G (SYNE1)	XP_006715473.1:p.Asp8806Glu
XM_006715411.1:c.26409C>G (SYNE1)	XP_006715474.1:p.Asp8803Glu
XM_006715412.1:c.26403C>G (SYNE1)	XP_006715475.1:p.Asp8801Glu
XM_006715413.1:c.26391C>G (SYNE1)	XP_006715476.1:p.Asp8797Glu
XM_006715414.1:c.26388C>G (SYNE1)	XP_006715477.1:p.Asp8796Glu
XM_006715415.1:c.26349C>G (SYNE1)	XP_006715478.1:p.Asp8783Glu
XM_006715416.1:c.26334C>G (SYNE1)	XP_006715479.1:p.Asp8778Glu
XM_006715417.1:c.26319C>G (SYNE1)	XP_006715480.1:p.Asp8773Glu
XM_006715420.1:c.26307C>G (SYNE1)	XP_006715483.1:p.Asp8769Glu
XM_006715421.1:c.26304C>G (SYNE1)	XP_006715484.1:p.Asp8768Glu
XM_006715422.1:c.26301C>G (SYNE1)	XP_006715485.1:p.Asp8767Glu
XM_006715423.1:c.*124C>G (SYNE1)	XP_006715486.1:n.*124C>G
XM_006715424.1:c.*124C>G (SYNE1)	XP_006715487.1:n.*124C>G
XM_006715425.1:c.*124C>G (SYNE1)	XP_006715488.1:n.*124C>G
XM_011535641.1:c.26457C>G (SYNE1)	XP_011533943.1:p.Asp8819Glu
XM_011535642.1:c.26445C>G (SYNE1)	XP_011533944.1:p.Asp8815Glu
XM_011535643.1:c.26295C>G (SYNE1)	XP_011533945.1:p.Asp8765Glu
XM_011535644.1:c.24735C>G (SYNE1)	XP_011533946.1:p.Asp8245Glu
XM_011535645.1:c.24228C>G (SYNE1)	XP_011533947.1:p.Asp8076Glu
XM_011535647.1:c.19695C>G (SYNE1)	XP_011533949.1:p.Asp6565Glu
NM_001328100.1:c.851-2749G>C (ESR1)	NP_001315029.1:n.851-2749G>C
NM_001347701.1:c.*124C>G (SYNE1)	NP_001334630.1:n.*124C>G
NM_001347702.1:c.2847C>G (SYNE1)	NP_001334631.1:p.Asp949Glu
XM_006715408.2:c.26448C>G (SYNE1)	XP_006715471.1:p.Asp8816Glu
XM_006715410.2:c.26418C>G (SYNE1)	XP_006715473.1:p.Asp8806Glu
XM_006715412.2:c.26403C>G (SYNE1)	XP_006715475.1:p.Asp8801Glu
XM_006715413.2:c.26391C>G (SYNE1)	XP_006715476.1:p.Asp8797Glu
XM_006715415.2:c.26349C>G (SYNE1)	XP_006715478.1:p.Asp8783Glu
XM_006715416.2:c.26334C>G (SYNE1)	XP_006715479.1:p.Asp8778Glu
XM_006715417.2:c.26319C>G (SYNE1)	XP_006715480.1:p.Asp8773Glu
XM_006715420.2:c.26307C>G (SYNE1)	XP_006715483.1:p.Asp8769Glu
XM_006715421.2:c.26304C>G (SYNE1)	XP_006715484.1:p.Asp8768Glu
XM_006715423.2:c.*124C>G (SYNE1)	XP_006715486.1:n.*124C>G
XM_006715424.2:c.*124C>G (SYNE1)	XP_006715487.1:n.*124C>G
XM_006715425.2:c.*124C>G (SYNE1)	XP_006715488.1:n.*124C>G
XM_011535641.2:c.26457C>G (SYNE1)	XP_011533943.1:p.Asp8819Glu
XM_011535642.2:c.26445C>G (SYNE1)	XP_011533944.1:p.Asp8815Glu
XM_011535645.2:c.24228C>G (SYNE1)	XP_011533947.1:p.Asp8076Glu
XM_017010608.1:c.26460C>G (SYNE1)	XP_016866097.1:p.Asp8820Glu
XM_017010609.1:c.26460C>G (SYNE1)	XP_016866098.1:p.Asp8820Glu
XM_017010610.1:c.26439C>G (SYNE1)	XP_016866099.1:p.Asp8813Glu
XM_017010611.2:c.26433C>G (SYNE1)	XP_016866100.1:p.Asp8811Glu
XM_017010612.1:c.26382C>G (SYNE1)	XP_016866101.1:p.Asp8794Glu
XM_017010613.1:c.26346C>G (SYNE1)	XP_016866102.1:p.Asp8782Glu
XM_017010614.1:c.26304C>G (SYNE1)	XP_016866103.1:p.Asp8768Glu
XM_017010615.1:c.26193C>G (SYNE1)	XP_016866104.1:p.Asp8731Glu
XM_017010616.1:c.*124C>G (SYNE1)	XP_016866105.1:n.*124C>G
XM_017010617.1:c.*124C>G (SYNE1)	XP_016866106.1:n.*124C>G
XM_017010618.1:c.*124C>G (SYNE1)	XP_016866107.1:n.*124C>G
XM_017010619.1:c.24735C>G (SYNE1)	XP_016866108.1:p.Asp8245Glu
NM_182961.4:c.26313C>G (SYNE1) MANE Select	NP_892006.3:p.Asp8771Glu
NM_001328100.2:c.851-2749G>C (ESR1)	NP_001315029.1:n.851-2749G>C
NM_001347701.2:c.*124C>G (SYNE1)	NP_001334630.1:n.*124C>G
NM_001347702.2:c.2847C>G (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Asp949Glu
NM_033071.5:c.26169C>G (SYNE1)	NP_149062.2:p.Asp8723Glu