Canonical Allele Identifier: CA366089224

Gene: SYNE1 ESR1

Linked Data

• gnomAD v4: 6-152122653-G-C
• MyVariant Identifiers: chr6:g.152443788G>C (hg19) ; chr6:g.152122653G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122653G>C , CM000668.2:g.152122653G>C	GRCh38
NC_000006.11:g.152443788G>C , CM000668.1:g.152443788G>C	GRCh37
NC_000006.10:g.152485481G>C	NCBI36
NG_012855.1:g.519747C>G
NG_008493.2:g.470963G>C
NG_012855.2:g.519747C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2711C>G (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Ser904Cys
ENST00000367255.10:c.26177C>G (SYNE1) MANE Select	ENSP00000356224.5:p.Ser8726Cys
ENST00000423061.6:c.26033C>G (SYNE1)	ENSP00000396024.1:p.Ser8678Cys
ENST00000672154.1:c.1520C>G (SYNE1)
ENST00000672169.1:c.1895C>G (SYNE1)
ENST00000673173.1:c.1762C>G (SYNE1)
ENST00000673451.1:c.2027C>G (SYNE1)	ENSP00000500189.1:n.2027C>G
ENST00000341594.9:c.24962C>G (SYNE1)	ENSP00000341887.6:p.Ser8321Cys
ENST00000347037.9:n.2925C>G (SYNE1)
ENST00000354674.4:c.2711C>G (SYNE1)	ENSP00000346701.4:p.Ser904Cys
ENST00000367251.7:c.4953C>G (SYNE1)	ENSP00000356220.3:p.Phe1651Leu
ENST00000367255.9:c.26177C>G (SYNE1)	ENSP00000356224.5:p.Ser8726Cys
ENST00000367256.9:n.9869C>G (SYNE1)
ENST00000367257.8:c.4056C>G (SYNE1)	ENSP00000356226.4:p.Phe1352Leu
ENST00000409694.6:n.9761C>G (SYNE1)
ENST00000423061.5:c.26033C>G (SYNE1)	ENSP00000396024.1:p.Ser8678Cys
ENST00000427531.6:c.851-2613G>C (ESR1)	ENSP00000394721.2:n.851-2613G>C
ENST00000460912.6:n.2791C>G (SYNE1)
ENST00000478916.5:n.6814C>G (SYNE1)
ENST00000536990.5:n.2955C>G (SYNE1)
ENST00000539504.5:c.2642C>G (SYNE1)	ENSP00000441052.1:p.Ser881Cys
NM_033071.3:c.26033C>G (SYNE1)	NP_149062.1:p.Ser8678Cys
NM_182961.3:c.26177C>G (SYNE1)	NP_892006.3:p.Ser8726Cys
XM_006715407.1:c.26324C>G (SYNE1)	XP_006715470.1:p.Ser8775Cys
XM_006715408.1:c.26312C>G (SYNE1)	XP_006715471.1:p.Ser8771Cys
XM_006715409.1:c.26303C>G (SYNE1)	XP_006715472.1:p.Ser8768Cys
XM_006715410.1:c.26282C>G (SYNE1)	XP_006715473.1:p.Ser8761Cys
XM_006715411.1:c.26273C>G (SYNE1)	XP_006715474.1:p.Ser8758Cys
XM_006715412.1:c.26267C>G (SYNE1)	XP_006715475.1:p.Ser8756Cys
XM_006715413.1:c.26255C>G (SYNE1)	XP_006715476.1:p.Ser8752Cys
XM_006715414.1:c.26252C>G (SYNE1)	XP_006715477.1:p.Ser8751Cys
XM_006715415.1:c.26213C>G (SYNE1)	XP_006715478.1:p.Ser8738Cys
XM_006715416.1:c.26198C>G (SYNE1)	XP_006715479.1:p.Ser8733Cys
XM_006715417.1:c.26183C>G (SYNE1)	XP_006715480.1:p.Ser8728Cys
XM_006715420.1:c.26171C>G (SYNE1)	XP_006715483.1:p.Ser8724Cys
XM_006715421.1:c.26168C>G (SYNE1)	XP_006715484.1:p.Ser8723Cys
XM_006715422.1:c.26165C>G (SYNE1)	XP_006715485.1:p.Ser8722Cys
XM_006715423.1:c.26265C>G (SYNE1)	XP_006715486.1:p.Phe8755Leu
XM_006715424.1:c.26223C>G (SYNE1)	XP_006715487.1:p.Phe8741Leu
XM_006715425.1:c.26154C>G (SYNE1)	XP_006715488.1:p.Phe8718Leu
XM_011535641.1:c.26321C>G (SYNE1)	XP_011533943.1:p.Ser8774Cys
XM_011535642.1:c.26309C>G (SYNE1)	XP_011533944.1:p.Ser8770Cys
XM_011535643.1:c.26159C>G (SYNE1)	XP_011533945.1:p.Ser8720Cys
XM_011535644.1:c.24599C>G (SYNE1)	XP_011533946.1:p.Ser8200Cys
XM_011535645.1:c.24092C>G (SYNE1)	XP_011533947.1:p.Ser8031Cys
XM_011535647.1:c.19559C>G (SYNE1)	XP_011533949.1:p.Ser6520Cys
NM_001328100.1:c.851-2613G>C (ESR1)	NP_001315029.1:n.851-2613G>C
NM_001347701.1:c.2724C>G (SYNE1)	NP_001334630.1:p.Phe908Leu
NM_001347702.1:c.2711C>G (SYNE1)	NP_001334631.1:p.Ser904Cys
XM_006715408.2:c.26312C>G (SYNE1)	XP_006715471.1:p.Ser8771Cys
XM_006715410.2:c.26282C>G (SYNE1)	XP_006715473.1:p.Ser8761Cys
XM_006715412.2:c.26267C>G (SYNE1)	XP_006715475.1:p.Ser8756Cys
XM_006715413.2:c.26255C>G (SYNE1)	XP_006715476.1:p.Ser8752Cys
XM_006715415.2:c.26213C>G (SYNE1)	XP_006715478.1:p.Ser8738Cys
XM_006715416.2:c.26198C>G (SYNE1)	XP_006715479.1:p.Ser8733Cys
XM_006715417.2:c.26183C>G (SYNE1)	XP_006715480.1:p.Ser8728Cys
XM_006715420.2:c.26171C>G (SYNE1)	XP_006715483.1:p.Ser8724Cys
XM_006715421.2:c.26168C>G (SYNE1)	XP_006715484.1:p.Ser8723Cys
XM_006715423.2:c.26265C>G (SYNE1)	XP_006715486.1:p.Phe8755Leu
XM_006715424.2:c.26223C>G (SYNE1)	XP_006715487.1:p.Phe8741Leu
XM_006715425.2:c.26154C>G (SYNE1)	XP_006715488.1:p.Phe8718Leu
XM_011535641.2:c.26321C>G (SYNE1)	XP_011533943.1:p.Ser8774Cys
XM_011535642.2:c.26309C>G (SYNE1)	XP_011533944.1:p.Ser8770Cys
XM_011535645.2:c.24092C>G (SYNE1)	XP_011533947.1:p.Ser8031Cys
XM_017010608.1:c.26324C>G (SYNE1)	XP_016866097.1:p.Ser8775Cys
XM_017010609.1:c.26324C>G (SYNE1)	XP_016866098.1:p.Ser8775Cys
XM_017010610.1:c.26303C>G (SYNE1)	XP_016866099.1:p.Ser8768Cys
XM_017010611.2:c.26297C>G (SYNE1)	XP_016866100.1:p.Ser8766Cys
XM_017010612.1:c.26246C>G (SYNE1)	XP_016866101.1:p.Ser8749Cys
XM_017010613.1:c.26210C>G (SYNE1)	XP_016866102.1:p.Ser8737Cys
XM_017010614.1:c.26168C>G (SYNE1)	XP_016866103.1:p.Ser8723Cys
XM_017010615.1:c.26057C>G (SYNE1)	XP_016866104.1:p.Ser8686Cys
XM_017010616.1:c.26196C>G (SYNE1)	XP_016866105.1:p.Phe8732Leu
XM_017010617.1:c.26151C>G (SYNE1)	XP_016866106.1:p.Phe8717Leu
XM_017010618.1:c.26139C>G (SYNE1)	XP_016866107.1:p.Phe8713Leu
XM_017010619.1:c.24599C>G (SYNE1)	XP_016866108.1:p.Ser8200Cys
NM_182961.4:c.26177C>G (SYNE1) MANE Select	NP_892006.3:p.Ser8726Cys
NM_001328100.2:c.851-2613G>C (ESR1)	NP_001315029.1:n.851-2613G>C
NM_001347701.2:c.2724C>G (SYNE1)	NP_001334630.1:p.Phe908Leu
NM_001347702.2:c.2711C>G (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Ser904Cys
NM_033071.5:c.26033C>G (SYNE1)	NP_149062.2:p.Ser8678Cys