Canonical Allele Identifier: CA366088647

Gene: SYNE1 ESR1

Linked Data

• gnomAD v4: 6-152122501-A-C
• MyVariant Identifiers: chr6:g.152443636A>C (hg19) ; chr6:g.152122501A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122501A>C , CM000668.2:g.152122501A>C	GRCh38
NC_000006.11:g.152443636A>C , CM000668.1:g.152443636A>C	GRCh37
NC_000006.10:g.152485329A>C	NCBI36
NG_012855.1:g.519899T>G
NG_008493.2:g.470811A>C
NG_012855.2:g.519899T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2863T>G (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Ser955Ala
ENST00000367255.10:c.26329T>G (SYNE1) MANE Select	ENSP00000356224.5:p.Ser8777Ala
ENST00000423061.6:c.26185T>G (SYNE1)	ENSP00000396024.1:p.Ser8729Ala
ENST00000672154.1:c.1672T>G (SYNE1)
ENST00000672169.1:c.2047T>G (SYNE1)
ENST00000673173.1:c.1914T>G (SYNE1)
ENST00000673451.1:c.2179T>G (SYNE1)	ENSP00000500189.1:n.2179T>G
ENST00000341594.9:c.25114T>G (SYNE1)	ENSP00000341887.6:p.Ser8372Ala
ENST00000347037.9:n.3077T>G (SYNE1)
ENST00000354674.4:c.2863T>G (SYNE1)	ENSP00000346701.4:p.Ser955Ala
ENST00000367251.7:c.5105T>G (SYNE1)	ENSP00000356220.3:n.5105T>G
ENST00000367255.9:c.26329T>G (SYNE1)	ENSP00000356224.5:p.Ser8777Ala
ENST00000367256.9:n.10021T>G (SYNE1)
ENST00000367257.8:c.4208T>G (SYNE1)	ENSP00000356226.4:n.4208T>G
ENST00000409694.6:n.9913T>G (SYNE1)
ENST00000423061.5:c.26185T>G (SYNE1)	ENSP00000396024.1:p.Ser8729Ala
ENST00000427531.6:c.851-2765A>C (ESR1)	ENSP00000394721.2:n.851-2765A>C
ENST00000460912.6:n.2943T>G (SYNE1)
ENST00000478916.5:n.6966T>G (SYNE1)
ENST00000539504.5:c.2794T>G (SYNE1)	ENSP00000441052.1:p.Ser932Ala
NM_033071.3:c.26185T>G (SYNE1)	NP_149062.1:p.Ser8729Ala
NM_182961.3:c.26329T>G (SYNE1)	NP_892006.3:p.Ser8777Ala
XM_006715407.1:c.26476T>G (SYNE1)	XP_006715470.1:p.Ser8826Ala
XM_006715408.1:c.26464T>G (SYNE1)	XP_006715471.1:p.Ser8822Ala
XM_006715409.1:c.26455T>G (SYNE1)	XP_006715472.1:p.Ser8819Ala
XM_006715410.1:c.26434T>G (SYNE1)	XP_006715473.1:p.Ser8812Ala
XM_006715411.1:c.26425T>G (SYNE1)	XP_006715474.1:p.Ser8809Ala
XM_006715412.1:c.26419T>G (SYNE1)	XP_006715475.1:p.Ser8807Ala
XM_006715413.1:c.26407T>G (SYNE1)	XP_006715476.1:p.Ser8803Ala
XM_006715414.1:c.26404T>G (SYNE1)	XP_006715477.1:p.Ser8802Ala
XM_006715415.1:c.26365T>G (SYNE1)	XP_006715478.1:p.Ser8789Ala
XM_006715416.1:c.26350T>G (SYNE1)	XP_006715479.1:p.Ser8784Ala
XM_006715417.1:c.26335T>G (SYNE1)	XP_006715480.1:p.Ser8779Ala
XM_006715420.1:c.26323T>G (SYNE1)	XP_006715483.1:p.Ser8775Ala
XM_006715421.1:c.26320T>G (SYNE1)	XP_006715484.1:p.Ser8774Ala
XM_006715422.1:c.26317T>G (SYNE1)	XP_006715485.1:p.Ser8773Ala
XM_006715423.1:c.*140T>G (SYNE1)	XP_006715486.1:n.*140T>G
XM_006715424.1:c.*140T>G (SYNE1)	XP_006715487.1:n.*140T>G
XM_006715425.1:c.*140T>G (SYNE1)	XP_006715488.1:n.*140T>G
XM_011535641.1:c.26473T>G (SYNE1)	XP_011533943.1:p.Ser8825Ala
XM_011535642.1:c.26461T>G (SYNE1)	XP_011533944.1:p.Ser8821Ala
XM_011535643.1:c.26311T>G (SYNE1)	XP_011533945.1:p.Ser8771Ala
XM_011535644.1:c.24751T>G (SYNE1)	XP_011533946.1:p.Ser8251Ala
XM_011535645.1:c.24244T>G (SYNE1)	XP_011533947.1:p.Ser8082Ala
XM_011535647.1:c.19711T>G (SYNE1)	XP_011533949.1:p.Ser6571Ala
NM_001328100.1:c.851-2765A>C (ESR1)	NP_001315029.1:n.851-2765A>C
NM_001347701.1:c.*140T>G (SYNE1)	NP_001334630.1:n.*140T>G
NM_001347702.1:c.2863T>G (SYNE1)	NP_001334631.1:p.Ser955Ala
XM_006715408.2:c.26464T>G (SYNE1)	XP_006715471.1:p.Ser8822Ala
XM_006715410.2:c.26434T>G (SYNE1)	XP_006715473.1:p.Ser8812Ala
XM_006715412.2:c.26419T>G (SYNE1)	XP_006715475.1:p.Ser8807Ala
XM_006715413.2:c.26407T>G (SYNE1)	XP_006715476.1:p.Ser8803Ala
XM_006715415.2:c.26365T>G (SYNE1)	XP_006715478.1:p.Ser8789Ala
XM_006715416.2:c.26350T>G (SYNE1)	XP_006715479.1:p.Ser8784Ala
XM_006715417.2:c.26335T>G (SYNE1)	XP_006715480.1:p.Ser8779Ala
XM_006715420.2:c.26323T>G (SYNE1)	XP_006715483.1:p.Ser8775Ala
XM_006715421.2:c.26320T>G (SYNE1)	XP_006715484.1:p.Ser8774Ala
XM_006715423.2:c.*140T>G (SYNE1)	XP_006715486.1:n.*140T>G
XM_006715424.2:c.*140T>G (SYNE1)	XP_006715487.1:n.*140T>G
XM_006715425.2:c.*140T>G (SYNE1)	XP_006715488.1:n.*140T>G
XM_011535641.2:c.26473T>G (SYNE1)	XP_011533943.1:p.Ser8825Ala
XM_011535642.2:c.26461T>G (SYNE1)	XP_011533944.1:p.Ser8821Ala
XM_011535645.2:c.24244T>G (SYNE1)	XP_011533947.1:p.Ser8082Ala
XM_017010608.1:c.26476T>G (SYNE1)	XP_016866097.1:p.Ser8826Ala
XM_017010609.1:c.26476T>G (SYNE1)	XP_016866098.1:p.Ser8826Ala
XM_017010610.1:c.26455T>G (SYNE1)	XP_016866099.1:p.Ser8819Ala
XM_017010611.2:c.26449T>G (SYNE1)	XP_016866100.1:p.Ser8817Ala
XM_017010612.1:c.26398T>G (SYNE1)	XP_016866101.1:p.Ser8800Ala
XM_017010613.1:c.26362T>G (SYNE1)	XP_016866102.1:p.Ser8788Ala
XM_017010614.1:c.26320T>G (SYNE1)	XP_016866103.1:p.Ser8774Ala
XM_017010615.1:c.26209T>G (SYNE1)	XP_016866104.1:p.Ser8737Ala
XM_017010616.1:c.*140T>G (SYNE1)	XP_016866105.1:n.*140T>G
XM_017010617.1:c.*140T>G (SYNE1)	XP_016866106.1:n.*140T>G
XM_017010618.1:c.*140T>G (SYNE1)	XP_016866107.1:n.*140T>G
XM_017010619.1:c.24751T>G (SYNE1)	XP_016866108.1:p.Ser8251Ala
NM_182961.4:c.26329T>G (SYNE1) MANE Select	NP_892006.3:p.Ser8777Ala
NM_001328100.2:c.851-2765A>C (ESR1)	NP_001315029.1:n.851-2765A>C
NM_001347701.2:c.*140T>G (SYNE1)	NP_001334630.1:n.*140T>G
NM_001347702.2:c.2863T>G (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Ser955Ala
NM_033071.5:c.26185T>G (SYNE1)	NP_149062.2:p.Ser8729Ala