Canonical Allele Identifier: CA452969629

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443738T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122603T>G , CM000668.2:g.152122603T>G	GRCh38
NC_000006.11:g.152443738T>G , CM000668.1:g.152443738T>G	GRCh37
NC_000006.10:g.152485431T>G	NCBI36
NG_012855.1:g.519797A>C
NG_008493.2:g.470913T>G
NG_012855.2:g.519797A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2761A>C (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Arg921=
ENST00000367255.10:c.26227A>C (SYNE1) MANE Select	ENSP00000356224.5:p.Arg8743=
ENST00000423061.6:c.26083A>C (SYNE1)	ENSP00000396024.1:p.Arg8695=
ENST00000672154.1:c.1570A>C (SYNE1)
ENST00000672169.1:c.1945A>C (SYNE1)
ENST00000673173.1:c.1812A>C (SYNE1)
ENST00000673451.1:c.2077A>C (SYNE1)	ENSP00000500189.1:n.2077A>C
ENST00000341594.9:c.25012A>C (SYNE1)	ENSP00000341887.6:p.Arg8338=
ENST00000347037.9:n.2975A>C (SYNE1)
ENST00000354674.4:c.2761A>C (SYNE1)	ENSP00000346701.4:p.Arg921=
ENST00000367251.7:c.5003A>C (SYNE1)	ENSP00000356220.3:n.5003A>C
ENST00000367255.9:c.26227A>C (SYNE1)	ENSP00000356224.5:p.Arg8743=
ENST00000367256.9:n.9919A>C (SYNE1)
ENST00000367257.8:c.4106A>C (SYNE1)	ENSP00000356226.4:n.4106A>C
ENST00000409694.6:n.9811A>C (SYNE1)
ENST00000423061.5:c.26083A>C (SYNE1)	ENSP00000396024.1:p.Arg8695=
ENST00000427531.6:c.851-2663T>G (ESR1)	ENSP00000394721.2:n.851-2663T>G
ENST00000460912.6:n.2841A>C (SYNE1)
ENST00000478916.5:n.6864A>C (SYNE1)
ENST00000539504.5:c.2692A>C (SYNE1)	ENSP00000441052.1:p.Arg898=
NM_033071.3:c.26083A>C (SYNE1)	NP_149062.1:p.Arg8695=
NM_182961.3:c.26227A>C (SYNE1)	NP_892006.3:p.Arg8743=
XM_006715407.1:c.26374A>C (SYNE1)	XP_006715470.1:p.Arg8792=
XM_006715408.1:c.26362A>C (SYNE1)	XP_006715471.1:p.Arg8788=
XM_006715409.1:c.26353A>C (SYNE1)	XP_006715472.1:p.Arg8785=
XM_006715410.1:c.26332A>C (SYNE1)	XP_006715473.1:p.Arg8778=
XM_006715411.1:c.26323A>C (SYNE1)	XP_006715474.1:p.Arg8775=
XM_006715412.1:c.26317A>C (SYNE1)	XP_006715475.1:p.Arg8773=
XM_006715413.1:c.26305A>C (SYNE1)	XP_006715476.1:p.Arg8769=
XM_006715414.1:c.26302A>C (SYNE1)	XP_006715477.1:p.Arg8768=
XM_006715415.1:c.26263A>C (SYNE1)	XP_006715478.1:p.Arg8755=
XM_006715416.1:c.26248A>C (SYNE1)	XP_006715479.1:p.Arg8750=
XM_006715417.1:c.26233A>C (SYNE1)	XP_006715480.1:p.Arg8745=
XM_006715420.1:c.26221A>C (SYNE1)	XP_006715483.1:p.Arg8741=
XM_006715421.1:c.26218A>C (SYNE1)	XP_006715484.1:p.Arg8740=
XM_006715422.1:c.26215A>C (SYNE1)	XP_006715485.1:p.Arg8739=
XM_006715423.1:c.*38A>C (SYNE1)	XP_006715486.1:n.*38A>C
XM_006715424.1:c.*38A>C (SYNE1)	XP_006715487.1:n.*38A>C
XM_006715425.1:c.*38A>C (SYNE1)	XP_006715488.1:n.*38A>C
XM_011535641.1:c.26371A>C (SYNE1)	XP_011533943.1:p.Arg8791=
XM_011535642.1:c.26359A>C (SYNE1)	XP_011533944.1:p.Arg8787=
XM_011535643.1:c.26209A>C (SYNE1)	XP_011533945.1:p.Arg8737=
XM_011535644.1:c.24649A>C (SYNE1)	XP_011533946.1:p.Arg8217=
XM_011535645.1:c.24142A>C (SYNE1)	XP_011533947.1:p.Arg8048=
XM_011535647.1:c.19609A>C (SYNE1)	XP_011533949.1:p.Arg6537=
NM_001328100.1:c.851-2663T>G (ESR1)	NP_001315029.1:n.851-2663T>G
NM_001347701.1:c.*38A>C (SYNE1)	NP_001334630.1:n.*38A>C
NM_001347702.1:c.2761A>C (SYNE1)	NP_001334631.1:p.Arg921=
XM_006715408.2:c.26362A>C (SYNE1)	XP_006715471.1:p.Arg8788=
XM_006715410.2:c.26332A>C (SYNE1)	XP_006715473.1:p.Arg8778=
XM_006715412.2:c.26317A>C (SYNE1)	XP_006715475.1:p.Arg8773=
XM_006715413.2:c.26305A>C (SYNE1)	XP_006715476.1:p.Arg8769=
XM_006715415.2:c.26263A>C (SYNE1)	XP_006715478.1:p.Arg8755=
XM_006715416.2:c.26248A>C (SYNE1)	XP_006715479.1:p.Arg8750=
XM_006715417.2:c.26233A>C (SYNE1)	XP_006715480.1:p.Arg8745=
XM_006715420.2:c.26221A>C (SYNE1)	XP_006715483.1:p.Arg8741=
XM_006715421.2:c.26218A>C (SYNE1)	XP_006715484.1:p.Arg8740=
XM_006715423.2:c.*38A>C (SYNE1)	XP_006715486.1:n.*38A>C
XM_006715424.2:c.*38A>C (SYNE1)	XP_006715487.1:n.*38A>C
XM_006715425.2:c.*38A>C (SYNE1)	XP_006715488.1:n.*38A>C
XM_011535641.2:c.26371A>C (SYNE1)	XP_011533943.1:p.Arg8791=
XM_011535642.2:c.26359A>C (SYNE1)	XP_011533944.1:p.Arg8787=
XM_011535645.2:c.24142A>C (SYNE1)	XP_011533947.1:p.Arg8048=
XM_017010608.1:c.26374A>C (SYNE1)	XP_016866097.1:p.Arg8792=
XM_017010609.1:c.26374A>C (SYNE1)	XP_016866098.1:p.Arg8792=
XM_017010610.1:c.26353A>C (SYNE1)	XP_016866099.1:p.Arg8785=
XM_017010611.2:c.26347A>C (SYNE1)	XP_016866100.1:p.Arg8783=
XM_017010612.1:c.26296A>C (SYNE1)	XP_016866101.1:p.Arg8766=
XM_017010613.1:c.26260A>C (SYNE1)	XP_016866102.1:p.Arg8754=
XM_017010614.1:c.26218A>C (SYNE1)	XP_016866103.1:p.Arg8740=
XM_017010615.1:c.26107A>C (SYNE1)	XP_016866104.1:p.Arg8703=
XM_017010616.1:c.*38A>C (SYNE1)	XP_016866105.1:n.*38A>C
XM_017010617.1:c.*38A>C (SYNE1)	XP_016866106.1:n.*38A>C
XM_017010618.1:c.*38A>C (SYNE1)	XP_016866107.1:n.*38A>C
XM_017010619.1:c.24649A>C (SYNE1)	XP_016866108.1:p.Arg8217=
NM_182961.4:c.26227A>C (SYNE1) MANE Select	NP_892006.3:p.Arg8743=
NM_001328100.2:c.851-2663T>G (ESR1)	NP_001315029.1:n.851-2663T>G
NM_001347701.2:c.*38A>C (SYNE1)	NP_001334630.1:n.*38A>C
NM_001347702.2:c.2761A>C (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Arg921=
NM_033071.5:c.26083A>C (SYNE1)	NP_149062.2:p.Arg8695=