Canonical Allele Identifier: CA366088880

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443695A>C (hg19) ; chr6:g.152122560A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122560A>C , CM000668.2:g.152122560A>C	GRCh38
NC_000006.11:g.152443695A>C , CM000668.1:g.152443695A>C	GRCh37
NC_000006.10:g.152485388A>C	NCBI36
NG_012855.1:g.519840T>G
NG_008493.2:g.470870A>C
NG_012855.2:g.519840T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2804T>G (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Leu935Arg
ENST00000367255.10:c.26270T>G (SYNE1) MANE Select	ENSP00000356224.5:p.Leu8757Arg
ENST00000423061.6:c.26126T>G (SYNE1)	ENSP00000396024.1:p.Leu8709Arg
ENST00000672154.1:c.1613T>G (SYNE1)
ENST00000672169.1:c.1988T>G (SYNE1)
ENST00000673173.1:c.1855T>G (SYNE1)
ENST00000673451.1:c.2120T>G (SYNE1)	ENSP00000500189.1:n.2120T>G
ENST00000341594.9:c.25055T>G (SYNE1)	ENSP00000341887.6:p.Leu8352Arg
ENST00000347037.9:n.3018T>G (SYNE1)
ENST00000354674.4:c.2804T>G (SYNE1)	ENSP00000346701.4:p.Leu935Arg
ENST00000367251.7:c.5046T>G (SYNE1)	ENSP00000356220.3:n.5046T>G
ENST00000367255.9:c.26270T>G (SYNE1)	ENSP00000356224.5:p.Leu8757Arg
ENST00000367256.9:n.9962T>G (SYNE1)
ENST00000367257.8:c.4149T>G (SYNE1)	ENSP00000356226.4:n.4149T>G
ENST00000409694.6:n.9854T>G (SYNE1)
ENST00000423061.5:c.26126T>G (SYNE1)	ENSP00000396024.1:p.Leu8709Arg
ENST00000427531.6:c.851-2706A>C (ESR1)	ENSP00000394721.2:n.851-2706A>C
ENST00000460912.6:n.2884T>G (SYNE1)
ENST00000478916.5:n.6907T>G (SYNE1)
ENST00000539504.5:c.2735T>G (SYNE1)	ENSP00000441052.1:p.Leu912Arg
NM_033071.3:c.26126T>G (SYNE1)	NP_149062.1:p.Leu8709Arg
NM_182961.3:c.26270T>G (SYNE1)	NP_892006.3:p.Leu8757Arg
XM_006715407.1:c.26417T>G (SYNE1)	XP_006715470.1:p.Leu8806Arg
XM_006715408.1:c.26405T>G (SYNE1)	XP_006715471.1:p.Leu8802Arg
XM_006715409.1:c.26396T>G (SYNE1)	XP_006715472.1:p.Leu8799Arg
XM_006715410.1:c.26375T>G (SYNE1)	XP_006715473.1:p.Leu8792Arg
XM_006715411.1:c.26366T>G (SYNE1)	XP_006715474.1:p.Leu8789Arg
XM_006715412.1:c.26360T>G (SYNE1)	XP_006715475.1:p.Leu8787Arg
XM_006715413.1:c.26348T>G (SYNE1)	XP_006715476.1:p.Leu8783Arg
XM_006715414.1:c.26345T>G (SYNE1)	XP_006715477.1:p.Leu8782Arg
XM_006715415.1:c.26306T>G (SYNE1)	XP_006715478.1:p.Leu8769Arg
XM_006715416.1:c.26291T>G (SYNE1)	XP_006715479.1:p.Leu8764Arg
XM_006715417.1:c.26276T>G (SYNE1)	XP_006715480.1:p.Leu8759Arg
XM_006715420.1:c.26264T>G (SYNE1)	XP_006715483.1:p.Leu8755Arg
XM_006715421.1:c.26261T>G (SYNE1)	XP_006715484.1:p.Leu8754Arg
XM_006715422.1:c.26258T>G (SYNE1)	XP_006715485.1:p.Leu8753Arg
XM_006715423.1:c.*81T>G (SYNE1)	XP_006715486.1:n.*81T>G
XM_006715424.1:c.*81T>G (SYNE1)	XP_006715487.1:n.*81T>G
XM_006715425.1:c.*81T>G (SYNE1)	XP_006715488.1:n.*81T>G
XM_011535641.1:c.26414T>G (SYNE1)	XP_011533943.1:p.Leu8805Arg
XM_011535642.1:c.26402T>G (SYNE1)	XP_011533944.1:p.Leu8801Arg
XM_011535643.1:c.26252T>G (SYNE1)	XP_011533945.1:p.Leu8751Arg
XM_011535644.1:c.24692T>G (SYNE1)	XP_011533946.1:p.Leu8231Arg
XM_011535645.1:c.24185T>G (SYNE1)	XP_011533947.1:p.Leu8062Arg
XM_011535647.1:c.19652T>G (SYNE1)	XP_011533949.1:p.Leu6551Arg
NM_001328100.1:c.851-2706A>C (ESR1)	NP_001315029.1:n.851-2706A>C
NM_001347701.1:c.*81T>G (SYNE1)	NP_001334630.1:n.*81T>G
NM_001347702.1:c.2804T>G (SYNE1)	NP_001334631.1:p.Leu935Arg
XM_006715408.2:c.26405T>G (SYNE1)	XP_006715471.1:p.Leu8802Arg
XM_006715410.2:c.26375T>G (SYNE1)	XP_006715473.1:p.Leu8792Arg
XM_006715412.2:c.26360T>G (SYNE1)	XP_006715475.1:p.Leu8787Arg
XM_006715413.2:c.26348T>G (SYNE1)	XP_006715476.1:p.Leu8783Arg
XM_006715415.2:c.26306T>G (SYNE1)	XP_006715478.1:p.Leu8769Arg
XM_006715416.2:c.26291T>G (SYNE1)	XP_006715479.1:p.Leu8764Arg
XM_006715417.2:c.26276T>G (SYNE1)	XP_006715480.1:p.Leu8759Arg
XM_006715420.2:c.26264T>G (SYNE1)	XP_006715483.1:p.Leu8755Arg
XM_006715421.2:c.26261T>G (SYNE1)	XP_006715484.1:p.Leu8754Arg
XM_006715423.2:c.*81T>G (SYNE1)	XP_006715486.1:n.*81T>G
XM_006715424.2:c.*81T>G (SYNE1)	XP_006715487.1:n.*81T>G
XM_006715425.2:c.*81T>G (SYNE1)	XP_006715488.1:n.*81T>G
XM_011535641.2:c.26414T>G (SYNE1)	XP_011533943.1:p.Leu8805Arg
XM_011535642.2:c.26402T>G (SYNE1)	XP_011533944.1:p.Leu8801Arg
XM_011535645.2:c.24185T>G (SYNE1)	XP_011533947.1:p.Leu8062Arg
XM_017010608.1:c.26417T>G (SYNE1)	XP_016866097.1:p.Leu8806Arg
XM_017010609.1:c.26417T>G (SYNE1)	XP_016866098.1:p.Leu8806Arg
XM_017010610.1:c.26396T>G (SYNE1)	XP_016866099.1:p.Leu8799Arg
XM_017010611.2:c.26390T>G (SYNE1)	XP_016866100.1:p.Leu8797Arg
XM_017010612.1:c.26339T>G (SYNE1)	XP_016866101.1:p.Leu8780Arg
XM_017010613.1:c.26303T>G (SYNE1)	XP_016866102.1:p.Leu8768Arg
XM_017010614.1:c.26261T>G (SYNE1)	XP_016866103.1:p.Leu8754Arg
XM_017010615.1:c.26150T>G (SYNE1)	XP_016866104.1:p.Leu8717Arg
XM_017010616.1:c.*81T>G (SYNE1)	XP_016866105.1:n.*81T>G
XM_017010617.1:c.*81T>G (SYNE1)	XP_016866106.1:n.*81T>G
XM_017010618.1:c.*81T>G (SYNE1)	XP_016866107.1:n.*81T>G
XM_017010619.1:c.24692T>G (SYNE1)	XP_016866108.1:p.Leu8231Arg
NM_182961.4:c.26270T>G (SYNE1) MANE Select	NP_892006.3:p.Leu8757Arg
NM_001328100.2:c.851-2706A>C (ESR1)	NP_001315029.1:n.851-2706A>C
NM_001347701.2:c.*81T>G (SYNE1)	NP_001334630.1:n.*81T>G
NM_001347702.2:c.2804T>G (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Leu935Arg
NM_033071.5:c.26126T>G (SYNE1)	NP_149062.2:p.Leu8709Arg