Canonical Allele Identifier: CA452969394

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443580A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122445A>C , CM000668.2:g.152122445A>C	GRCh38
NC_000006.11:g.152443580A>C , CM000668.1:g.152443580A>C	GRCh37
NC_000006.10:g.152485273A>C	NCBI36
NG_012855.1:g.519955T>G
NG_008493.2:g.470755A>C
NG_012855.2:g.519955T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2919T>G (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Pro973=
ENST00000367255.10:c.26385T>G (SYNE1) MANE Select	ENSP00000356224.5:p.Pro8795=
ENST00000423061.6:c.26241T>G (SYNE1)	ENSP00000396024.1:p.Pro8747=
ENST00000672154.1:c.1728T>G (SYNE1)
ENST00000672169.1:c.2103T>G (SYNE1)
ENST00000673173.1:c.1970T>G (SYNE1)
ENST00000673451.1:c.2235T>G (SYNE1)	ENSP00000500189.1:n.2235T>G
ENST00000341594.9:c.25170T>G (SYNE1)	ENSP00000341887.6:p.Pro8390=
ENST00000347037.9:n.3133T>G (SYNE1)
ENST00000354674.4:c.2919T>G (SYNE1)	ENSP00000346701.4:p.Pro973=
ENST00000367251.7:c.5161T>G (SYNE1)	ENSP00000356220.3:n.5161T>G
ENST00000367255.9:c.26385T>G (SYNE1)	ENSP00000356224.5:p.Pro8795=
ENST00000367256.9:n.10077T>G (SYNE1)
ENST00000367257.8:c.4264T>G (SYNE1)	ENSP00000356226.4:n.4264T>G
ENST00000409694.6:n.9969T>G (SYNE1)
ENST00000423061.5:c.26241T>G (SYNE1)	ENSP00000396024.1:p.Pro8747=
ENST00000427531.6:c.851-2821A>C (ESR1)	ENSP00000394721.2:n.851-2821A>C
ENST00000460912.6:n.2999T>G (SYNE1)
ENST00000478916.5:n.7022T>G (SYNE1)
ENST00000539504.5:c.2850T>G (SYNE1)	ENSP00000441052.1:p.Pro950=
NM_033071.3:c.26241T>G (SYNE1)	NP_149062.1:p.Pro8747=
NM_182961.3:c.26385T>G (SYNE1)	NP_892006.3:p.Pro8795=
XM_006715407.1:c.26532T>G (SYNE1)	XP_006715470.1:p.Pro8844=
XM_006715408.1:c.26520T>G (SYNE1)	XP_006715471.1:p.Pro8840=
XM_006715409.1:c.26511T>G (SYNE1)	XP_006715472.1:p.Pro8837=
XM_006715410.1:c.26490T>G (SYNE1)	XP_006715473.1:p.Pro8830=
XM_006715411.1:c.26481T>G (SYNE1)	XP_006715474.1:p.Pro8827=
XM_006715412.1:c.26475T>G (SYNE1)	XP_006715475.1:p.Pro8825=
XM_006715413.1:c.26463T>G (SYNE1)	XP_006715476.1:p.Pro8821=
XM_006715414.1:c.26460T>G (SYNE1)	XP_006715477.1:p.Pro8820=
XM_006715415.1:c.26421T>G (SYNE1)	XP_006715478.1:p.Pro8807=
XM_006715416.1:c.26406T>G (SYNE1)	XP_006715479.1:p.Pro8802=
XM_006715417.1:c.26391T>G (SYNE1)	XP_006715480.1:p.Pro8797=
XM_006715420.1:c.26379T>G (SYNE1)	XP_006715483.1:p.Pro8793=
XM_006715421.1:c.26376T>G (SYNE1)	XP_006715484.1:p.Pro8792=
XM_006715422.1:c.26373T>G (SYNE1)	XP_006715485.1:p.Pro8791=
XM_006715423.1:c.*196T>G (SYNE1)	XP_006715486.1:n.*196T>G
XM_006715424.1:c.*196T>G (SYNE1)	XP_006715487.1:n.*196T>G
XM_006715425.1:c.*196T>G (SYNE1)	XP_006715488.1:n.*196T>G
XM_011535641.1:c.26529T>G (SYNE1)	XP_011533943.1:p.Pro8843=
XM_011535642.1:c.26517T>G (SYNE1)	XP_011533944.1:p.Pro8839=
XM_011535643.1:c.26367T>G (SYNE1)	XP_011533945.1:p.Pro8789=
XM_011535644.1:c.24807T>G (SYNE1)	XP_011533946.1:p.Pro8269=
XM_011535645.1:c.24300T>G (SYNE1)	XP_011533947.1:p.Pro8100=
XM_011535647.1:c.19767T>G (SYNE1)	XP_011533949.1:p.Pro6589=
NM_001328100.1:c.851-2821A>C (ESR1)	NP_001315029.1:n.851-2821A>C
NM_001347701.1:c.*196T>G (SYNE1)	NP_001334630.1:n.*196T>G
NM_001347702.1:c.2919T>G (SYNE1)	NP_001334631.1:p.Pro973=
XM_006715408.2:c.26520T>G (SYNE1)	XP_006715471.1:p.Pro8840=
XM_006715410.2:c.26490T>G (SYNE1)	XP_006715473.1:p.Pro8830=
XM_006715412.2:c.26475T>G (SYNE1)	XP_006715475.1:p.Pro8825=
XM_006715413.2:c.26463T>G (SYNE1)	XP_006715476.1:p.Pro8821=
XM_006715415.2:c.26421T>G (SYNE1)	XP_006715478.1:p.Pro8807=
XM_006715416.2:c.26406T>G (SYNE1)	XP_006715479.1:p.Pro8802=
XM_006715417.2:c.26391T>G (SYNE1)	XP_006715480.1:p.Pro8797=
XM_006715420.2:c.26379T>G (SYNE1)	XP_006715483.1:p.Pro8793=
XM_006715421.2:c.26376T>G (SYNE1)	XP_006715484.1:p.Pro8792=
XM_006715423.2:c.*196T>G (SYNE1)	XP_006715486.1:n.*196T>G
XM_006715424.2:c.*196T>G (SYNE1)	XP_006715487.1:n.*196T>G
XM_006715425.2:c.*196T>G (SYNE1)	XP_006715488.1:n.*196T>G
XM_011535641.2:c.26529T>G (SYNE1)	XP_011533943.1:p.Pro8843=
XM_011535642.2:c.26517T>G (SYNE1)	XP_011533944.1:p.Pro8839=
XM_011535645.2:c.24300T>G (SYNE1)	XP_011533947.1:p.Pro8100=
XM_017010608.1:c.26532T>G (SYNE1)	XP_016866097.1:p.Pro8844=
XM_017010609.1:c.26532T>G (SYNE1)	XP_016866098.1:p.Pro8844=
XM_017010610.1:c.26511T>G (SYNE1)	XP_016866099.1:p.Pro8837=
XM_017010611.2:c.26505T>G (SYNE1)	XP_016866100.1:p.Pro8835=
XM_017010612.1:c.26454T>G (SYNE1)	XP_016866101.1:p.Pro8818=
XM_017010613.1:c.26418T>G (SYNE1)	XP_016866102.1:p.Pro8806=
XM_017010614.1:c.26376T>G (SYNE1)	XP_016866103.1:p.Pro8792=
XM_017010615.1:c.26265T>G (SYNE1)	XP_016866104.1:p.Pro8755=
XM_017010616.1:c.*196T>G (SYNE1)	XP_016866105.1:n.*196T>G
XM_017010617.1:c.*196T>G (SYNE1)	XP_016866106.1:n.*196T>G
XM_017010618.1:c.*196T>G (SYNE1)	XP_016866107.1:n.*196T>G
XM_017010619.1:c.24807T>G (SYNE1)	XP_016866108.1:p.Pro8269=
NM_182961.4:c.26385T>G (SYNE1) MANE Select	NP_892006.3:p.Pro8795=
NM_001328100.2:c.851-2821A>C (ESR1)	NP_001315029.1:n.851-2821A>C
NM_001347701.2:c.*196T>G (SYNE1)	NP_001334630.1:n.*196T>G
NM_001347702.2:c.2919T>G (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Pro973=
NM_033071.5:c.26241T>G (SYNE1)	NP_149062.2:p.Pro8747=