Canonical Allele Identifier: CA366088889

Gene: SYNE1 ESR1

Linked Data

• gnomAD v4: 6-152122561-G-T
• MyVariant Identifiers: chr6:g.152443696G>T (hg19) ; chr6:g.152122561G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122561G>T , CM000668.2:g.152122561G>T	GRCh38
NC_000006.11:g.152443696G>T , CM000668.1:g.152443696G>T	GRCh37
NC_000006.10:g.152485389G>T	NCBI36
NG_012855.1:g.519839C>A
NG_008493.2:g.470871G>T
NG_012855.2:g.519839C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2803C>A (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Leu935Ile
ENST00000367255.10:c.26269C>A (SYNE1) MANE Select	ENSP00000356224.5:p.Leu8757Ile
ENST00000423061.6:c.26125C>A (SYNE1)	ENSP00000396024.1:p.Leu8709Ile
ENST00000672154.1:c.1612C>A (SYNE1)
ENST00000672169.1:c.1987C>A (SYNE1)
ENST00000673173.1:c.1854C>A (SYNE1)
ENST00000673451.1:c.2119C>A (SYNE1)	ENSP00000500189.1:n.2119C>A
ENST00000341594.9:c.25054C>A (SYNE1)	ENSP00000341887.6:p.Leu8352Ile
ENST00000347037.9:n.3017C>A (SYNE1)
ENST00000354674.4:c.2803C>A (SYNE1)	ENSP00000346701.4:p.Leu935Ile
ENST00000367251.7:c.5045C>A (SYNE1)	ENSP00000356220.3:n.5045C>A
ENST00000367255.9:c.26269C>A (SYNE1)	ENSP00000356224.5:p.Leu8757Ile
ENST00000367256.9:n.9961C>A (SYNE1)
ENST00000367257.8:c.4148C>A (SYNE1)	ENSP00000356226.4:n.4148C>A
ENST00000409694.6:n.9853C>A (SYNE1)
ENST00000423061.5:c.26125C>A (SYNE1)	ENSP00000396024.1:p.Leu8709Ile
ENST00000427531.6:c.851-2705G>T (ESR1)	ENSP00000394721.2:n.851-2705G>T
ENST00000460912.6:n.2883C>A (SYNE1)
ENST00000478916.5:n.6906C>A (SYNE1)
ENST00000539504.5:c.2734C>A (SYNE1)	ENSP00000441052.1:p.Leu912Ile
NM_033071.3:c.26125C>A (SYNE1)	NP_149062.1:p.Leu8709Ile
NM_182961.3:c.26269C>A (SYNE1)	NP_892006.3:p.Leu8757Ile
XM_006715407.1:c.26416C>A (SYNE1)	XP_006715470.1:p.Leu8806Ile
XM_006715408.1:c.26404C>A (SYNE1)	XP_006715471.1:p.Leu8802Ile
XM_006715409.1:c.26395C>A (SYNE1)	XP_006715472.1:p.Leu8799Ile
XM_006715410.1:c.26374C>A (SYNE1)	XP_006715473.1:p.Leu8792Ile
XM_006715411.1:c.26365C>A (SYNE1)	XP_006715474.1:p.Leu8789Ile
XM_006715412.1:c.26359C>A (SYNE1)	XP_006715475.1:p.Leu8787Ile
XM_006715413.1:c.26347C>A (SYNE1)	XP_006715476.1:p.Leu8783Ile
XM_006715414.1:c.26344C>A (SYNE1)	XP_006715477.1:p.Leu8782Ile
XM_006715415.1:c.26305C>A (SYNE1)	XP_006715478.1:p.Leu8769Ile
XM_006715416.1:c.26290C>A (SYNE1)	XP_006715479.1:p.Leu8764Ile
XM_006715417.1:c.26275C>A (SYNE1)	XP_006715480.1:p.Leu8759Ile
XM_006715420.1:c.26263C>A (SYNE1)	XP_006715483.1:p.Leu8755Ile
XM_006715421.1:c.26260C>A (SYNE1)	XP_006715484.1:p.Leu8754Ile
XM_006715422.1:c.26257C>A (SYNE1)	XP_006715485.1:p.Leu8753Ile
XM_006715423.1:c.*80C>A (SYNE1)	XP_006715486.1:n.*80C>A
XM_006715424.1:c.*80C>A (SYNE1)	XP_006715487.1:n.*80C>A
XM_006715425.1:c.*80C>A (SYNE1)	XP_006715488.1:n.*80C>A
XM_011535641.1:c.26413C>A (SYNE1)	XP_011533943.1:p.Leu8805Ile
XM_011535642.1:c.26401C>A (SYNE1)	XP_011533944.1:p.Leu8801Ile
XM_011535643.1:c.26251C>A (SYNE1)	XP_011533945.1:p.Leu8751Ile
XM_011535644.1:c.24691C>A (SYNE1)	XP_011533946.1:p.Leu8231Ile
XM_011535645.1:c.24184C>A (SYNE1)	XP_011533947.1:p.Leu8062Ile
XM_011535647.1:c.19651C>A (SYNE1)	XP_011533949.1:p.Leu6551Ile
NM_001328100.1:c.851-2705G>T (ESR1)	NP_001315029.1:n.851-2705G>T
NM_001347701.1:c.*80C>A (SYNE1)	NP_001334630.1:n.*80C>A
NM_001347702.1:c.2803C>A (SYNE1)	NP_001334631.1:p.Leu935Ile
XM_006715408.2:c.26404C>A (SYNE1)	XP_006715471.1:p.Leu8802Ile
XM_006715410.2:c.26374C>A (SYNE1)	XP_006715473.1:p.Leu8792Ile
XM_006715412.2:c.26359C>A (SYNE1)	XP_006715475.1:p.Leu8787Ile
XM_006715413.2:c.26347C>A (SYNE1)	XP_006715476.1:p.Leu8783Ile
XM_006715415.2:c.26305C>A (SYNE1)	XP_006715478.1:p.Leu8769Ile
XM_006715416.2:c.26290C>A (SYNE1)	XP_006715479.1:p.Leu8764Ile
XM_006715417.2:c.26275C>A (SYNE1)	XP_006715480.1:p.Leu8759Ile
XM_006715420.2:c.26263C>A (SYNE1)	XP_006715483.1:p.Leu8755Ile
XM_006715421.2:c.26260C>A (SYNE1)	XP_006715484.1:p.Leu8754Ile
XM_006715423.2:c.*80C>A (SYNE1)	XP_006715486.1:n.*80C>A
XM_006715424.2:c.*80C>A (SYNE1)	XP_006715487.1:n.*80C>A
XM_006715425.2:c.*80C>A (SYNE1)	XP_006715488.1:n.*80C>A
XM_011535641.2:c.26413C>A (SYNE1)	XP_011533943.1:p.Leu8805Ile
XM_011535642.2:c.26401C>A (SYNE1)	XP_011533944.1:p.Leu8801Ile
XM_011535645.2:c.24184C>A (SYNE1)	XP_011533947.1:p.Leu8062Ile
XM_017010608.1:c.26416C>A (SYNE1)	XP_016866097.1:p.Leu8806Ile
XM_017010609.1:c.26416C>A (SYNE1)	XP_016866098.1:p.Leu8806Ile
XM_017010610.1:c.26395C>A (SYNE1)	XP_016866099.1:p.Leu8799Ile
XM_017010611.2:c.26389C>A (SYNE1)	XP_016866100.1:p.Leu8797Ile
XM_017010612.1:c.26338C>A (SYNE1)	XP_016866101.1:p.Leu8780Ile
XM_017010613.1:c.26302C>A (SYNE1)	XP_016866102.1:p.Leu8768Ile
XM_017010614.1:c.26260C>A (SYNE1)	XP_016866103.1:p.Leu8754Ile
XM_017010615.1:c.26149C>A (SYNE1)	XP_016866104.1:p.Leu8717Ile
XM_017010616.1:c.*80C>A (SYNE1)	XP_016866105.1:n.*80C>A
XM_017010617.1:c.*80C>A (SYNE1)	XP_016866106.1:n.*80C>A
XM_017010618.1:c.*80C>A (SYNE1)	XP_016866107.1:n.*80C>A
XM_017010619.1:c.24691C>A (SYNE1)	XP_016866108.1:p.Leu8231Ile
NM_182961.4:c.26269C>A (SYNE1) MANE Select	NP_892006.3:p.Leu8757Ile
NM_001328100.2:c.851-2705G>T (ESR1)	NP_001315029.1:n.851-2705G>T
NM_001347701.2:c.*80C>A (SYNE1)	NP_001334630.1:n.*80C>A
NM_001347702.2:c.2803C>A (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Leu935Ile
NM_033071.5:c.26125C>A (SYNE1)	NP_149062.2:p.Leu8709Ile