Canonical Allele Identifier: CA366088992

Gene: SYNE1 ESR1

Linked Data

• gnomAD v4: 6-152122585-G-T
• MyVariant Identifiers: chr6:g.152443720G>T (hg19) ; chr6:g.152122585G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122585G>T , CM000668.2:g.152122585G>T	GRCh38
NC_000006.11:g.152443720G>T , CM000668.1:g.152443720G>T	GRCh37
NC_000006.10:g.152485413G>T	NCBI36
NG_012855.1:g.519815C>A
NG_008493.2:g.470895G>T
NG_012855.2:g.519815C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2779C>A (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Leu927Ile
ENST00000367255.10:c.26245C>A (SYNE1) MANE Select	ENSP00000356224.5:p.Leu8749Ile
ENST00000423061.6:c.26101C>A (SYNE1)	ENSP00000396024.1:p.Leu8701Ile
ENST00000672154.1:c.1588C>A (SYNE1)
ENST00000672169.1:c.1963C>A (SYNE1)
ENST00000673173.1:c.1830C>A (SYNE1)
ENST00000673451.1:c.2095C>A (SYNE1)	ENSP00000500189.1:n.2095C>A
ENST00000341594.9:c.25030C>A (SYNE1)	ENSP00000341887.6:p.Leu8344Ile
ENST00000347037.9:n.2993C>A (SYNE1)
ENST00000354674.4:c.2779C>A (SYNE1)	ENSP00000346701.4:p.Leu927Ile
ENST00000367251.7:c.5021C>A (SYNE1)	ENSP00000356220.3:n.5021C>A
ENST00000367255.9:c.26245C>A (SYNE1)	ENSP00000356224.5:p.Leu8749Ile
ENST00000367256.9:n.9937C>A (SYNE1)
ENST00000367257.8:c.4124C>A (SYNE1)	ENSP00000356226.4:n.4124C>A
ENST00000409694.6:n.9829C>A (SYNE1)
ENST00000423061.5:c.26101C>A (SYNE1)	ENSP00000396024.1:p.Leu8701Ile
ENST00000427531.6:c.851-2681G>T (ESR1)	ENSP00000394721.2:n.851-2681G>T
ENST00000460912.6:n.2859C>A (SYNE1)
ENST00000478916.5:n.6882C>A (SYNE1)
ENST00000539504.5:c.2710C>A (SYNE1)	ENSP00000441052.1:p.Leu904Ile
NM_033071.3:c.26101C>A (SYNE1)	NP_149062.1:p.Leu8701Ile
NM_182961.3:c.26245C>A (SYNE1)	NP_892006.3:p.Leu8749Ile
XM_006715407.1:c.26392C>A (SYNE1)	XP_006715470.1:p.Leu8798Ile
XM_006715408.1:c.26380C>A (SYNE1)	XP_006715471.1:p.Leu8794Ile
XM_006715409.1:c.26371C>A (SYNE1)	XP_006715472.1:p.Leu8791Ile
XM_006715410.1:c.26350C>A (SYNE1)	XP_006715473.1:p.Leu8784Ile
XM_006715411.1:c.26341C>A (SYNE1)	XP_006715474.1:p.Leu8781Ile
XM_006715412.1:c.26335C>A (SYNE1)	XP_006715475.1:p.Leu8779Ile
XM_006715413.1:c.26323C>A (SYNE1)	XP_006715476.1:p.Leu8775Ile
XM_006715414.1:c.26320C>A (SYNE1)	XP_006715477.1:p.Leu8774Ile
XM_006715415.1:c.26281C>A (SYNE1)	XP_006715478.1:p.Leu8761Ile
XM_006715416.1:c.26266C>A (SYNE1)	XP_006715479.1:p.Leu8756Ile
XM_006715417.1:c.26251C>A (SYNE1)	XP_006715480.1:p.Leu8751Ile
XM_006715420.1:c.26239C>A (SYNE1)	XP_006715483.1:p.Leu8747Ile
XM_006715421.1:c.26236C>A (SYNE1)	XP_006715484.1:p.Leu8746Ile
XM_006715422.1:c.26233C>A (SYNE1)	XP_006715485.1:p.Leu8745Ile
XM_006715423.1:c.*56C>A (SYNE1)	XP_006715486.1:n.*56C>A
XM_006715424.1:c.*56C>A (SYNE1)	XP_006715487.1:n.*56C>A
XM_006715425.1:c.*56C>A (SYNE1)	XP_006715488.1:n.*56C>A
XM_011535641.1:c.26389C>A (SYNE1)	XP_011533943.1:p.Leu8797Ile
XM_011535642.1:c.26377C>A (SYNE1)	XP_011533944.1:p.Leu8793Ile
XM_011535643.1:c.26227C>A (SYNE1)	XP_011533945.1:p.Leu8743Ile
XM_011535644.1:c.24667C>A (SYNE1)	XP_011533946.1:p.Leu8223Ile
XM_011535645.1:c.24160C>A (SYNE1)	XP_011533947.1:p.Leu8054Ile
XM_011535647.1:c.19627C>A (SYNE1)	XP_011533949.1:p.Leu6543Ile
NM_001328100.1:c.851-2681G>T (ESR1)	NP_001315029.1:n.851-2681G>T
NM_001347701.1:c.*56C>A (SYNE1)	NP_001334630.1:n.*56C>A
NM_001347702.1:c.2779C>A (SYNE1)	NP_001334631.1:p.Leu927Ile
XM_006715408.2:c.26380C>A (SYNE1)	XP_006715471.1:p.Leu8794Ile
XM_006715410.2:c.26350C>A (SYNE1)	XP_006715473.1:p.Leu8784Ile
XM_006715412.2:c.26335C>A (SYNE1)	XP_006715475.1:p.Leu8779Ile
XM_006715413.2:c.26323C>A (SYNE1)	XP_006715476.1:p.Leu8775Ile
XM_006715415.2:c.26281C>A (SYNE1)	XP_006715478.1:p.Leu8761Ile
XM_006715416.2:c.26266C>A (SYNE1)	XP_006715479.1:p.Leu8756Ile
XM_006715417.2:c.26251C>A (SYNE1)	XP_006715480.1:p.Leu8751Ile
XM_006715420.2:c.26239C>A (SYNE1)	XP_006715483.1:p.Leu8747Ile
XM_006715421.2:c.26236C>A (SYNE1)	XP_006715484.1:p.Leu8746Ile
XM_006715423.2:c.*56C>A (SYNE1)	XP_006715486.1:n.*56C>A
XM_006715424.2:c.*56C>A (SYNE1)	XP_006715487.1:n.*56C>A
XM_006715425.2:c.*56C>A (SYNE1)	XP_006715488.1:n.*56C>A
XM_011535641.2:c.26389C>A (SYNE1)	XP_011533943.1:p.Leu8797Ile
XM_011535642.2:c.26377C>A (SYNE1)	XP_011533944.1:p.Leu8793Ile
XM_011535645.2:c.24160C>A (SYNE1)	XP_011533947.1:p.Leu8054Ile
XM_017010608.1:c.26392C>A (SYNE1)	XP_016866097.1:p.Leu8798Ile
XM_017010609.1:c.26392C>A (SYNE1)	XP_016866098.1:p.Leu8798Ile
XM_017010610.1:c.26371C>A (SYNE1)	XP_016866099.1:p.Leu8791Ile
XM_017010611.2:c.26365C>A (SYNE1)	XP_016866100.1:p.Leu8789Ile
XM_017010612.1:c.26314C>A (SYNE1)	XP_016866101.1:p.Leu8772Ile
XM_017010613.1:c.26278C>A (SYNE1)	XP_016866102.1:p.Leu8760Ile
XM_017010614.1:c.26236C>A (SYNE1)	XP_016866103.1:p.Leu8746Ile
XM_017010615.1:c.26125C>A (SYNE1)	XP_016866104.1:p.Leu8709Ile
XM_017010616.1:c.*56C>A (SYNE1)	XP_016866105.1:n.*56C>A
XM_017010617.1:c.*56C>A (SYNE1)	XP_016866106.1:n.*56C>A
XM_017010618.1:c.*56C>A (SYNE1)	XP_016866107.1:n.*56C>A
XM_017010619.1:c.24667C>A (SYNE1)	XP_016866108.1:p.Leu8223Ile
NM_182961.4:c.26245C>A (SYNE1) MANE Select	NP_892006.3:p.Leu8749Ile
NM_001328100.2:c.851-2681G>T (ESR1)	NP_001315029.1:n.851-2681G>T
NM_001347701.2:c.*56C>A (SYNE1)	NP_001334630.1:n.*56C>A
NM_001347702.2:c.2779C>A (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Leu927Ile
NM_033071.5:c.26101C>A (SYNE1)	NP_149062.2:p.Leu8701Ile