Canonical Allele Identifier: CA1673189071

Gene: SYNE1 ESR1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122609G= , CM000668.2:g.152122609G=	GRCh38
NC_000006.11:g.152443744G= , CM000668.1:g.152443744G=	GRCh37
NC_000006.10:g.152485437G=	NCBI36
NG_012855.1:g.519791C=
NG_008493.2:g.470919G=
NG_012855.2:g.519791C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000354674.5:c.2755C= (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Leu919=
ENST00000367255.10:c.26221C= (SYNE1) MANE Select	ENSP00000356224.5:p.Leu8741=
ENST00000423061.6:c.26077C= (SYNE1)	ENSP00000396024.1:p.Leu8693=
ENST00000672154.1:c.1564C= (SYNE1)
ENST00000672169.1:c.1939C= (SYNE1)
ENST00000673173.1:c.1806C= (SYNE1)
ENST00000673451.1:c.2071C= (SYNE1)	ENSP00000500189.1:n.2071C=
ENST00000341594.9:c.25006C= (SYNE1)	ENSP00000341887.6:p.Leu8336=
ENST00000347037.9:n.2969C= (SYNE1)
ENST00000354674.4:c.2755C= (SYNE1)	ENSP00000346701.4:p.Leu919=
ENST00000367251.7:c.4997C= (SYNE1)	ENSP00000356220.3:n.4997C=
ENST00000367255.9:c.26221C= (SYNE1)	ENSP00000356224.5:p.Leu8741=
ENST00000367256.9:n.9913C= (SYNE1)
ENST00000367257.8:c.4100C= (SYNE1)	ENSP00000356226.4:n.4100C=
ENST00000409694.6:n.9805C= (SYNE1)
ENST00000423061.5:c.26077C= (SYNE1)	ENSP00000396024.1:p.Leu8693=
ENST00000427531.6:c.851-2657G= (ESR1)	ENSP00000394721.2:n.851-2657G=
ENST00000460912.6:n.2835C= (SYNE1)
ENST00000478916.5:n.6858C= (SYNE1)
ENST00000536990.5:n.2999C= (SYNE1)
ENST00000539504.5:c.2686C= (SYNE1)	ENSP00000441052.1:p.Leu896=
NM_033071.3:c.26077C= (SYNE1)	NP_149062.1:p.Leu8693=
NM_182961.3:c.26221C= (SYNE1)	NP_892006.3:p.Leu8741=
XM_006715407.1:c.26368C= (SYNE1)	XP_006715470.1:p.Leu8790=
XM_006715408.1:c.26356C= (SYNE1)	XP_006715471.1:p.Leu8786=
XM_006715409.1:c.26347C= (SYNE1)	XP_006715472.1:p.Leu8783=
XM_006715410.1:c.26326C= (SYNE1)	XP_006715473.1:p.Leu8776=
XM_006715411.1:c.26317C= (SYNE1)	XP_006715474.1:p.Leu8773=
XM_006715412.1:c.26311C= (SYNE1)	XP_006715475.1:p.Leu8771=
XM_006715413.1:c.26299C= (SYNE1)	XP_006715476.1:p.Leu8767=
XM_006715414.1:c.26296C= (SYNE1)	XP_006715477.1:p.Leu8766=
XM_006715415.1:c.26257C= (SYNE1)	XP_006715478.1:p.Leu8753=
XM_006715416.1:c.26242C= (SYNE1)	XP_006715479.1:p.Leu8748=
XM_006715417.1:c.26227C= (SYNE1)	XP_006715480.1:p.Leu8743=
XM_006715420.1:c.26215C= (SYNE1)	XP_006715483.1:p.Leu8739=
XM_006715421.1:c.26212C= (SYNE1)	XP_006715484.1:p.Leu8738=
XM_006715422.1:c.26209C= (SYNE1)	XP_006715485.1:p.Leu8737=
XM_006715423.1:c.*32C= (SYNE1)	XP_006715486.1:n.*32C=
XM_006715424.1:c.*32C= (SYNE1)	XP_006715487.1:n.*32C=
XM_006715425.1:c.*32C= (SYNE1)	XP_006715488.1:n.*32C=
XM_011535641.1:c.26365C= (SYNE1)	XP_011533943.1:p.Leu8789=
XM_011535642.1:c.26353C= (SYNE1)	XP_011533944.1:p.Leu8785=
XM_011535643.1:c.26203C= (SYNE1)	XP_011533945.1:p.Leu8735=
XM_011535644.1:c.24643C= (SYNE1)	XP_011533946.1:p.Leu8215=
XM_011535645.1:c.24136C= (SYNE1)	XP_011533947.1:p.Leu8046=
XM_011535647.1:c.19603C= (SYNE1)	XP_011533949.1:p.Leu6535=
NM_001328100.1:c.851-2657G= (ESR1)	NP_001315029.1:n.851-2657G=
NM_001347701.1:c.*32C= (SYNE1)	NP_001334630.1:n.*32C=
NM_001347702.1:c.2755C= (SYNE1)	NP_001334631.1:p.Leu919=
XM_006715408.2:c.26356C= (SYNE1)	XP_006715471.1:p.Leu8786=
XM_006715410.2:c.26326C= (SYNE1)	XP_006715473.1:p.Leu8776=
XM_006715412.2:c.26311C= (SYNE1)	XP_006715475.1:p.Leu8771=
XM_006715413.2:c.26299C= (SYNE1)	XP_006715476.1:p.Leu8767=
XM_006715415.2:c.26257C= (SYNE1)	XP_006715478.1:p.Leu8753=
XM_006715416.2:c.26242C= (SYNE1)	XP_006715479.1:p.Leu8748=
XM_006715417.2:c.26227C= (SYNE1)	XP_006715480.1:p.Leu8743=
XM_006715420.2:c.26215C= (SYNE1)	XP_006715483.1:p.Leu8739=
XM_006715421.2:c.26212C= (SYNE1)	XP_006715484.1:p.Leu8738=
XM_006715423.2:c.*32C= (SYNE1)	XP_006715486.1:n.*32C=
XM_006715424.2:c.*32C= (SYNE1)	XP_006715487.1:n.*32C=
XM_006715425.2:c.*32C= (SYNE1)	XP_006715488.1:n.*32C=
XM_011535641.2:c.26365C= (SYNE1)	XP_011533943.1:p.Leu8789=
XM_011535642.2:c.26353C= (SYNE1)	XP_011533944.1:p.Leu8785=
XM_011535645.2:c.24136C= (SYNE1)	XP_011533947.1:p.Leu8046=
XM_017010608.1:c.26368C= (SYNE1)	XP_016866097.1:p.Leu8790=
XM_017010609.1:c.26368C= (SYNE1)	XP_016866098.1:p.Leu8790=
XM_017010610.1:c.26347C= (SYNE1)	XP_016866099.1:p.Leu8783=
XM_017010611.2:c.26341C= (SYNE1)	XP_016866100.1:p.Leu8781=
XM_017010612.1:c.26290C= (SYNE1)	XP_016866101.1:p.Leu8764=
XM_017010613.1:c.26254C= (SYNE1)	XP_016866102.1:p.Leu8752=
XM_017010614.1:c.26212C= (SYNE1)	XP_016866103.1:p.Leu8738=
XM_017010615.1:c.26101C= (SYNE1)	XP_016866104.1:p.Leu8701=
XM_017010616.1:c.*32C= (SYNE1)	XP_016866105.1:n.*32C=
XM_017010617.1:c.*32C= (SYNE1)	XP_016866106.1:n.*32C=
XM_017010618.1:c.*32C= (SYNE1)	XP_016866107.1:n.*32C=
XM_017010619.1:c.24643C= (SYNE1)	XP_016866108.1:p.Leu8215=
NM_182961.4:c.26221C= (SYNE1) MANE Select	NP_892006.3:p.Leu8741=
NM_001328100.2:c.851-2657G= (ESR1)	NP_001315029.1:n.851-2657G=
NM_001347701.2:c.*32C= (SYNE1)	NP_001334630.1:n.*32C=
NM_001347702.2:c.2755C= (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Leu919=
NM_033071.5:c.26077C= (SYNE1)	NP_149062.2:p.Leu8693=