Canonical Allele Identifier: CA366089147

Gene: SYNE1 ESR1

Linked Data

• dbSNP Id: rs2295192
• gnomAD v3: 6-152122626-C-G
• gnomAD v4: 6-152122626-C-G
• MyVariant Identifiers: chr6:g.152443761C>G (hg19) ; chr6:g.152122626C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122626C>G , CM000668.2:g.152122626C>G	GRCh38
NC_000006.11:g.152443761C>G , CM000668.1:g.152443761C>G	GRCh37
NC_000006.10:g.152485454C>G	NCBI36
NG_012855.1:g.519774G>C
NG_008493.2:g.470936C>G
NG_012855.2:g.519774G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2738G>C (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Arg913Pro
ENST00000367255.10:c.26204G>C (SYNE1) MANE Select	ENSP00000356224.5:p.Arg8735Pro
ENST00000423061.6:c.26060G>C (SYNE1)	ENSP00000396024.1:p.Arg8687Pro
ENST00000672154.1:c.1547G>C (SYNE1)
ENST00000672169.1:c.1922G>C (SYNE1)
ENST00000673173.1:c.1789G>C (SYNE1)
ENST00000673451.1:c.2054G>C (SYNE1)	ENSP00000500189.1:n.2054G>C
ENST00000341594.9:c.24989G>C (SYNE1)	ENSP00000341887.6:p.Arg8330Pro
ENST00000347037.9:n.2952G>C (SYNE1)
ENST00000354674.4:c.2738G>C (SYNE1)	ENSP00000346701.4:p.Arg913Pro
ENST00000367251.7:c.4980G>C (SYNE1)	ENSP00000356220.3:n.4980G>C
ENST00000367255.9:c.26204G>C (SYNE1)	ENSP00000356224.5:p.Arg8735Pro
ENST00000367256.9:n.9896G>C (SYNE1)
ENST00000367257.8:c.4083G>C (SYNE1)	ENSP00000356226.4:n.4083G>C
ENST00000409694.6:n.9788G>C (SYNE1)
ENST00000423061.5:c.26060G>C (SYNE1)	ENSP00000396024.1:p.Arg8687Pro
ENST00000427531.6:c.851-2640C>G (ESR1)	ENSP00000394721.2:n.851-2640C>G
ENST00000460912.6:n.2818G>C (SYNE1)
ENST00000478916.5:n.6841G>C (SYNE1)
ENST00000536990.5:n.2982G>C (SYNE1)
ENST00000539504.5:c.2669G>C (SYNE1)	ENSP00000441052.1:p.Arg890Pro
NM_033071.3:c.26060G>C (SYNE1)	NP_149062.1:p.Arg8687Pro
NM_182961.3:c.26204G>C (SYNE1)	NP_892006.3:p.Arg8735Pro
XM_006715407.1:c.26351G>C (SYNE1)	XP_006715470.1:p.Arg8784Pro
XM_006715408.1:c.26339G>C (SYNE1)	XP_006715471.1:p.Arg8780Pro
XM_006715409.1:c.26330G>C (SYNE1)	XP_006715472.1:p.Arg8777Pro
XM_006715410.1:c.26309G>C (SYNE1)	XP_006715473.1:p.Arg8770Pro
XM_006715411.1:c.26300G>C (SYNE1)	XP_006715474.1:p.Arg8767Pro
XM_006715412.1:c.26294G>C (SYNE1)	XP_006715475.1:p.Arg8765Pro
XM_006715413.1:c.26282G>C (SYNE1)	XP_006715476.1:p.Arg8761Pro
XM_006715414.1:c.26279G>C (SYNE1)	XP_006715477.1:p.Arg8760Pro
XM_006715415.1:c.26240G>C (SYNE1)	XP_006715478.1:p.Arg8747Pro
XM_006715416.1:c.26225G>C (SYNE1)	XP_006715479.1:p.Arg8742Pro
XM_006715417.1:c.26210G>C (SYNE1)	XP_006715480.1:p.Arg8737Pro
XM_006715420.1:c.26198G>C (SYNE1)	XP_006715483.1:p.Arg8733Pro
XM_006715421.1:c.26195G>C (SYNE1)	XP_006715484.1:p.Arg8732Pro
XM_006715422.1:c.26192G>C (SYNE1)	XP_006715485.1:p.Arg8731Pro
XM_006715423.1:c.*15G>C (SYNE1)	XP_006715486.1:n.*15G>C
XM_006715424.1:c.*15G>C (SYNE1)	XP_006715487.1:n.*15G>C
XM_006715425.1:c.*15G>C (SYNE1)	XP_006715488.1:n.*15G>C
XM_011535641.1:c.26348G>C (SYNE1)	XP_011533943.1:p.Arg8783Pro
XM_011535642.1:c.26336G>C (SYNE1)	XP_011533944.1:p.Arg8779Pro
XM_011535643.1:c.26186G>C (SYNE1)	XP_011533945.1:p.Arg8729Pro
XM_011535644.1:c.24626G>C (SYNE1)	XP_011533946.1:p.Arg8209Pro
XM_011535645.1:c.24119G>C (SYNE1)	XP_011533947.1:p.Arg8040Pro
XM_011535647.1:c.19586G>C (SYNE1)	XP_011533949.1:p.Arg6529Pro
NM_001328100.1:c.851-2640C>G (ESR1)	NP_001315029.1:n.851-2640C>G
NM_001347701.1:c.*15G>C (SYNE1)	NP_001334630.1:n.*15G>C
NM_001347702.1:c.2738G>C (SYNE1)	NP_001334631.1:p.Arg913Pro
XM_006715408.2:c.26339G>C (SYNE1)	XP_006715471.1:p.Arg8780Pro
XM_006715410.2:c.26309G>C (SYNE1)	XP_006715473.1:p.Arg8770Pro
XM_006715412.2:c.26294G>C (SYNE1)	XP_006715475.1:p.Arg8765Pro
XM_006715413.2:c.26282G>C (SYNE1)	XP_006715476.1:p.Arg8761Pro
XM_006715415.2:c.26240G>C (SYNE1)	XP_006715478.1:p.Arg8747Pro
XM_006715416.2:c.26225G>C (SYNE1)	XP_006715479.1:p.Arg8742Pro
XM_006715417.2:c.26210G>C (SYNE1)	XP_006715480.1:p.Arg8737Pro
XM_006715420.2:c.26198G>C (SYNE1)	XP_006715483.1:p.Arg8733Pro
XM_006715421.2:c.26195G>C (SYNE1)	XP_006715484.1:p.Arg8732Pro
XM_006715423.2:c.*15G>C (SYNE1)	XP_006715486.1:n.*15G>C
XM_006715424.2:c.*15G>C (SYNE1)	XP_006715487.1:n.*15G>C
XM_006715425.2:c.*15G>C (SYNE1)	XP_006715488.1:n.*15G>C
XM_011535641.2:c.26348G>C (SYNE1)	XP_011533943.1:p.Arg8783Pro
XM_011535642.2:c.26336G>C (SYNE1)	XP_011533944.1:p.Arg8779Pro
XM_011535645.2:c.24119G>C (SYNE1)	XP_011533947.1:p.Arg8040Pro
XM_017010608.1:c.26351G>C (SYNE1)	XP_016866097.1:p.Arg8784Pro
XM_017010609.1:c.26351G>C (SYNE1)	XP_016866098.1:p.Arg8784Pro
XM_017010610.1:c.26330G>C (SYNE1)	XP_016866099.1:p.Arg8777Pro
XM_017010611.2:c.26324G>C (SYNE1)	XP_016866100.1:p.Arg8775Pro
XM_017010612.1:c.26273G>C (SYNE1)	XP_016866101.1:p.Arg8758Pro
XM_017010613.1:c.26237G>C (SYNE1)	XP_016866102.1:p.Arg8746Pro
XM_017010614.1:c.26195G>C (SYNE1)	XP_016866103.1:p.Arg8732Pro
XM_017010615.1:c.26084G>C (SYNE1)	XP_016866104.1:p.Arg8695Pro
XM_017010616.1:c.*15G>C (SYNE1)	XP_016866105.1:n.*15G>C
XM_017010617.1:c.*15G>C (SYNE1)	XP_016866106.1:n.*15G>C
XM_017010618.1:c.*15G>C (SYNE1)	XP_016866107.1:n.*15G>C
XM_017010619.1:c.24626G>C (SYNE1)	XP_016866108.1:p.Arg8209Pro
NM_182961.4:c.26204G>C (SYNE1) MANE Select	NP_892006.3:p.Arg8735Pro
NM_001328100.2:c.851-2640C>G (ESR1)	NP_001315029.1:n.851-2640C>G
NM_001347701.2:c.*15G>C (SYNE1)	NP_001334630.1:n.*15G>C
NM_001347702.2:c.2738G>C (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Arg913Pro
NM_033071.5:c.26060G>C (SYNE1)	NP_149062.2:p.Arg8687Pro