Canonical Allele Identifier: CA366088484

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443602A>C (hg19) ; chr6:g.152122467A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122467A>C , CM000668.2:g.152122467A>C	GRCh38
NC_000006.11:g.152443602A>C , CM000668.1:g.152443602A>C	GRCh37
NC_000006.10:g.152485295A>C	NCBI36
NG_012855.1:g.519933T>G
NG_008493.2:g.470777A>C
NG_012855.2:g.519933T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2897T>G (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Leu966Arg
ENST00000367255.10:c.26363T>G (SYNE1) MANE Select	ENSP00000356224.5:p.Leu8788Arg
ENST00000423061.6:c.26219T>G (SYNE1)	ENSP00000396024.1:p.Leu8740Arg
ENST00000672154.1:c.1706T>G (SYNE1)
ENST00000672169.1:c.2081T>G (SYNE1)
ENST00000673173.1:c.1948T>G (SYNE1)
ENST00000673451.1:c.2213T>G (SYNE1)	ENSP00000500189.1:n.2213T>G
ENST00000341594.9:c.25148T>G (SYNE1)	ENSP00000341887.6:p.Leu8383Arg
ENST00000347037.9:n.3111T>G (SYNE1)
ENST00000354674.4:c.2897T>G (SYNE1)	ENSP00000346701.4:p.Leu966Arg
ENST00000367251.7:c.5139T>G (SYNE1)	ENSP00000356220.3:n.5139T>G
ENST00000367255.9:c.26363T>G (SYNE1)	ENSP00000356224.5:p.Leu8788Arg
ENST00000367256.9:n.10055T>G (SYNE1)
ENST00000367257.8:c.4242T>G (SYNE1)	ENSP00000356226.4:n.4242T>G
ENST00000409694.6:n.9947T>G (SYNE1)
ENST00000423061.5:c.26219T>G (SYNE1)	ENSP00000396024.1:p.Leu8740Arg
ENST00000427531.6:c.851-2799A>C (ESR1)	ENSP00000394721.2:n.851-2799A>C
ENST00000460912.6:n.2977T>G (SYNE1)
ENST00000478916.5:n.7000T>G (SYNE1)
ENST00000539504.5:c.2828T>G (SYNE1)	ENSP00000441052.1:p.Leu943Arg
NM_033071.3:c.26219T>G (SYNE1)	NP_149062.1:p.Leu8740Arg
NM_182961.3:c.26363T>G (SYNE1)	NP_892006.3:p.Leu8788Arg
XM_006715407.1:c.26510T>G (SYNE1)	XP_006715470.1:p.Leu8837Arg
XM_006715408.1:c.26498T>G (SYNE1)	XP_006715471.1:p.Leu8833Arg
XM_006715409.1:c.26489T>G (SYNE1)	XP_006715472.1:p.Leu8830Arg
XM_006715410.1:c.26468T>G (SYNE1)	XP_006715473.1:p.Leu8823Arg
XM_006715411.1:c.26459T>G (SYNE1)	XP_006715474.1:p.Leu8820Arg
XM_006715412.1:c.26453T>G (SYNE1)	XP_006715475.1:p.Leu8818Arg
XM_006715413.1:c.26441T>G (SYNE1)	XP_006715476.1:p.Leu8814Arg
XM_006715414.1:c.26438T>G (SYNE1)	XP_006715477.1:p.Leu8813Arg
XM_006715415.1:c.26399T>G (SYNE1)	XP_006715478.1:p.Leu8800Arg
XM_006715416.1:c.26384T>G (SYNE1)	XP_006715479.1:p.Leu8795Arg
XM_006715417.1:c.26369T>G (SYNE1)	XP_006715480.1:p.Leu8790Arg
XM_006715420.1:c.26357T>G (SYNE1)	XP_006715483.1:p.Leu8786Arg
XM_006715421.1:c.26354T>G (SYNE1)	XP_006715484.1:p.Leu8785Arg
XM_006715422.1:c.26351T>G (SYNE1)	XP_006715485.1:p.Leu8784Arg
XM_006715423.1:c.*174T>G (SYNE1)	XP_006715486.1:n.*174T>G
XM_006715424.1:c.*174T>G (SYNE1)	XP_006715487.1:n.*174T>G
XM_006715425.1:c.*174T>G (SYNE1)	XP_006715488.1:n.*174T>G
XM_011535641.1:c.26507T>G (SYNE1)	XP_011533943.1:p.Leu8836Arg
XM_011535642.1:c.26495T>G (SYNE1)	XP_011533944.1:p.Leu8832Arg
XM_011535643.1:c.26345T>G (SYNE1)	XP_011533945.1:p.Leu8782Arg
XM_011535644.1:c.24785T>G (SYNE1)	XP_011533946.1:p.Leu8262Arg
XM_011535645.1:c.24278T>G (SYNE1)	XP_011533947.1:p.Leu8093Arg
XM_011535647.1:c.19745T>G (SYNE1)	XP_011533949.1:p.Leu6582Arg
NM_001328100.1:c.851-2799A>C (ESR1)	NP_001315029.1:n.851-2799A>C
NM_001347701.1:c.*174T>G (SYNE1)	NP_001334630.1:n.*174T>G
NM_001347702.1:c.2897T>G (SYNE1)	NP_001334631.1:p.Leu966Arg
XM_006715408.2:c.26498T>G (SYNE1)	XP_006715471.1:p.Leu8833Arg
XM_006715410.2:c.26468T>G (SYNE1)	XP_006715473.1:p.Leu8823Arg
XM_006715412.2:c.26453T>G (SYNE1)	XP_006715475.1:p.Leu8818Arg
XM_006715413.2:c.26441T>G (SYNE1)	XP_006715476.1:p.Leu8814Arg
XM_006715415.2:c.26399T>G (SYNE1)	XP_006715478.1:p.Leu8800Arg
XM_006715416.2:c.26384T>G (SYNE1)	XP_006715479.1:p.Leu8795Arg
XM_006715417.2:c.26369T>G (SYNE1)	XP_006715480.1:p.Leu8790Arg
XM_006715420.2:c.26357T>G (SYNE1)	XP_006715483.1:p.Leu8786Arg
XM_006715421.2:c.26354T>G (SYNE1)	XP_006715484.1:p.Leu8785Arg
XM_006715423.2:c.*174T>G (SYNE1)	XP_006715486.1:n.*174T>G
XM_006715424.2:c.*174T>G (SYNE1)	XP_006715487.1:n.*174T>G
XM_006715425.2:c.*174T>G (SYNE1)	XP_006715488.1:n.*174T>G
XM_011535641.2:c.26507T>G (SYNE1)	XP_011533943.1:p.Leu8836Arg
XM_011535642.2:c.26495T>G (SYNE1)	XP_011533944.1:p.Leu8832Arg
XM_011535645.2:c.24278T>G (SYNE1)	XP_011533947.1:p.Leu8093Arg
XM_017010608.1:c.26510T>G (SYNE1)	XP_016866097.1:p.Leu8837Arg
XM_017010609.1:c.26510T>G (SYNE1)	XP_016866098.1:p.Leu8837Arg
XM_017010610.1:c.26489T>G (SYNE1)	XP_016866099.1:p.Leu8830Arg
XM_017010611.2:c.26483T>G (SYNE1)	XP_016866100.1:p.Leu8828Arg
XM_017010612.1:c.26432T>G (SYNE1)	XP_016866101.1:p.Leu8811Arg
XM_017010613.1:c.26396T>G (SYNE1)	XP_016866102.1:p.Leu8799Arg
XM_017010614.1:c.26354T>G (SYNE1)	XP_016866103.1:p.Leu8785Arg
XM_017010615.1:c.26243T>G (SYNE1)	XP_016866104.1:p.Leu8748Arg
XM_017010616.1:c.*174T>G (SYNE1)	XP_016866105.1:n.*174T>G
XM_017010617.1:c.*174T>G (SYNE1)	XP_016866106.1:n.*174T>G
XM_017010618.1:c.*174T>G (SYNE1)	XP_016866107.1:n.*174T>G
XM_017010619.1:c.24785T>G (SYNE1)	XP_016866108.1:p.Leu8262Arg
NM_182961.4:c.26363T>G (SYNE1) MANE Select	NP_892006.3:p.Leu8788Arg
NM_001328100.2:c.851-2799A>C (ESR1)	NP_001315029.1:n.851-2799A>C
NM_001347701.2:c.*174T>G (SYNE1)	NP_001334630.1:n.*174T>G
NM_001347702.2:c.2897T>G (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Leu966Arg
NM_033071.5:c.26219T>G (SYNE1)	NP_149062.2:p.Leu8740Arg