Canonical Allele Identifier: CA366089086

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443745G>C (hg19) ; chr6:g.152122610G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122610G>C , CM000668.2:g.152122610G>C	GRCh38
NC_000006.11:g.152443745G>C , CM000668.1:g.152443745G>C	GRCh37
NC_000006.10:g.152485438G>C	NCBI36
NG_012855.1:g.519790C>G
NG_008493.2:g.470920G>C
NG_012855.2:g.519790C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000354674.5:c.2754C>G (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Phe918Leu
ENST00000367255.10:c.26220C>G (SYNE1) MANE Select	ENSP00000356224.5:p.Phe8740Leu
ENST00000423061.6:c.26076C>G (SYNE1)	ENSP00000396024.1:p.Phe8692Leu
ENST00000672154.1:c.1563C>G (SYNE1)
ENST00000672169.1:c.1938C>G (SYNE1)
ENST00000673173.1:c.1805C>G (SYNE1)
ENST00000673451.1:c.2070C>G (SYNE1)	ENSP00000500189.1:n.2070C>G
ENST00000341594.9:c.25005C>G (SYNE1)	ENSP00000341887.6:p.Phe8335Leu
ENST00000347037.9:n.2968C>G (SYNE1)
ENST00000354674.4:c.2754C>G (SYNE1)	ENSP00000346701.4:p.Phe918Leu
ENST00000367251.7:c.4996C>G (SYNE1)	ENSP00000356220.3:n.4996C>G
ENST00000367255.9:c.26220C>G (SYNE1)	ENSP00000356224.5:p.Phe8740Leu
ENST00000367256.9:n.9912C>G (SYNE1)
ENST00000367257.8:c.4099C>G (SYNE1)	ENSP00000356226.4:n.4099C>G
ENST00000409694.6:n.9804C>G (SYNE1)
ENST00000423061.5:c.26076C>G (SYNE1)	ENSP00000396024.1:p.Phe8692Leu
ENST00000427531.6:c.851-2656G>C (ESR1)	ENSP00000394721.2:n.851-2656G>C
ENST00000460912.6:n.2834C>G (SYNE1)
ENST00000478916.5:n.6857C>G (SYNE1)
ENST00000536990.5:n.2998C>G (SYNE1)
ENST00000539504.5:c.2685C>G (SYNE1)	ENSP00000441052.1:p.Phe895Leu
NM_033071.3:c.26076C>G (SYNE1)	NP_149062.1:p.Phe8692Leu
NM_182961.3:c.26220C>G (SYNE1)	NP_892006.3:p.Phe8740Leu
XM_006715407.1:c.26367C>G (SYNE1)	XP_006715470.1:p.Phe8789Leu
XM_006715408.1:c.26355C>G (SYNE1)	XP_006715471.1:p.Phe8785Leu
XM_006715409.1:c.26346C>G (SYNE1)	XP_006715472.1:p.Phe8782Leu
XM_006715410.1:c.26325C>G (SYNE1)	XP_006715473.1:p.Phe8775Leu
XM_006715411.1:c.26316C>G (SYNE1)	XP_006715474.1:p.Phe8772Leu
XM_006715412.1:c.26310C>G (SYNE1)	XP_006715475.1:p.Phe8770Leu
XM_006715413.1:c.26298C>G (SYNE1)	XP_006715476.1:p.Phe8766Leu
XM_006715414.1:c.26295C>G (SYNE1)	XP_006715477.1:p.Phe8765Leu
XM_006715415.1:c.26256C>G (SYNE1)	XP_006715478.1:p.Phe8752Leu
XM_006715416.1:c.26241C>G (SYNE1)	XP_006715479.1:p.Phe8747Leu
XM_006715417.1:c.26226C>G (SYNE1)	XP_006715480.1:p.Phe8742Leu
XM_006715420.1:c.26214C>G (SYNE1)	XP_006715483.1:p.Phe8738Leu
XM_006715421.1:c.26211C>G (SYNE1)	XP_006715484.1:p.Phe8737Leu
XM_006715422.1:c.26208C>G (SYNE1)	XP_006715485.1:p.Phe8736Leu
XM_006715423.1:c.*31C>G (SYNE1)	XP_006715486.1:n.*31C>G
XM_006715424.1:c.*31C>G (SYNE1)	XP_006715487.1:n.*31C>G
XM_006715425.1:c.*31C>G (SYNE1)	XP_006715488.1:n.*31C>G
XM_011535641.1:c.26364C>G (SYNE1)	XP_011533943.1:p.Phe8788Leu
XM_011535642.1:c.26352C>G (SYNE1)	XP_011533944.1:p.Phe8784Leu
XM_011535643.1:c.26202C>G (SYNE1)	XP_011533945.1:p.Phe8734Leu
XM_011535644.1:c.24642C>G (SYNE1)	XP_011533946.1:p.Phe8214Leu
XM_011535645.1:c.24135C>G (SYNE1)	XP_011533947.1:p.Phe8045Leu
XM_011535647.1:c.19602C>G (SYNE1)	XP_011533949.1:p.Phe6534Leu
NM_001328100.1:c.851-2656G>C (ESR1)	NP_001315029.1:n.851-2656G>C
NM_001347701.1:c.*31C>G (SYNE1)	NP_001334630.1:n.*31C>G
NM_001347702.1:c.2754C>G (SYNE1)	NP_001334631.1:p.Phe918Leu
XM_006715408.2:c.26355C>G (SYNE1)	XP_006715471.1:p.Phe8785Leu
XM_006715410.2:c.26325C>G (SYNE1)	XP_006715473.1:p.Phe8775Leu
XM_006715412.2:c.26310C>G (SYNE1)	XP_006715475.1:p.Phe8770Leu
XM_006715413.2:c.26298C>G (SYNE1)	XP_006715476.1:p.Phe8766Leu
XM_006715415.2:c.26256C>G (SYNE1)	XP_006715478.1:p.Phe8752Leu
XM_006715416.2:c.26241C>G (SYNE1)	XP_006715479.1:p.Phe8747Leu
XM_006715417.2:c.26226C>G (SYNE1)	XP_006715480.1:p.Phe8742Leu
XM_006715420.2:c.26214C>G (SYNE1)	XP_006715483.1:p.Phe8738Leu
XM_006715421.2:c.26211C>G (SYNE1)	XP_006715484.1:p.Phe8737Leu
XM_006715423.2:c.*31C>G (SYNE1)	XP_006715486.1:n.*31C>G
XM_006715424.2:c.*31C>G (SYNE1)	XP_006715487.1:n.*31C>G
XM_006715425.2:c.*31C>G (SYNE1)	XP_006715488.1:n.*31C>G
XM_011535641.2:c.26364C>G (SYNE1)	XP_011533943.1:p.Phe8788Leu
XM_011535642.2:c.26352C>G (SYNE1)	XP_011533944.1:p.Phe8784Leu
XM_011535645.2:c.24135C>G (SYNE1)	XP_011533947.1:p.Phe8045Leu
XM_017010608.1:c.26367C>G (SYNE1)	XP_016866097.1:p.Phe8789Leu
XM_017010609.1:c.26367C>G (SYNE1)	XP_016866098.1:p.Phe8789Leu
XM_017010610.1:c.26346C>G (SYNE1)	XP_016866099.1:p.Phe8782Leu
XM_017010611.2:c.26340C>G (SYNE1)	XP_016866100.1:p.Phe8780Leu
XM_017010612.1:c.26289C>G (SYNE1)	XP_016866101.1:p.Phe8763Leu
XM_017010613.1:c.26253C>G (SYNE1)	XP_016866102.1:p.Phe8751Leu
XM_017010614.1:c.26211C>G (SYNE1)	XP_016866103.1:p.Phe8737Leu
XM_017010615.1:c.26100C>G (SYNE1)	XP_016866104.1:p.Phe8700Leu
XM_017010616.1:c.*31C>G (SYNE1)	XP_016866105.1:n.*31C>G
XM_017010617.1:c.*31C>G (SYNE1)	XP_016866106.1:n.*31C>G
XM_017010618.1:c.*31C>G (SYNE1)	XP_016866107.1:n.*31C>G
XM_017010619.1:c.24642C>G (SYNE1)	XP_016866108.1:p.Phe8214Leu
NM_182961.4:c.26220C>G (SYNE1) MANE Select	NP_892006.3:p.Phe8740Leu
NM_001328100.2:c.851-2656G>C (ESR1)	NP_001315029.1:n.851-2656G>C
NM_001347701.2:c.*31C>G (SYNE1)	NP_001334630.1:n.*31C>G
NM_001347702.2:c.2754C>G (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Phe918Leu
NM_033071.5:c.26076C>G (SYNE1)	NP_149062.2:p.Phe8692Leu