Canonical Allele Identifier: CA366088996

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443722G>C (hg19) ; chr6:g.152122587G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122587G>C , CM000668.2:g.152122587G>C	GRCh38
NC_000006.11:g.152443722G>C , CM000668.1:g.152443722G>C	GRCh37
NC_000006.10:g.152485415G>C	NCBI36
NG_012855.1:g.519813C>G
NG_008493.2:g.470897G>C
NG_012855.2:g.519813C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2777C>G (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Ala926Gly
ENST00000367255.10:c.26243C>G (SYNE1) MANE Select	ENSP00000356224.5:p.Ala8748Gly
ENST00000423061.6:c.26099C>G (SYNE1)	ENSP00000396024.1:p.Ala8700Gly
ENST00000672154.1:c.1586C>G (SYNE1)
ENST00000672169.1:c.1961C>G (SYNE1)
ENST00000673173.1:c.1828C>G (SYNE1)
ENST00000673451.1:c.2093C>G (SYNE1)	ENSP00000500189.1:n.2093C>G
ENST00000341594.9:c.25028C>G (SYNE1)	ENSP00000341887.6:p.Ala8343Gly
ENST00000347037.9:n.2991C>G (SYNE1)
ENST00000354674.4:c.2777C>G (SYNE1)	ENSP00000346701.4:p.Ala926Gly
ENST00000367251.7:c.5019C>G (SYNE1)	ENSP00000356220.3:n.5019C>G
ENST00000367255.9:c.26243C>G (SYNE1)	ENSP00000356224.5:p.Ala8748Gly
ENST00000367256.9:n.9935C>G (SYNE1)
ENST00000367257.8:c.4122C>G (SYNE1)	ENSP00000356226.4:n.4122C>G
ENST00000409694.6:n.9827C>G (SYNE1)
ENST00000423061.5:c.26099C>G (SYNE1)	ENSP00000396024.1:p.Ala8700Gly
ENST00000427531.6:c.851-2679G>C (ESR1)	ENSP00000394721.2:n.851-2679G>C
ENST00000460912.6:n.2857C>G (SYNE1)
ENST00000478916.5:n.6880C>G (SYNE1)
ENST00000539504.5:c.2708C>G (SYNE1)	ENSP00000441052.1:p.Ala903Gly
NM_033071.3:c.26099C>G (SYNE1)	NP_149062.1:p.Ala8700Gly
NM_182961.3:c.26243C>G (SYNE1)	NP_892006.3:p.Ala8748Gly
XM_006715407.1:c.26390C>G (SYNE1)	XP_006715470.1:p.Ala8797Gly
XM_006715408.1:c.26378C>G (SYNE1)	XP_006715471.1:p.Ala8793Gly
XM_006715409.1:c.26369C>G (SYNE1)	XP_006715472.1:p.Ala8790Gly
XM_006715410.1:c.26348C>G (SYNE1)	XP_006715473.1:p.Ala8783Gly
XM_006715411.1:c.26339C>G (SYNE1)	XP_006715474.1:p.Ala8780Gly
XM_006715412.1:c.26333C>G (SYNE1)	XP_006715475.1:p.Ala8778Gly
XM_006715413.1:c.26321C>G (SYNE1)	XP_006715476.1:p.Ala8774Gly
XM_006715414.1:c.26318C>G (SYNE1)	XP_006715477.1:p.Ala8773Gly
XM_006715415.1:c.26279C>G (SYNE1)	XP_006715478.1:p.Ala8760Gly
XM_006715416.1:c.26264C>G (SYNE1)	XP_006715479.1:p.Ala8755Gly
XM_006715417.1:c.26249C>G (SYNE1)	XP_006715480.1:p.Ala8750Gly
XM_006715420.1:c.26237C>G (SYNE1)	XP_006715483.1:p.Ala8746Gly
XM_006715421.1:c.26234C>G (SYNE1)	XP_006715484.1:p.Ala8745Gly
XM_006715422.1:c.26231C>G (SYNE1)	XP_006715485.1:p.Ala8744Gly
XM_006715423.1:c.*54C>G (SYNE1)	XP_006715486.1:n.*54C>G
XM_006715424.1:c.*54C>G (SYNE1)	XP_006715487.1:n.*54C>G
XM_006715425.1:c.*54C>G (SYNE1)	XP_006715488.1:n.*54C>G
XM_011535641.1:c.26387C>G (SYNE1)	XP_011533943.1:p.Ala8796Gly
XM_011535642.1:c.26375C>G (SYNE1)	XP_011533944.1:p.Ala8792Gly
XM_011535643.1:c.26225C>G (SYNE1)	XP_011533945.1:p.Ala8742Gly
XM_011535644.1:c.24665C>G (SYNE1)	XP_011533946.1:p.Ala8222Gly
XM_011535645.1:c.24158C>G (SYNE1)	XP_011533947.1:p.Ala8053Gly
XM_011535647.1:c.19625C>G (SYNE1)	XP_011533949.1:p.Ala6542Gly
NM_001328100.1:c.851-2679G>C (ESR1)	NP_001315029.1:n.851-2679G>C
NM_001347701.1:c.*54C>G (SYNE1)	NP_001334630.1:n.*54C>G
NM_001347702.1:c.2777C>G (SYNE1)	NP_001334631.1:p.Ala926Gly
XM_006715408.2:c.26378C>G (SYNE1)	XP_006715471.1:p.Ala8793Gly
XM_006715410.2:c.26348C>G (SYNE1)	XP_006715473.1:p.Ala8783Gly
XM_006715412.2:c.26333C>G (SYNE1)	XP_006715475.1:p.Ala8778Gly
XM_006715413.2:c.26321C>G (SYNE1)	XP_006715476.1:p.Ala8774Gly
XM_006715415.2:c.26279C>G (SYNE1)	XP_006715478.1:p.Ala8760Gly
XM_006715416.2:c.26264C>G (SYNE1)	XP_006715479.1:p.Ala8755Gly
XM_006715417.2:c.26249C>G (SYNE1)	XP_006715480.1:p.Ala8750Gly
XM_006715420.2:c.26237C>G (SYNE1)	XP_006715483.1:p.Ala8746Gly
XM_006715421.2:c.26234C>G (SYNE1)	XP_006715484.1:p.Ala8745Gly
XM_006715423.2:c.*54C>G (SYNE1)	XP_006715486.1:n.*54C>G
XM_006715424.2:c.*54C>G (SYNE1)	XP_006715487.1:n.*54C>G
XM_006715425.2:c.*54C>G (SYNE1)	XP_006715488.1:n.*54C>G
XM_011535641.2:c.26387C>G (SYNE1)	XP_011533943.1:p.Ala8796Gly
XM_011535642.2:c.26375C>G (SYNE1)	XP_011533944.1:p.Ala8792Gly
XM_011535645.2:c.24158C>G (SYNE1)	XP_011533947.1:p.Ala8053Gly
XM_017010608.1:c.26390C>G (SYNE1)	XP_016866097.1:p.Ala8797Gly
XM_017010609.1:c.26390C>G (SYNE1)	XP_016866098.1:p.Ala8797Gly
XM_017010610.1:c.26369C>G (SYNE1)	XP_016866099.1:p.Ala8790Gly
XM_017010611.2:c.26363C>G (SYNE1)	XP_016866100.1:p.Ala8788Gly
XM_017010612.1:c.26312C>G (SYNE1)	XP_016866101.1:p.Ala8771Gly
XM_017010613.1:c.26276C>G (SYNE1)	XP_016866102.1:p.Ala8759Gly
XM_017010614.1:c.26234C>G (SYNE1)	XP_016866103.1:p.Ala8745Gly
XM_017010615.1:c.26123C>G (SYNE1)	XP_016866104.1:p.Ala8708Gly
XM_017010616.1:c.*54C>G (SYNE1)	XP_016866105.1:n.*54C>G
XM_017010617.1:c.*54C>G (SYNE1)	XP_016866106.1:n.*54C>G
XM_017010618.1:c.*54C>G (SYNE1)	XP_016866107.1:n.*54C>G
XM_017010619.1:c.24665C>G (SYNE1)	XP_016866108.1:p.Ala8222Gly
NM_182961.4:c.26243C>G (SYNE1) MANE Select	NP_892006.3:p.Ala8748Gly
NM_001328100.2:c.851-2679G>C (ESR1)	NP_001315029.1:n.851-2679G>C
NM_001347701.2:c.*54C>G (SYNE1)	NP_001334630.1:n.*54C>G
NM_001347702.2:c.2777C>G (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Ala926Gly
NM_033071.5:c.26099C>G (SYNE1)	NP_149062.2:p.Ala8700Gly