Canonical Allele Identifier: CA366088998

Gene: SYNE1 ESR1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2777C>A (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Ala926Asp
ENST00000367255.10:c.26243C>A (SYNE1) MANE Select	ENSP00000356224.5:p.Ala8748Asp
ENST00000423061.6:c.26099C>A (SYNE1)	ENSP00000396024.1:p.Ala8700Asp
ENST00000672154.1:c.1586C>A (SYNE1)
ENST00000672169.1:c.1961C>A (SYNE1)
ENST00000673173.1:c.1828C>A (SYNE1)
ENST00000673451.1:c.2093C>A (SYNE1)	ENSP00000500189.1:n.2093C>A
ENST00000341594.9:c.25028C>A (SYNE1)	ENSP00000341887.6:p.Ala8343Asp
ENST00000347037.9:n.2991C>A (SYNE1)
ENST00000354674.4:c.2777C>A (SYNE1)	ENSP00000346701.4:p.Ala926Asp
ENST00000367251.7:c.5019C>A (SYNE1)	ENSP00000356220.3:n.5019C>A
ENST00000367255.9:c.26243C>A (SYNE1)	ENSP00000356224.5:p.Ala8748Asp
ENST00000367256.9:n.9935C>A (SYNE1)
ENST00000367257.8:c.4122C>A (SYNE1)	ENSP00000356226.4:n.4122C>A
ENST00000409694.6:n.9827C>A (SYNE1)
ENST00000423061.5:c.26099C>A (SYNE1)	ENSP00000396024.1:p.Ala8700Asp
ENST00000427531.6:c.851-2679G>T (ESR1)	ENSP00000394721.2:n.851-2679G>T
ENST00000460912.6:n.2857C>A (SYNE1)
ENST00000478916.5:n.6880C>A (SYNE1)
ENST00000539504.5:c.2708C>A (SYNE1)	ENSP00000441052.1:p.Ala903Asp
NM_033071.3:c.26099C>A (SYNE1)	NP_149062.1:p.Ala8700Asp
NM_182961.3:c.26243C>A (SYNE1)	NP_892006.3:p.Ala8748Asp
XM_006715407.1:c.26390C>A (SYNE1)	XP_006715470.1:p.Ala8797Asp
XM_006715408.1:c.26378C>A (SYNE1)	XP_006715471.1:p.Ala8793Asp
XM_006715409.1:c.26369C>A (SYNE1)	XP_006715472.1:p.Ala8790Asp
XM_006715410.1:c.26348C>A (SYNE1)	XP_006715473.1:p.Ala8783Asp
XM_006715411.1:c.26339C>A (SYNE1)	XP_006715474.1:p.Ala8780Asp
XM_006715412.1:c.26333C>A (SYNE1)	XP_006715475.1:p.Ala8778Asp
XM_006715413.1:c.26321C>A (SYNE1)	XP_006715476.1:p.Ala8774Asp
XM_006715414.1:c.26318C>A (SYNE1)	XP_006715477.1:p.Ala8773Asp
XM_006715415.1:c.26279C>A (SYNE1)	XP_006715478.1:p.Ala8760Asp
XM_006715416.1:c.26264C>A (SYNE1)	XP_006715479.1:p.Ala8755Asp
XM_006715417.1:c.26249C>A (SYNE1)	XP_006715480.1:p.Ala8750Asp
XM_006715420.1:c.26237C>A (SYNE1)	XP_006715483.1:p.Ala8746Asp
XM_006715421.1:c.26234C>A (SYNE1)	XP_006715484.1:p.Ala8745Asp
XM_006715422.1:c.26231C>A (SYNE1)	XP_006715485.1:p.Ala8744Asp
XM_006715423.1:c.*54C>A (SYNE1)	XP_006715486.1:n.*54C>A
XM_006715424.1:c.*54C>A (SYNE1)	XP_006715487.1:n.*54C>A
XM_006715425.1:c.*54C>A (SYNE1)	XP_006715488.1:n.*54C>A
XM_011535641.1:c.26387C>A (SYNE1)	XP_011533943.1:p.Ala8796Asp
XM_011535642.1:c.26375C>A (SYNE1)	XP_011533944.1:p.Ala8792Asp
XM_011535643.1:c.26225C>A (SYNE1)	XP_011533945.1:p.Ala8742Asp
XM_011535644.1:c.24665C>A (SYNE1)	XP_011533946.1:p.Ala8222Asp
XM_011535645.1:c.24158C>A (SYNE1)	XP_011533947.1:p.Ala8053Asp
XM_011535647.1:c.19625C>A (SYNE1)	XP_011533949.1:p.Ala6542Asp
NM_001328100.1:c.851-2679G>T (ESR1)	NP_001315029.1:n.851-2679G>T
NM_001347701.1:c.*54C>A (SYNE1)	NP_001334630.1:n.*54C>A
NM_001347702.1:c.2777C>A (SYNE1)	NP_001334631.1:p.Ala926Asp
XM_006715408.2:c.26378C>A (SYNE1)	XP_006715471.1:p.Ala8793Asp
XM_006715410.2:c.26348C>A (SYNE1)	XP_006715473.1:p.Ala8783Asp
XM_006715412.2:c.26333C>A (SYNE1)	XP_006715475.1:p.Ala8778Asp
XM_006715413.2:c.26321C>A (SYNE1)	XP_006715476.1:p.Ala8774Asp
XM_006715415.2:c.26279C>A (SYNE1)	XP_006715478.1:p.Ala8760Asp
XM_006715416.2:c.26264C>A (SYNE1)	XP_006715479.1:p.Ala8755Asp
XM_006715417.2:c.26249C>A (SYNE1)	XP_006715480.1:p.Ala8750Asp
XM_006715420.2:c.26237C>A (SYNE1)	XP_006715483.1:p.Ala8746Asp
XM_006715421.2:c.26234C>A (SYNE1)	XP_006715484.1:p.Ala8745Asp
XM_006715423.2:c.*54C>A (SYNE1)	XP_006715486.1:n.*54C>A
XM_006715424.2:c.*54C>A (SYNE1)	XP_006715487.1:n.*54C>A
XM_006715425.2:c.*54C>A (SYNE1)	XP_006715488.1:n.*54C>A
XM_011535641.2:c.26387C>A (SYNE1)	XP_011533943.1:p.Ala8796Asp
XM_011535642.2:c.26375C>A (SYNE1)	XP_011533944.1:p.Ala8792Asp
XM_011535645.2:c.24158C>A (SYNE1)	XP_011533947.1:p.Ala8053Asp
XM_017010608.1:c.26390C>A (SYNE1)	XP_016866097.1:p.Ala8797Asp
XM_017010609.1:c.26390C>A (SYNE1)	XP_016866098.1:p.Ala8797Asp
XM_017010610.1:c.26369C>A (SYNE1)	XP_016866099.1:p.Ala8790Asp
XM_017010611.2:c.26363C>A (SYNE1)	XP_016866100.1:p.Ala8788Asp
XM_017010612.1:c.26312C>A (SYNE1)	XP_016866101.1:p.Ala8771Asp
XM_017010613.1:c.26276C>A (SYNE1)	XP_016866102.1:p.Ala8759Asp
XM_017010614.1:c.26234C>A (SYNE1)	XP_016866103.1:p.Ala8745Asp
XM_017010615.1:c.26123C>A (SYNE1)	XP_016866104.1:p.Ala8708Asp
XM_017010616.1:c.*54C>A (SYNE1)	XP_016866105.1:n.*54C>A
XM_017010617.1:c.*54C>A (SYNE1)	XP_016866106.1:n.*54C>A
XM_017010618.1:c.*54C>A (SYNE1)	XP_016866107.1:n.*54C>A
XM_017010619.1:c.24665C>A (SYNE1)	XP_016866108.1:p.Ala8222Asp
NM_182961.4:c.26243C>A (SYNE1) MANE Select	NP_892006.3:p.Ala8748Asp
NM_001328100.2:c.851-2679G>T (ESR1)	NP_001315029.1:n.851-2679G>T
NM_001347701.2:c.*54C>A (SYNE1)	NP_001334630.1:n.*54C>A
NM_001347702.2:c.2777C>A (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Ala926Asp
NM_033071.5:c.26099C>A (SYNE1)	NP_149062.2:p.Ala8700Asp