Canonical Allele Identifier: CA366089142

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443759A>G (hg19) ; chr6:g.152122624A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122624A>G , CM000668.2:g.152122624A>G	GRCh38
NC_000006.11:g.152443759A>G , CM000668.1:g.152443759A>G	GRCh37
NC_000006.10:g.152485452A>G	NCBI36
NG_012855.1:g.519776T>C
NG_008493.2:g.470934A>G
NG_012855.2:g.519776T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2740T>C (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Ser914Pro
ENST00000367255.10:c.26206T>C (SYNE1) MANE Select	ENSP00000356224.5:p.Ser8736Pro
ENST00000423061.6:c.26062T>C (SYNE1)	ENSP00000396024.1:p.Ser8688Pro
ENST00000672154.1:c.1549T>C (SYNE1)
ENST00000672169.1:c.1924T>C (SYNE1)
ENST00000673173.1:c.1791T>C (SYNE1)
ENST00000673451.1:c.2056T>C (SYNE1)	ENSP00000500189.1:n.2056T>C
ENST00000341594.9:c.24991T>C (SYNE1)	ENSP00000341887.6:p.Ser8331Pro
ENST00000347037.9:n.2954T>C (SYNE1)
ENST00000354674.4:c.2740T>C (SYNE1)	ENSP00000346701.4:p.Ser914Pro
ENST00000367251.7:c.4982T>C (SYNE1)	ENSP00000356220.3:n.4982T>C
ENST00000367255.9:c.26206T>C (SYNE1)	ENSP00000356224.5:p.Ser8736Pro
ENST00000367256.9:n.9898T>C (SYNE1)
ENST00000367257.8:c.4085T>C (SYNE1)	ENSP00000356226.4:n.4085T>C
ENST00000409694.6:n.9790T>C (SYNE1)
ENST00000423061.5:c.26062T>C (SYNE1)	ENSP00000396024.1:p.Ser8688Pro
ENST00000427531.6:c.851-2642A>G (ESR1)	ENSP00000394721.2:n.851-2642A>G
ENST00000460912.6:n.2820T>C (SYNE1)
ENST00000478916.5:n.6843T>C (SYNE1)
ENST00000536990.5:n.2984T>C (SYNE1)
ENST00000539504.5:c.2671T>C (SYNE1)	ENSP00000441052.1:p.Ser891Pro
NM_033071.3:c.26062T>C (SYNE1)	NP_149062.1:p.Ser8688Pro
NM_182961.3:c.26206T>C (SYNE1)	NP_892006.3:p.Ser8736Pro
XM_006715407.1:c.26353T>C (SYNE1)	XP_006715470.1:p.Ser8785Pro
XM_006715408.1:c.26341T>C (SYNE1)	XP_006715471.1:p.Ser8781Pro
XM_006715409.1:c.26332T>C (SYNE1)	XP_006715472.1:p.Ser8778Pro
XM_006715410.1:c.26311T>C (SYNE1)	XP_006715473.1:p.Ser8771Pro
XM_006715411.1:c.26302T>C (SYNE1)	XP_006715474.1:p.Ser8768Pro
XM_006715412.1:c.26296T>C (SYNE1)	XP_006715475.1:p.Ser8766Pro
XM_006715413.1:c.26284T>C (SYNE1)	XP_006715476.1:p.Ser8762Pro
XM_006715414.1:c.26281T>C (SYNE1)	XP_006715477.1:p.Ser8761Pro
XM_006715415.1:c.26242T>C (SYNE1)	XP_006715478.1:p.Ser8748Pro
XM_006715416.1:c.26227T>C (SYNE1)	XP_006715479.1:p.Ser8743Pro
XM_006715417.1:c.26212T>C (SYNE1)	XP_006715480.1:p.Ser8738Pro
XM_006715420.1:c.26200T>C (SYNE1)	XP_006715483.1:p.Ser8734Pro
XM_006715421.1:c.26197T>C (SYNE1)	XP_006715484.1:p.Ser8733Pro
XM_006715422.1:c.26194T>C (SYNE1)	XP_006715485.1:p.Ser8732Pro
XM_006715423.1:c.*17T>C (SYNE1)	XP_006715486.1:n.*17T>C
XM_006715424.1:c.*17T>C (SYNE1)	XP_006715487.1:n.*17T>C
XM_006715425.1:c.*17T>C (SYNE1)	XP_006715488.1:n.*17T>C
XM_011535641.1:c.26350T>C (SYNE1)	XP_011533943.1:p.Ser8784Pro
XM_011535642.1:c.26338T>C (SYNE1)	XP_011533944.1:p.Ser8780Pro
XM_011535643.1:c.26188T>C (SYNE1)	XP_011533945.1:p.Ser8730Pro
XM_011535644.1:c.24628T>C (SYNE1)	XP_011533946.1:p.Ser8210Pro
XM_011535645.1:c.24121T>C (SYNE1)	XP_011533947.1:p.Ser8041Pro
XM_011535647.1:c.19588T>C (SYNE1)	XP_011533949.1:p.Ser6530Pro
NM_001328100.1:c.851-2642A>G (ESR1)	NP_001315029.1:n.851-2642A>G
NM_001347701.1:c.*17T>C (SYNE1)	NP_001334630.1:n.*17T>C
NM_001347702.1:c.2740T>C (SYNE1)	NP_001334631.1:p.Ser914Pro
XM_006715408.2:c.26341T>C (SYNE1)	XP_006715471.1:p.Ser8781Pro
XM_006715410.2:c.26311T>C (SYNE1)	XP_006715473.1:p.Ser8771Pro
XM_006715412.2:c.26296T>C (SYNE1)	XP_006715475.1:p.Ser8766Pro
XM_006715413.2:c.26284T>C (SYNE1)	XP_006715476.1:p.Ser8762Pro
XM_006715415.2:c.26242T>C (SYNE1)	XP_006715478.1:p.Ser8748Pro
XM_006715416.2:c.26227T>C (SYNE1)	XP_006715479.1:p.Ser8743Pro
XM_006715417.2:c.26212T>C (SYNE1)	XP_006715480.1:p.Ser8738Pro
XM_006715420.2:c.26200T>C (SYNE1)	XP_006715483.1:p.Ser8734Pro
XM_006715421.2:c.26197T>C (SYNE1)	XP_006715484.1:p.Ser8733Pro
XM_006715423.2:c.*17T>C (SYNE1)	XP_006715486.1:n.*17T>C
XM_006715424.2:c.*17T>C (SYNE1)	XP_006715487.1:n.*17T>C
XM_006715425.2:c.*17T>C (SYNE1)	XP_006715488.1:n.*17T>C
XM_011535641.2:c.26350T>C (SYNE1)	XP_011533943.1:p.Ser8784Pro
XM_011535642.2:c.26338T>C (SYNE1)	XP_011533944.1:p.Ser8780Pro
XM_011535645.2:c.24121T>C (SYNE1)	XP_011533947.1:p.Ser8041Pro
XM_017010608.1:c.26353T>C (SYNE1)	XP_016866097.1:p.Ser8785Pro
XM_017010609.1:c.26353T>C (SYNE1)	XP_016866098.1:p.Ser8785Pro
XM_017010610.1:c.26332T>C (SYNE1)	XP_016866099.1:p.Ser8778Pro
XM_017010611.2:c.26326T>C (SYNE1)	XP_016866100.1:p.Ser8776Pro
XM_017010612.1:c.26275T>C (SYNE1)	XP_016866101.1:p.Ser8759Pro
XM_017010613.1:c.26239T>C (SYNE1)	XP_016866102.1:p.Ser8747Pro
XM_017010614.1:c.26197T>C (SYNE1)	XP_016866103.1:p.Ser8733Pro
XM_017010615.1:c.26086T>C (SYNE1)	XP_016866104.1:p.Ser8696Pro
XM_017010616.1:c.*17T>C (SYNE1)	XP_016866105.1:n.*17T>C
XM_017010617.1:c.*17T>C (SYNE1)	XP_016866106.1:n.*17T>C
XM_017010618.1:c.*17T>C (SYNE1)	XP_016866107.1:n.*17T>C
XM_017010619.1:c.24628T>C (SYNE1)	XP_016866108.1:p.Ser8210Pro
NM_182961.4:c.26206T>C (SYNE1) MANE Select	NP_892006.3:p.Ser8736Pro
NM_001328100.2:c.851-2642A>G (ESR1)	NP_001315029.1:n.851-2642A>G
NM_001347701.2:c.*17T>C (SYNE1)	NP_001334630.1:n.*17T>C
NM_001347702.2:c.2740T>C (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Ser914Pro
NM_033071.5:c.26062T>C (SYNE1)	NP_149062.2:p.Ser8688Pro