Canonical Allele Identifier: CA366089052

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443737C>G (hg19) ; chr6:g.152122602C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122602C>G , CM000668.2:g.152122602C>G	GRCh38
NC_000006.11:g.152443737C>G , CM000668.1:g.152443737C>G	GRCh37
NC_000006.10:g.152485430C>G	NCBI36
NG_012855.1:g.519798G>C
NG_008493.2:g.470912C>G
NG_012855.2:g.519798G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2762G>C (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Arg921Thr
ENST00000367255.10:c.26228G>C (SYNE1) MANE Select	ENSP00000356224.5:p.Arg8743Thr
ENST00000423061.6:c.26084G>C (SYNE1)	ENSP00000396024.1:p.Arg8695Thr
ENST00000672154.1:c.1571G>C (SYNE1)
ENST00000672169.1:c.1946G>C (SYNE1)
ENST00000673173.1:c.1813G>C (SYNE1)
ENST00000673451.1:c.2078G>C (SYNE1)	ENSP00000500189.1:n.2078G>C
ENST00000341594.9:c.25013G>C (SYNE1)	ENSP00000341887.6:p.Arg8338Thr
ENST00000347037.9:n.2976G>C (SYNE1)
ENST00000354674.4:c.2762G>C (SYNE1)	ENSP00000346701.4:p.Arg921Thr
ENST00000367251.7:c.5004G>C (SYNE1)	ENSP00000356220.3:n.5004G>C
ENST00000367255.9:c.26228G>C (SYNE1)	ENSP00000356224.5:p.Arg8743Thr
ENST00000367256.9:n.9920G>C (SYNE1)
ENST00000367257.8:c.4107G>C (SYNE1)	ENSP00000356226.4:n.4107G>C
ENST00000409694.6:n.9812G>C (SYNE1)
ENST00000423061.5:c.26084G>C (SYNE1)	ENSP00000396024.1:p.Arg8695Thr
ENST00000427531.6:c.851-2664C>G (ESR1)	ENSP00000394721.2:n.851-2664C>G
ENST00000460912.6:n.2842G>C (SYNE1)
ENST00000478916.5:n.6865G>C (SYNE1)
ENST00000539504.5:c.2693G>C (SYNE1)	ENSP00000441052.1:p.Arg898Thr
NM_033071.3:c.26084G>C (SYNE1)	NP_149062.1:p.Arg8695Thr
NM_182961.3:c.26228G>C (SYNE1)	NP_892006.3:p.Arg8743Thr
XM_006715407.1:c.26375G>C (SYNE1)	XP_006715470.1:p.Arg8792Thr
XM_006715408.1:c.26363G>C (SYNE1)	XP_006715471.1:p.Arg8788Thr
XM_006715409.1:c.26354G>C (SYNE1)	XP_006715472.1:p.Arg8785Thr
XM_006715410.1:c.26333G>C (SYNE1)	XP_006715473.1:p.Arg8778Thr
XM_006715411.1:c.26324G>C (SYNE1)	XP_006715474.1:p.Arg8775Thr
XM_006715412.1:c.26318G>C (SYNE1)	XP_006715475.1:p.Arg8773Thr
XM_006715413.1:c.26306G>C (SYNE1)	XP_006715476.1:p.Arg8769Thr
XM_006715414.1:c.26303G>C (SYNE1)	XP_006715477.1:p.Arg8768Thr
XM_006715415.1:c.26264G>C (SYNE1)	XP_006715478.1:p.Arg8755Thr
XM_006715416.1:c.26249G>C (SYNE1)	XP_006715479.1:p.Arg8750Thr
XM_006715417.1:c.26234G>C (SYNE1)	XP_006715480.1:p.Arg8745Thr
XM_006715420.1:c.26222G>C (SYNE1)	XP_006715483.1:p.Arg8741Thr
XM_006715421.1:c.26219G>C (SYNE1)	XP_006715484.1:p.Arg8740Thr
XM_006715422.1:c.26216G>C (SYNE1)	XP_006715485.1:p.Arg8739Thr
XM_006715423.1:c.*39G>C (SYNE1)	XP_006715486.1:n.*39G>C
XM_006715424.1:c.*39G>C (SYNE1)	XP_006715487.1:n.*39G>C
XM_006715425.1:c.*39G>C (SYNE1)	XP_006715488.1:n.*39G>C
XM_011535641.1:c.26372G>C (SYNE1)	XP_011533943.1:p.Arg8791Thr
XM_011535642.1:c.26360G>C (SYNE1)	XP_011533944.1:p.Arg8787Thr
XM_011535643.1:c.26210G>C (SYNE1)	XP_011533945.1:p.Arg8737Thr
XM_011535644.1:c.24650G>C (SYNE1)	XP_011533946.1:p.Arg8217Thr
XM_011535645.1:c.24143G>C (SYNE1)	XP_011533947.1:p.Arg8048Thr
XM_011535647.1:c.19610G>C (SYNE1)	XP_011533949.1:p.Arg6537Thr
NM_001328100.1:c.851-2664C>G (ESR1)	NP_001315029.1:n.851-2664C>G
NM_001347701.1:c.*39G>C (SYNE1)	NP_001334630.1:n.*39G>C
NM_001347702.1:c.2762G>C (SYNE1)	NP_001334631.1:p.Arg921Thr
XM_006715408.2:c.26363G>C (SYNE1)	XP_006715471.1:p.Arg8788Thr
XM_006715410.2:c.26333G>C (SYNE1)	XP_006715473.1:p.Arg8778Thr
XM_006715412.2:c.26318G>C (SYNE1)	XP_006715475.1:p.Arg8773Thr
XM_006715413.2:c.26306G>C (SYNE1)	XP_006715476.1:p.Arg8769Thr
XM_006715415.2:c.26264G>C (SYNE1)	XP_006715478.1:p.Arg8755Thr
XM_006715416.2:c.26249G>C (SYNE1)	XP_006715479.1:p.Arg8750Thr
XM_006715417.2:c.26234G>C (SYNE1)	XP_006715480.1:p.Arg8745Thr
XM_006715420.2:c.26222G>C (SYNE1)	XP_006715483.1:p.Arg8741Thr
XM_006715421.2:c.26219G>C (SYNE1)	XP_006715484.1:p.Arg8740Thr
XM_006715423.2:c.*39G>C (SYNE1)	XP_006715486.1:n.*39G>C
XM_006715424.2:c.*39G>C (SYNE1)	XP_006715487.1:n.*39G>C
XM_006715425.2:c.*39G>C (SYNE1)	XP_006715488.1:n.*39G>C
XM_011535641.2:c.26372G>C (SYNE1)	XP_011533943.1:p.Arg8791Thr
XM_011535642.2:c.26360G>C (SYNE1)	XP_011533944.1:p.Arg8787Thr
XM_011535645.2:c.24143G>C (SYNE1)	XP_011533947.1:p.Arg8048Thr
XM_017010608.1:c.26375G>C (SYNE1)	XP_016866097.1:p.Arg8792Thr
XM_017010609.1:c.26375G>C (SYNE1)	XP_016866098.1:p.Arg8792Thr
XM_017010610.1:c.26354G>C (SYNE1)	XP_016866099.1:p.Arg8785Thr
XM_017010611.2:c.26348G>C (SYNE1)	XP_016866100.1:p.Arg8783Thr
XM_017010612.1:c.26297G>C (SYNE1)	XP_016866101.1:p.Arg8766Thr
XM_017010613.1:c.26261G>C (SYNE1)	XP_016866102.1:p.Arg8754Thr
XM_017010614.1:c.26219G>C (SYNE1)	XP_016866103.1:p.Arg8740Thr
XM_017010615.1:c.26108G>C (SYNE1)	XP_016866104.1:p.Arg8703Thr
XM_017010616.1:c.*39G>C (SYNE1)	XP_016866105.1:n.*39G>C
XM_017010617.1:c.*39G>C (SYNE1)	XP_016866106.1:n.*39G>C
XM_017010618.1:c.*39G>C (SYNE1)	XP_016866107.1:n.*39G>C
XM_017010619.1:c.24650G>C (SYNE1)	XP_016866108.1:p.Arg8217Thr
NM_182961.4:c.26228G>C (SYNE1) MANE Select	NP_892006.3:p.Arg8743Thr
NM_001328100.2:c.851-2664C>G (ESR1)	NP_001315029.1:n.851-2664C>G
NM_001347701.2:c.*39G>C (SYNE1)	NP_001334630.1:n.*39G>C
NM_001347702.2:c.2762G>C (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Arg921Thr
NM_033071.5:c.26084G>C (SYNE1)	NP_149062.2:p.Arg8695Thr