Canonical Allele Identifier: CA366089014

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443726C>G (hg19) ; chr6:g.152122591C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122591C>G , CM000668.2:g.152122591C>G	GRCh38
NC_000006.11:g.152443726C>G , CM000668.1:g.152443726C>G	GRCh37
NC_000006.10:g.152485419C>G	NCBI36
NG_012855.1:g.519809G>C
NG_008493.2:g.470901C>G
NG_012855.2:g.519809G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2773G>C (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Ala925Pro
ENST00000367255.10:c.26239G>C (SYNE1) MANE Select	ENSP00000356224.5:p.Ala8747Pro
ENST00000423061.6:c.26095G>C (SYNE1)	ENSP00000396024.1:p.Ala8699Pro
ENST00000672154.1:c.1582G>C (SYNE1)
ENST00000672169.1:c.1957G>C (SYNE1)
ENST00000673173.1:c.1824G>C (SYNE1)
ENST00000673451.1:c.2089G>C (SYNE1)	ENSP00000500189.1:n.2089G>C
ENST00000341594.9:c.25024G>C (SYNE1)	ENSP00000341887.6:p.Ala8342Pro
ENST00000347037.9:n.2987G>C (SYNE1)
ENST00000354674.4:c.2773G>C (SYNE1)	ENSP00000346701.4:p.Ala925Pro
ENST00000367251.7:c.5015G>C (SYNE1)	ENSP00000356220.3:n.5015G>C
ENST00000367255.9:c.26239G>C (SYNE1)	ENSP00000356224.5:p.Ala8747Pro
ENST00000367256.9:n.9931G>C (SYNE1)
ENST00000367257.8:c.4118G>C (SYNE1)	ENSP00000356226.4:n.4118G>C
ENST00000409694.6:n.9823G>C (SYNE1)
ENST00000423061.5:c.26095G>C (SYNE1)	ENSP00000396024.1:p.Ala8699Pro
ENST00000427531.6:c.851-2675C>G (ESR1)	ENSP00000394721.2:n.851-2675C>G
ENST00000460912.6:n.2853G>C (SYNE1)
ENST00000478916.5:n.6876G>C (SYNE1)
ENST00000539504.5:c.2704G>C (SYNE1)	ENSP00000441052.1:p.Ala902Pro
NM_033071.3:c.26095G>C (SYNE1)	NP_149062.1:p.Ala8699Pro
NM_182961.3:c.26239G>C (SYNE1)	NP_892006.3:p.Ala8747Pro
XM_006715407.1:c.26386G>C (SYNE1)	XP_006715470.1:p.Ala8796Pro
XM_006715408.1:c.26374G>C (SYNE1)	XP_006715471.1:p.Ala8792Pro
XM_006715409.1:c.26365G>C (SYNE1)	XP_006715472.1:p.Ala8789Pro
XM_006715410.1:c.26344G>C (SYNE1)	XP_006715473.1:p.Ala8782Pro
XM_006715411.1:c.26335G>C (SYNE1)	XP_006715474.1:p.Ala8779Pro
XM_006715412.1:c.26329G>C (SYNE1)	XP_006715475.1:p.Ala8777Pro
XM_006715413.1:c.26317G>C (SYNE1)	XP_006715476.1:p.Ala8773Pro
XM_006715414.1:c.26314G>C (SYNE1)	XP_006715477.1:p.Ala8772Pro
XM_006715415.1:c.26275G>C (SYNE1)	XP_006715478.1:p.Ala8759Pro
XM_006715416.1:c.26260G>C (SYNE1)	XP_006715479.1:p.Ala8754Pro
XM_006715417.1:c.26245G>C (SYNE1)	XP_006715480.1:p.Ala8749Pro
XM_006715420.1:c.26233G>C (SYNE1)	XP_006715483.1:p.Ala8745Pro
XM_006715421.1:c.26230G>C (SYNE1)	XP_006715484.1:p.Ala8744Pro
XM_006715422.1:c.26227G>C (SYNE1)	XP_006715485.1:p.Ala8743Pro
XM_006715423.1:c.*50G>C (SYNE1)	XP_006715486.1:n.*50G>C
XM_006715424.1:c.*50G>C (SYNE1)	XP_006715487.1:n.*50G>C
XM_006715425.1:c.*50G>C (SYNE1)	XP_006715488.1:n.*50G>C
XM_011535641.1:c.26383G>C (SYNE1)	XP_011533943.1:p.Ala8795Pro
XM_011535642.1:c.26371G>C (SYNE1)	XP_011533944.1:p.Ala8791Pro
XM_011535643.1:c.26221G>C (SYNE1)	XP_011533945.1:p.Ala8741Pro
XM_011535644.1:c.24661G>C (SYNE1)	XP_011533946.1:p.Ala8221Pro
XM_011535645.1:c.24154G>C (SYNE1)	XP_011533947.1:p.Ala8052Pro
XM_011535647.1:c.19621G>C (SYNE1)	XP_011533949.1:p.Ala6541Pro
NM_001328100.1:c.851-2675C>G (ESR1)	NP_001315029.1:n.851-2675C>G
NM_001347701.1:c.*50G>C (SYNE1)	NP_001334630.1:n.*50G>C
NM_001347702.1:c.2773G>C (SYNE1)	NP_001334631.1:p.Ala925Pro
XM_006715408.2:c.26374G>C (SYNE1)	XP_006715471.1:p.Ala8792Pro
XM_006715410.2:c.26344G>C (SYNE1)	XP_006715473.1:p.Ala8782Pro
XM_006715412.2:c.26329G>C (SYNE1)	XP_006715475.1:p.Ala8777Pro
XM_006715413.2:c.26317G>C (SYNE1)	XP_006715476.1:p.Ala8773Pro
XM_006715415.2:c.26275G>C (SYNE1)	XP_006715478.1:p.Ala8759Pro
XM_006715416.2:c.26260G>C (SYNE1)	XP_006715479.1:p.Ala8754Pro
XM_006715417.2:c.26245G>C (SYNE1)	XP_006715480.1:p.Ala8749Pro
XM_006715420.2:c.26233G>C (SYNE1)	XP_006715483.1:p.Ala8745Pro
XM_006715421.2:c.26230G>C (SYNE1)	XP_006715484.1:p.Ala8744Pro
XM_006715423.2:c.*50G>C (SYNE1)	XP_006715486.1:n.*50G>C
XM_006715424.2:c.*50G>C (SYNE1)	XP_006715487.1:n.*50G>C
XM_006715425.2:c.*50G>C (SYNE1)	XP_006715488.1:n.*50G>C
XM_011535641.2:c.26383G>C (SYNE1)	XP_011533943.1:p.Ala8795Pro
XM_011535642.2:c.26371G>C (SYNE1)	XP_011533944.1:p.Ala8791Pro
XM_011535645.2:c.24154G>C (SYNE1)	XP_011533947.1:p.Ala8052Pro
XM_017010608.1:c.26386G>C (SYNE1)	XP_016866097.1:p.Ala8796Pro
XM_017010609.1:c.26386G>C (SYNE1)	XP_016866098.1:p.Ala8796Pro
XM_017010610.1:c.26365G>C (SYNE1)	XP_016866099.1:p.Ala8789Pro
XM_017010611.2:c.26359G>C (SYNE1)	XP_016866100.1:p.Ala8787Pro
XM_017010612.1:c.26308G>C (SYNE1)	XP_016866101.1:p.Ala8770Pro
XM_017010613.1:c.26272G>C (SYNE1)	XP_016866102.1:p.Ala8758Pro
XM_017010614.1:c.26230G>C (SYNE1)	XP_016866103.1:p.Ala8744Pro
XM_017010615.1:c.26119G>C (SYNE1)	XP_016866104.1:p.Ala8707Pro
XM_017010616.1:c.*50G>C (SYNE1)	XP_016866105.1:n.*50G>C
XM_017010617.1:c.*50G>C (SYNE1)	XP_016866106.1:n.*50G>C
XM_017010618.1:c.*50G>C (SYNE1)	XP_016866107.1:n.*50G>C
XM_017010619.1:c.24661G>C (SYNE1)	XP_016866108.1:p.Ala8221Pro
NM_182961.4:c.26239G>C (SYNE1) MANE Select	NP_892006.3:p.Ala8747Pro
NM_001328100.2:c.851-2675C>G (ESR1)	NP_001315029.1:n.851-2675C>G
NM_001347701.2:c.*50G>C (SYNE1)	NP_001334630.1:n.*50G>C
NM_001347702.2:c.2773G>C (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Ala925Pro
NM_033071.5:c.26095G>C (SYNE1)	NP_149062.2:p.Ala8699Pro