Canonical Allele Identifier: CA366089283

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443810A>C (hg19) ; chr6:g.152122675A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122675A>C , CM000668.2:g.152122675A>C	GRCh38
NC_000006.11:g.152443810A>C , CM000668.1:g.152443810A>C	GRCh37
NC_000006.10:g.152485503A>C	NCBI36
NG_012855.1:g.519725T>G
NG_008493.2:g.470985A>C
NG_012855.2:g.519725T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2689T>G (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Ser897Ala
ENST00000367255.10:c.26155T>G (SYNE1) MANE Select	ENSP00000356224.5:p.Ser8719Ala
ENST00000423061.6:c.26011T>G (SYNE1)	ENSP00000396024.1:p.Ser8671Ala
ENST00000672154.1:c.1498T>G (SYNE1)
ENST00000672169.1:c.1873T>G (SYNE1)
ENST00000673173.1:c.1740T>G (SYNE1)
ENST00000673451.1:c.2005T>G (SYNE1)	ENSP00000500189.1:n.2005T>G
ENST00000341594.9:c.24940T>G (SYNE1)	ENSP00000341887.6:p.Ser8314Ala
ENST00000347037.9:n.2903T>G (SYNE1)
ENST00000354674.4:c.2689T>G (SYNE1)	ENSP00000346701.4:p.Ser897Ala
ENST00000367251.7:c.4931T>G (SYNE1)	ENSP00000356220.3:p.Val1644Gly
ENST00000367255.9:c.26155T>G (SYNE1)	ENSP00000356224.5:p.Ser8719Ala
ENST00000367256.9:n.9847T>G (SYNE1)
ENST00000367257.8:c.4034T>G (SYNE1)	ENSP00000356226.4:p.Val1345Gly
ENST00000409694.6:n.9739T>G (SYNE1)
ENST00000423061.5:c.26011T>G (SYNE1)	ENSP00000396024.1:p.Ser8671Ala
ENST00000427531.6:c.851-2591A>C (ESR1)	ENSP00000394721.2:n.851-2591A>C
ENST00000460912.6:n.2769T>G (SYNE1)
ENST00000478916.5:n.6792T>G (SYNE1)
ENST00000536990.5:n.2933T>G (SYNE1)
ENST00000539504.5:c.2620T>G (SYNE1)	ENSP00000441052.1:p.Ser874Ala
NM_033071.3:c.26011T>G (SYNE1)	NP_149062.1:p.Ser8671Ala
NM_182961.3:c.26155T>G (SYNE1)	NP_892006.3:p.Ser8719Ala
XM_006715407.1:c.26302T>G (SYNE1)	XP_006715470.1:p.Ser8768Ala
XM_006715408.1:c.26290T>G (SYNE1)	XP_006715471.1:p.Ser8764Ala
XM_006715409.1:c.26281T>G (SYNE1)	XP_006715472.1:p.Ser8761Ala
XM_006715410.1:c.26260T>G (SYNE1)	XP_006715473.1:p.Ser8754Ala
XM_006715411.1:c.26251T>G (SYNE1)	XP_006715474.1:p.Ser8751Ala
XM_006715412.1:c.26245T>G (SYNE1)	XP_006715475.1:p.Ser8749Ala
XM_006715413.1:c.26233T>G (SYNE1)	XP_006715476.1:p.Ser8745Ala
XM_006715414.1:c.26230T>G (SYNE1)	XP_006715477.1:p.Ser8744Ala
XM_006715415.1:c.26191T>G (SYNE1)	XP_006715478.1:p.Ser8731Ala
XM_006715416.1:c.26176T>G (SYNE1)	XP_006715479.1:p.Ser8726Ala
XM_006715417.1:c.26161T>G (SYNE1)	XP_006715480.1:p.Ser8721Ala
XM_006715420.1:c.26149T>G (SYNE1)	XP_006715483.1:p.Ser8717Ala
XM_006715421.1:c.26146T>G (SYNE1)	XP_006715484.1:p.Ser8716Ala
XM_006715422.1:c.26143T>G (SYNE1)	XP_006715485.1:p.Ser8715Ala
XM_006715423.1:c.26243T>G (SYNE1)	XP_006715486.1:p.Val8748Gly
XM_006715424.1:c.26201T>G (SYNE1)	XP_006715487.1:p.Val8734Gly
XM_006715425.1:c.26132T>G (SYNE1)	XP_006715488.1:p.Val8711Gly
XM_011535641.1:c.26299T>G (SYNE1)	XP_011533943.1:p.Ser8767Ala
XM_011535642.1:c.26287T>G (SYNE1)	XP_011533944.1:p.Ser8763Ala
XM_011535643.1:c.26137T>G (SYNE1)	XP_011533945.1:p.Ser8713Ala
XM_011535644.1:c.24577T>G (SYNE1)	XP_011533946.1:p.Ser8193Ala
XM_011535645.1:c.24070T>G (SYNE1)	XP_011533947.1:p.Ser8024Ala
XM_011535647.1:c.19537T>G (SYNE1)	XP_011533949.1:p.Ser6513Ala
NM_001328100.1:c.851-2591A>C (ESR1)	NP_001315029.1:n.851-2591A>C
NM_001347701.1:c.2702T>G (SYNE1)	NP_001334630.1:p.Val901Gly
NM_001347702.1:c.2689T>G (SYNE1)	NP_001334631.1:p.Ser897Ala
XM_006715408.2:c.26290T>G (SYNE1)	XP_006715471.1:p.Ser8764Ala
XM_006715410.2:c.26260T>G (SYNE1)	XP_006715473.1:p.Ser8754Ala
XM_006715412.2:c.26245T>G (SYNE1)	XP_006715475.1:p.Ser8749Ala
XM_006715413.2:c.26233T>G (SYNE1)	XP_006715476.1:p.Ser8745Ala
XM_006715415.2:c.26191T>G (SYNE1)	XP_006715478.1:p.Ser8731Ala
XM_006715416.2:c.26176T>G (SYNE1)	XP_006715479.1:p.Ser8726Ala
XM_006715417.2:c.26161T>G (SYNE1)	XP_006715480.1:p.Ser8721Ala
XM_006715420.2:c.26149T>G (SYNE1)	XP_006715483.1:p.Ser8717Ala
XM_006715421.2:c.26146T>G (SYNE1)	XP_006715484.1:p.Ser8716Ala
XM_006715423.2:c.26243T>G (SYNE1)	XP_006715486.1:p.Val8748Gly
XM_006715424.2:c.26201T>G (SYNE1)	XP_006715487.1:p.Val8734Gly
XM_006715425.2:c.26132T>G (SYNE1)	XP_006715488.1:p.Val8711Gly
XM_011535641.2:c.26299T>G (SYNE1)	XP_011533943.1:p.Ser8767Ala
XM_011535642.2:c.26287T>G (SYNE1)	XP_011533944.1:p.Ser8763Ala
XM_011535645.2:c.24070T>G (SYNE1)	XP_011533947.1:p.Ser8024Ala
XM_017010608.1:c.26302T>G (SYNE1)	XP_016866097.1:p.Ser8768Ala
XM_017010609.1:c.26302T>G (SYNE1)	XP_016866098.1:p.Ser8768Ala
XM_017010610.1:c.26281T>G (SYNE1)	XP_016866099.1:p.Ser8761Ala
XM_017010611.2:c.26275T>G (SYNE1)	XP_016866100.1:p.Ser8759Ala
XM_017010612.1:c.26224T>G (SYNE1)	XP_016866101.1:p.Ser8742Ala
XM_017010613.1:c.26188T>G (SYNE1)	XP_016866102.1:p.Ser8730Ala
XM_017010614.1:c.26146T>G (SYNE1)	XP_016866103.1:p.Ser8716Ala
XM_017010615.1:c.26035T>G (SYNE1)	XP_016866104.1:p.Ser8679Ala
XM_017010616.1:c.26174T>G (SYNE1)	XP_016866105.1:p.Val8725Gly
XM_017010617.1:c.26129T>G (SYNE1)	XP_016866106.1:p.Val8710Gly
XM_017010618.1:c.26117T>G (SYNE1)	XP_016866107.1:p.Val8706Gly
XM_017010619.1:c.24577T>G (SYNE1)	XP_016866108.1:p.Ser8193Ala
NM_182961.4:c.26155T>G (SYNE1) MANE Select	NP_892006.3:p.Ser8719Ala
NM_001328100.2:c.851-2591A>C (ESR1)	NP_001315029.1:n.851-2591A>C
NM_001347701.2:c.2702T>G (SYNE1)	NP_001334630.1:p.Val901Gly
NM_001347702.2:c.2689T>G (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Ser897Ala
NM_033071.5:c.26011T>G (SYNE1)	NP_149062.2:p.Ser8671Ala