Canonical Allele Identifier: CA366089121

Gene: SYNE1 ESR1

Linked Data

• gnomAD v4: 6-152122618-G-C
• MyVariant Identifiers: chr6:g.152443753G>C (hg19) ; chr6:g.152122618G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122618G>C , CM000668.2:g.152122618G>C	GRCh38
NC_000006.11:g.152443753G>C , CM000668.1:g.152443753G>C	GRCh37
NC_000006.10:g.152485446G>C	NCBI36
NG_012855.1:g.519782C>G
NG_008493.2:g.470928G>C
NG_012855.2:g.519782C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000354674.5:c.2746C>G (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Arg916Gly
ENST00000367255.10:c.26212C>G (SYNE1) MANE Select	ENSP00000356224.5:p.Arg8738Gly
ENST00000423061.6:c.26068C>G (SYNE1)	ENSP00000396024.1:p.Arg8690Gly
ENST00000672154.1:c.1555C>G (SYNE1)
ENST00000672169.1:c.1930C>G (SYNE1)
ENST00000673173.1:c.1797C>G (SYNE1)
ENST00000673451.1:c.2062C>G (SYNE1)	ENSP00000500189.1:n.2062C>G
ENST00000341594.9:c.24997C>G (SYNE1)	ENSP00000341887.6:p.Arg8333Gly
ENST00000347037.9:n.2960C>G (SYNE1)
ENST00000354674.4:c.2746C>G (SYNE1)	ENSP00000346701.4:p.Arg916Gly
ENST00000367251.7:c.4988C>G (SYNE1)	ENSP00000356220.3:n.4988C>G
ENST00000367255.9:c.26212C>G (SYNE1)	ENSP00000356224.5:p.Arg8738Gly
ENST00000367256.9:n.9904C>G (SYNE1)
ENST00000367257.8:c.4091C>G (SYNE1)	ENSP00000356226.4:n.4091C>G
ENST00000409694.6:n.9796C>G (SYNE1)
ENST00000423061.5:c.26068C>G (SYNE1)	ENSP00000396024.1:p.Arg8690Gly
ENST00000427531.6:c.851-2648G>C (ESR1)	ENSP00000394721.2:n.851-2648G>C
ENST00000460912.6:n.2826C>G (SYNE1)
ENST00000478916.5:n.6849C>G (SYNE1)
ENST00000536990.5:n.2990C>G (SYNE1)
ENST00000539504.5:c.2677C>G (SYNE1)	ENSP00000441052.1:p.Arg893Gly
NM_033071.3:c.26068C>G (SYNE1)	NP_149062.1:p.Arg8690Gly
NM_182961.3:c.26212C>G (SYNE1)	NP_892006.3:p.Arg8738Gly
XM_006715407.1:c.26359C>G (SYNE1)	XP_006715470.1:p.Arg8787Gly
XM_006715408.1:c.26347C>G (SYNE1)	XP_006715471.1:p.Arg8783Gly
XM_006715409.1:c.26338C>G (SYNE1)	XP_006715472.1:p.Arg8780Gly
XM_006715410.1:c.26317C>G (SYNE1)	XP_006715473.1:p.Arg8773Gly
XM_006715411.1:c.26308C>G (SYNE1)	XP_006715474.1:p.Arg8770Gly
XM_006715412.1:c.26302C>G (SYNE1)	XP_006715475.1:p.Arg8768Gly
XM_006715413.1:c.26290C>G (SYNE1)	XP_006715476.1:p.Arg8764Gly
XM_006715414.1:c.26287C>G (SYNE1)	XP_006715477.1:p.Arg8763Gly
XM_006715415.1:c.26248C>G (SYNE1)	XP_006715478.1:p.Arg8750Gly
XM_006715416.1:c.26233C>G (SYNE1)	XP_006715479.1:p.Arg8745Gly
XM_006715417.1:c.26218C>G (SYNE1)	XP_006715480.1:p.Arg8740Gly
XM_006715420.1:c.26206C>G (SYNE1)	XP_006715483.1:p.Arg8736Gly
XM_006715421.1:c.26203C>G (SYNE1)	XP_006715484.1:p.Arg8735Gly
XM_006715422.1:c.26200C>G (SYNE1)	XP_006715485.1:p.Arg8734Gly
XM_006715423.1:c.*23C>G (SYNE1)	XP_006715486.1:n.*23C>G
XM_006715424.1:c.*23C>G (SYNE1)	XP_006715487.1:n.*23C>G
XM_006715425.1:c.*23C>G (SYNE1)	XP_006715488.1:n.*23C>G
XM_011535641.1:c.26356C>G (SYNE1)	XP_011533943.1:p.Arg8786Gly
XM_011535642.1:c.26344C>G (SYNE1)	XP_011533944.1:p.Arg8782Gly
XM_011535643.1:c.26194C>G (SYNE1)	XP_011533945.1:p.Arg8732Gly
XM_011535644.1:c.24634C>G (SYNE1)	XP_011533946.1:p.Arg8212Gly
XM_011535645.1:c.24127C>G (SYNE1)	XP_011533947.1:p.Arg8043Gly
XM_011535647.1:c.19594C>G (SYNE1)	XP_011533949.1:p.Arg6532Gly
NM_001328100.1:c.851-2648G>C (ESR1)	NP_001315029.1:n.851-2648G>C
NM_001347701.1:c.*23C>G (SYNE1)	NP_001334630.1:n.*23C>G
NM_001347702.1:c.2746C>G (SYNE1)	NP_001334631.1:p.Arg916Gly
XM_006715408.2:c.26347C>G (SYNE1)	XP_006715471.1:p.Arg8783Gly
XM_006715410.2:c.26317C>G (SYNE1)	XP_006715473.1:p.Arg8773Gly
XM_006715412.2:c.26302C>G (SYNE1)	XP_006715475.1:p.Arg8768Gly
XM_006715413.2:c.26290C>G (SYNE1)	XP_006715476.1:p.Arg8764Gly
XM_006715415.2:c.26248C>G (SYNE1)	XP_006715478.1:p.Arg8750Gly
XM_006715416.2:c.26233C>G (SYNE1)	XP_006715479.1:p.Arg8745Gly
XM_006715417.2:c.26218C>G (SYNE1)	XP_006715480.1:p.Arg8740Gly
XM_006715420.2:c.26206C>G (SYNE1)	XP_006715483.1:p.Arg8736Gly
XM_006715421.2:c.26203C>G (SYNE1)	XP_006715484.1:p.Arg8735Gly
XM_006715423.2:c.*23C>G (SYNE1)	XP_006715486.1:n.*23C>G
XM_006715424.2:c.*23C>G (SYNE1)	XP_006715487.1:n.*23C>G
XM_006715425.2:c.*23C>G (SYNE1)	XP_006715488.1:n.*23C>G
XM_011535641.2:c.26356C>G (SYNE1)	XP_011533943.1:p.Arg8786Gly
XM_011535642.2:c.26344C>G (SYNE1)	XP_011533944.1:p.Arg8782Gly
XM_011535645.2:c.24127C>G (SYNE1)	XP_011533947.1:p.Arg8043Gly
XM_017010608.1:c.26359C>G (SYNE1)	XP_016866097.1:p.Arg8787Gly
XM_017010609.1:c.26359C>G (SYNE1)	XP_016866098.1:p.Arg8787Gly
XM_017010610.1:c.26338C>G (SYNE1)	XP_016866099.1:p.Arg8780Gly
XM_017010611.2:c.26332C>G (SYNE1)	XP_016866100.1:p.Arg8778Gly
XM_017010612.1:c.26281C>G (SYNE1)	XP_016866101.1:p.Arg8761Gly
XM_017010613.1:c.26245C>G (SYNE1)	XP_016866102.1:p.Arg8749Gly
XM_017010614.1:c.26203C>G (SYNE1)	XP_016866103.1:p.Arg8735Gly
XM_017010615.1:c.26092C>G (SYNE1)	XP_016866104.1:p.Arg8698Gly
XM_017010616.1:c.*23C>G (SYNE1)	XP_016866105.1:n.*23C>G
XM_017010617.1:c.*23C>G (SYNE1)	XP_016866106.1:n.*23C>G
XM_017010618.1:c.*23C>G (SYNE1)	XP_016866107.1:n.*23C>G
XM_017010619.1:c.24634C>G (SYNE1)	XP_016866108.1:p.Arg8212Gly
NM_182961.4:c.26212C>G (SYNE1) MANE Select	NP_892006.3:p.Arg8738Gly
NM_001328100.2:c.851-2648G>C (ESR1)	NP_001315029.1:n.851-2648G>C
NM_001347701.2:c.*23C>G (SYNE1)	NP_001334630.1:n.*23C>G
NM_001347702.2:c.2746C>G (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Arg916Gly
NM_033071.5:c.26068C>G (SYNE1)	NP_149062.2:p.Arg8690Gly