Canonical Allele Identifier: CA366089151

Gene: SYNE1 ESR1

Linked Data

• gnomAD v4: 6-152122627-G-C
• MyVariant Identifiers: chr6:g.152443762G>C (hg19) ; chr6:g.152122627G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122627G>C , CM000668.2:g.152122627G>C	GRCh38
NC_000006.11:g.152443762G>C , CM000668.1:g.152443762G>C	GRCh37
NC_000006.10:g.152485455G>C	NCBI36
NG_012855.1:g.519773C>G
NG_008493.2:g.470937G>C
NG_012855.2:g.519773C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000354674.5:c.2737C>G (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Arg913Gly
ENST00000367255.10:c.26203C>G (SYNE1) MANE Select	ENSP00000356224.5:p.Arg8735Gly
ENST00000423061.6:c.26059C>G (SYNE1)	ENSP00000396024.1:p.Arg8687Gly
ENST00000672154.1:c.1546C>G (SYNE1)
ENST00000672169.1:c.1921C>G (SYNE1)
ENST00000673173.1:c.1788C>G (SYNE1)
ENST00000673451.1:c.2053C>G (SYNE1)	ENSP00000500189.1:n.2053C>G
ENST00000341594.9:c.24988C>G (SYNE1)	ENSP00000341887.6:p.Arg8330Gly
ENST00000347037.9:n.2951C>G (SYNE1)
ENST00000354674.4:c.2737C>G (SYNE1)	ENSP00000346701.4:p.Arg913Gly
ENST00000367251.7:c.4979C>G (SYNE1)	ENSP00000356220.3:n.4979C>G
ENST00000367255.9:c.26203C>G (SYNE1)	ENSP00000356224.5:p.Arg8735Gly
ENST00000367256.9:n.9895C>G (SYNE1)
ENST00000367257.8:c.4082C>G (SYNE1)	ENSP00000356226.4:n.4082C>G
ENST00000409694.6:n.9787C>G (SYNE1)
ENST00000423061.5:c.26059C>G (SYNE1)	ENSP00000396024.1:p.Arg8687Gly
ENST00000427531.6:c.851-2639G>C (ESR1)	ENSP00000394721.2:n.851-2639G>C
ENST00000460912.6:n.2817C>G (SYNE1)
ENST00000478916.5:n.6840C>G (SYNE1)
ENST00000536990.5:n.2981C>G (SYNE1)
ENST00000539504.5:c.2668C>G (SYNE1)	ENSP00000441052.1:p.Arg890Gly
NM_033071.3:c.26059C>G (SYNE1)	NP_149062.1:p.Arg8687Gly
NM_182961.3:c.26203C>G (SYNE1)	NP_892006.3:p.Arg8735Gly
XM_006715407.1:c.26350C>G (SYNE1)	XP_006715470.1:p.Arg8784Gly
XM_006715408.1:c.26338C>G (SYNE1)	XP_006715471.1:p.Arg8780Gly
XM_006715409.1:c.26329C>G (SYNE1)	XP_006715472.1:p.Arg8777Gly
XM_006715410.1:c.26308C>G (SYNE1)	XP_006715473.1:p.Arg8770Gly
XM_006715411.1:c.26299C>G (SYNE1)	XP_006715474.1:p.Arg8767Gly
XM_006715412.1:c.26293C>G (SYNE1)	XP_006715475.1:p.Arg8765Gly
XM_006715413.1:c.26281C>G (SYNE1)	XP_006715476.1:p.Arg8761Gly
XM_006715414.1:c.26278C>G (SYNE1)	XP_006715477.1:p.Arg8760Gly
XM_006715415.1:c.26239C>G (SYNE1)	XP_006715478.1:p.Arg8747Gly
XM_006715416.1:c.26224C>G (SYNE1)	XP_006715479.1:p.Arg8742Gly
XM_006715417.1:c.26209C>G (SYNE1)	XP_006715480.1:p.Arg8737Gly
XM_006715420.1:c.26197C>G (SYNE1)	XP_006715483.1:p.Arg8733Gly
XM_006715421.1:c.26194C>G (SYNE1)	XP_006715484.1:p.Arg8732Gly
XM_006715422.1:c.26191C>G (SYNE1)	XP_006715485.1:p.Arg8731Gly
XM_006715423.1:c.*14C>G (SYNE1)	XP_006715486.1:n.*14C>G
XM_006715424.1:c.*14C>G (SYNE1)	XP_006715487.1:n.*14C>G
XM_006715425.1:c.*14C>G (SYNE1)	XP_006715488.1:n.*14C>G
XM_011535641.1:c.26347C>G (SYNE1)	XP_011533943.1:p.Arg8783Gly
XM_011535642.1:c.26335C>G (SYNE1)	XP_011533944.1:p.Arg8779Gly
XM_011535643.1:c.26185C>G (SYNE1)	XP_011533945.1:p.Arg8729Gly
XM_011535644.1:c.24625C>G (SYNE1)	XP_011533946.1:p.Arg8209Gly
XM_011535645.1:c.24118C>G (SYNE1)	XP_011533947.1:p.Arg8040Gly
XM_011535647.1:c.19585C>G (SYNE1)	XP_011533949.1:p.Arg6529Gly
NM_001328100.1:c.851-2639G>C (ESR1)	NP_001315029.1:n.851-2639G>C
NM_001347701.1:c.*14C>G (SYNE1)	NP_001334630.1:n.*14C>G
NM_001347702.1:c.2737C>G (SYNE1)	NP_001334631.1:p.Arg913Gly
XM_006715408.2:c.26338C>G (SYNE1)	XP_006715471.1:p.Arg8780Gly
XM_006715410.2:c.26308C>G (SYNE1)	XP_006715473.1:p.Arg8770Gly
XM_006715412.2:c.26293C>G (SYNE1)	XP_006715475.1:p.Arg8765Gly
XM_006715413.2:c.26281C>G (SYNE1)	XP_006715476.1:p.Arg8761Gly
XM_006715415.2:c.26239C>G (SYNE1)	XP_006715478.1:p.Arg8747Gly
XM_006715416.2:c.26224C>G (SYNE1)	XP_006715479.1:p.Arg8742Gly
XM_006715417.2:c.26209C>G (SYNE1)	XP_006715480.1:p.Arg8737Gly
XM_006715420.2:c.26197C>G (SYNE1)	XP_006715483.1:p.Arg8733Gly
XM_006715421.2:c.26194C>G (SYNE1)	XP_006715484.1:p.Arg8732Gly
XM_006715423.2:c.*14C>G (SYNE1)	XP_006715486.1:n.*14C>G
XM_006715424.2:c.*14C>G (SYNE1)	XP_006715487.1:n.*14C>G
XM_006715425.2:c.*14C>G (SYNE1)	XP_006715488.1:n.*14C>G
XM_011535641.2:c.26347C>G (SYNE1)	XP_011533943.1:p.Arg8783Gly
XM_011535642.2:c.26335C>G (SYNE1)	XP_011533944.1:p.Arg8779Gly
XM_011535645.2:c.24118C>G (SYNE1)	XP_011533947.1:p.Arg8040Gly
XM_017010608.1:c.26350C>G (SYNE1)	XP_016866097.1:p.Arg8784Gly
XM_017010609.1:c.26350C>G (SYNE1)	XP_016866098.1:p.Arg8784Gly
XM_017010610.1:c.26329C>G (SYNE1)	XP_016866099.1:p.Arg8777Gly
XM_017010611.2:c.26323C>G (SYNE1)	XP_016866100.1:p.Arg8775Gly
XM_017010612.1:c.26272C>G (SYNE1)	XP_016866101.1:p.Arg8758Gly
XM_017010613.1:c.26236C>G (SYNE1)	XP_016866102.1:p.Arg8746Gly
XM_017010614.1:c.26194C>G (SYNE1)	XP_016866103.1:p.Arg8732Gly
XM_017010615.1:c.26083C>G (SYNE1)	XP_016866104.1:p.Arg8695Gly
XM_017010616.1:c.*14C>G (SYNE1)	XP_016866105.1:n.*14C>G
XM_017010617.1:c.*14C>G (SYNE1)	XP_016866106.1:n.*14C>G
XM_017010618.1:c.*14C>G (SYNE1)	XP_016866107.1:n.*14C>G
XM_017010619.1:c.24625C>G (SYNE1)	XP_016866108.1:p.Arg8209Gly
NM_182961.4:c.26203C>G (SYNE1) MANE Select	NP_892006.3:p.Arg8735Gly
NM_001328100.2:c.851-2639G>C (ESR1)	NP_001315029.1:n.851-2639G>C
NM_001347701.2:c.*14C>G (SYNE1)	NP_001334630.1:n.*14C>G
NM_001347702.2:c.2737C>G (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Arg913Gly
NM_033071.5:c.26059C>G (SYNE1)	NP_149062.2:p.Arg8687Gly