Canonical Allele Identifier: CA366088730

Gene: SYNE1 ESR1

Linked Data

• ClinVar Variation Id: 2436576
• ClinVar RCV Id: RCV003138912
• dbSNP Id: rs1182754638
• gnomAD v2: 6-152443654-C-T
• gnomAD v4: 6-152122519-C-T
• MyVariant Identifiers: chr6:g.152443654C>T (hg19) ; chr6:g.152122519C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122519C>T , CM000668.2:g.152122519C>T	GRCh38
NC_000006.11:g.152443654C>T , CM000668.1:g.152443654C>T	GRCh37
NC_000006.10:g.152485347C>T	NCBI36
NG_012855.1:g.519881G>A
NG_008493.2:g.470829C>T
NG_012855.2:g.519881G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000354674.5:c.2845G>A (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Asp949Asn
ENST00000367255.10:c.26311G>A (SYNE1) MANE Select	ENSP00000356224.5:p.Asp8771Asn
ENST00000423061.6:c.26167G>A (SYNE1)	ENSP00000396024.1:p.Asp8723Asn
ENST00000672154.1:c.1654G>A (SYNE1)
ENST00000672169.1:c.2029G>A (SYNE1)
ENST00000673173.1:c.1896G>A (SYNE1)
ENST00000673451.1:c.2161G>A (SYNE1)	ENSP00000500189.1:n.2161G>A
ENST00000341594.9:c.25096G>A (SYNE1)	ENSP00000341887.6:p.Asp8366Asn
ENST00000347037.9:n.3059G>A (SYNE1)
ENST00000354674.4:c.2845G>A (SYNE1)	ENSP00000346701.4:p.Asp949Asn
ENST00000367251.7:c.5087G>A (SYNE1)	ENSP00000356220.3:n.5087G>A
ENST00000367255.9:c.26311G>A (SYNE1)	ENSP00000356224.5:p.Asp8771Asn
ENST00000367256.9:n.10003G>A (SYNE1)
ENST00000367257.8:c.4190G>A (SYNE1)	ENSP00000356226.4:n.4190G>A
ENST00000409694.6:n.9895G>A (SYNE1)
ENST00000423061.5:c.26167G>A (SYNE1)	ENSP00000396024.1:p.Asp8723Asn
ENST00000427531.6:c.851-2747C>T (ESR1)	ENSP00000394721.2:n.851-2747C>T
ENST00000460912.6:n.2925G>A (SYNE1)
ENST00000478916.5:n.6948G>A (SYNE1)
ENST00000539504.5:c.2776G>A (SYNE1)	ENSP00000441052.1:p.Asp926Asn
NM_033071.3:c.26167G>A (SYNE1)	NP_149062.1:p.Asp8723Asn
NM_182961.3:c.26311G>A (SYNE1)	NP_892006.3:p.Asp8771Asn
XM_006715407.1:c.26458G>A (SYNE1)	XP_006715470.1:p.Asp8820Asn
XM_006715408.1:c.26446G>A (SYNE1)	XP_006715471.1:p.Asp8816Asn
XM_006715409.1:c.26437G>A (SYNE1)	XP_006715472.1:p.Asp8813Asn
XM_006715410.1:c.26416G>A (SYNE1)	XP_006715473.1:p.Asp8806Asn
XM_006715411.1:c.26407G>A (SYNE1)	XP_006715474.1:p.Asp8803Asn
XM_006715412.1:c.26401G>A (SYNE1)	XP_006715475.1:p.Asp8801Asn
XM_006715413.1:c.26389G>A (SYNE1)	XP_006715476.1:p.Asp8797Asn
XM_006715414.1:c.26386G>A (SYNE1)	XP_006715477.1:p.Asp8796Asn
XM_006715415.1:c.26347G>A (SYNE1)	XP_006715478.1:p.Asp8783Asn
XM_006715416.1:c.26332G>A (SYNE1)	XP_006715479.1:p.Asp8778Asn
XM_006715417.1:c.26317G>A (SYNE1)	XP_006715480.1:p.Asp8773Asn
XM_006715420.1:c.26305G>A (SYNE1)	XP_006715483.1:p.Asp8769Asn
XM_006715421.1:c.26302G>A (SYNE1)	XP_006715484.1:p.Asp8768Asn
XM_006715422.1:c.26299G>A (SYNE1)	XP_006715485.1:p.Asp8767Asn
XM_006715423.1:c.*122G>A (SYNE1)	XP_006715486.1:n.*122G>A
XM_006715424.1:c.*122G>A (SYNE1)	XP_006715487.1:n.*122G>A
XM_006715425.1:c.*122G>A (SYNE1)	XP_006715488.1:n.*122G>A
XM_011535641.1:c.26455G>A (SYNE1)	XP_011533943.1:p.Asp8819Asn
XM_011535642.1:c.26443G>A (SYNE1)	XP_011533944.1:p.Asp8815Asn
XM_011535643.1:c.26293G>A (SYNE1)	XP_011533945.1:p.Asp8765Asn
XM_011535644.1:c.24733G>A (SYNE1)	XP_011533946.1:p.Asp8245Asn
XM_011535645.1:c.24226G>A (SYNE1)	XP_011533947.1:p.Asp8076Asn
XM_011535647.1:c.19693G>A (SYNE1)	XP_011533949.1:p.Asp6565Asn
NM_001328100.1:c.851-2747C>T (ESR1)	NP_001315029.1:n.851-2747C>T
NM_001347701.1:c.*122G>A (SYNE1)	NP_001334630.1:n.*122G>A
NM_001347702.1:c.2845G>A (SYNE1)	NP_001334631.1:p.Asp949Asn
XM_006715408.2:c.26446G>A (SYNE1)	XP_006715471.1:p.Asp8816Asn
XM_006715410.2:c.26416G>A (SYNE1)	XP_006715473.1:p.Asp8806Asn
XM_006715412.2:c.26401G>A (SYNE1)	XP_006715475.1:p.Asp8801Asn
XM_006715413.2:c.26389G>A (SYNE1)	XP_006715476.1:p.Asp8797Asn
XM_006715415.2:c.26347G>A (SYNE1)	XP_006715478.1:p.Asp8783Asn
XM_006715416.2:c.26332G>A (SYNE1)	XP_006715479.1:p.Asp8778Asn
XM_006715417.2:c.26317G>A (SYNE1)	XP_006715480.1:p.Asp8773Asn
XM_006715420.2:c.26305G>A (SYNE1)	XP_006715483.1:p.Asp8769Asn
XM_006715421.2:c.26302G>A (SYNE1)	XP_006715484.1:p.Asp8768Asn
XM_006715423.2:c.*122G>A (SYNE1)	XP_006715486.1:n.*122G>A
XM_006715424.2:c.*122G>A (SYNE1)	XP_006715487.1:n.*122G>A
XM_006715425.2:c.*122G>A (SYNE1)	XP_006715488.1:n.*122G>A
XM_011535641.2:c.26455G>A (SYNE1)	XP_011533943.1:p.Asp8819Asn
XM_011535642.2:c.26443G>A (SYNE1)	XP_011533944.1:p.Asp8815Asn
XM_011535645.2:c.24226G>A (SYNE1)	XP_011533947.1:p.Asp8076Asn
XM_017010608.1:c.26458G>A (SYNE1)	XP_016866097.1:p.Asp8820Asn
XM_017010609.1:c.26458G>A (SYNE1)	XP_016866098.1:p.Asp8820Asn
XM_017010610.1:c.26437G>A (SYNE1)	XP_016866099.1:p.Asp8813Asn
XM_017010611.2:c.26431G>A (SYNE1)	XP_016866100.1:p.Asp8811Asn
XM_017010612.1:c.26380G>A (SYNE1)	XP_016866101.1:p.Asp8794Asn
XM_017010613.1:c.26344G>A (SYNE1)	XP_016866102.1:p.Asp8782Asn
XM_017010614.1:c.26302G>A (SYNE1)	XP_016866103.1:p.Asp8768Asn
XM_017010615.1:c.26191G>A (SYNE1)	XP_016866104.1:p.Asp8731Asn
XM_017010616.1:c.*122G>A (SYNE1)	XP_016866105.1:n.*122G>A
XM_017010617.1:c.*122G>A (SYNE1)	XP_016866106.1:n.*122G>A
XM_017010618.1:c.*122G>A (SYNE1)	XP_016866107.1:n.*122G>A
XM_017010619.1:c.24733G>A (SYNE1)	XP_016866108.1:p.Asp8245Asn
NM_182961.4:c.26311G>A (SYNE1) MANE Select	NP_892006.3:p.Asp8771Asn
NM_001328100.2:c.851-2747C>T (ESR1)	NP_001315029.1:n.851-2747C>T
NM_001347701.2:c.*122G>A (SYNE1)	NP_001334630.1:n.*122G>A
NM_001347702.2:c.2845G>A (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Asp949Asn
NM_033071.5:c.26167G>A (SYNE1)	NP_149062.2:p.Asp8723Asn