Canonical Allele Identifier: CA366088726

Gene: SYNE1 ESR1

Linked Data

• dbSNP Id: rs1182754638
• gnomAD v2: 6-152443654-C-A
• gnomAD v3: 6-152122519-C-A
• gnomAD v4: 6-152122519-C-A
• MyVariant Identifiers: chr6:g.152443654C>A (hg19) ; chr6:g.152122519C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2845G>T (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Asp949Tyr
ENST00000367255.10:c.26311G>T (SYNE1) MANE Select	ENSP00000356224.5:p.Asp8771Tyr
ENST00000423061.6:c.26167G>T (SYNE1)	ENSP00000396024.1:p.Asp8723Tyr
ENST00000672154.1:c.1654G>T (SYNE1)
ENST00000672169.1:c.2029G>T (SYNE1)
ENST00000673173.1:c.1896G>T (SYNE1)
ENST00000673451.1:c.2161G>T (SYNE1)	ENSP00000500189.1:n.2161G>T
ENST00000341594.9:c.25096G>T (SYNE1)	ENSP00000341887.6:p.Asp8366Tyr
ENST00000347037.9:n.3059G>T (SYNE1)
ENST00000354674.4:c.2845G>T (SYNE1)	ENSP00000346701.4:p.Asp949Tyr
ENST00000367251.7:c.5087G>T (SYNE1)	ENSP00000356220.3:n.5087G>T
ENST00000367255.9:c.26311G>T (SYNE1)	ENSP00000356224.5:p.Asp8771Tyr
ENST00000367256.9:n.10003G>T (SYNE1)
ENST00000367257.8:c.4190G>T (SYNE1)	ENSP00000356226.4:n.4190G>T
ENST00000409694.6:n.9895G>T (SYNE1)
ENST00000423061.5:c.26167G>T (SYNE1)	ENSP00000396024.1:p.Asp8723Tyr
ENST00000427531.6:c.851-2747C>A (ESR1)	ENSP00000394721.2:n.851-2747C>A
ENST00000460912.6:n.2925G>T (SYNE1)
ENST00000478916.5:n.6948G>T (SYNE1)
ENST00000539504.5:c.2776G>T (SYNE1)	ENSP00000441052.1:p.Asp926Tyr
NM_033071.3:c.26167G>T (SYNE1)	NP_149062.1:p.Asp8723Tyr
NM_182961.3:c.26311G>T (SYNE1)	NP_892006.3:p.Asp8771Tyr
XM_006715407.1:c.26458G>T (SYNE1)	XP_006715470.1:p.Asp8820Tyr
XM_006715408.1:c.26446G>T (SYNE1)	XP_006715471.1:p.Asp8816Tyr
XM_006715409.1:c.26437G>T (SYNE1)	XP_006715472.1:p.Asp8813Tyr
XM_006715410.1:c.26416G>T (SYNE1)	XP_006715473.1:p.Asp8806Tyr
XM_006715411.1:c.26407G>T (SYNE1)	XP_006715474.1:p.Asp8803Tyr
XM_006715412.1:c.26401G>T (SYNE1)	XP_006715475.1:p.Asp8801Tyr
XM_006715413.1:c.26389G>T (SYNE1)	XP_006715476.1:p.Asp8797Tyr
XM_006715414.1:c.26386G>T (SYNE1)	XP_006715477.1:p.Asp8796Tyr
XM_006715415.1:c.26347G>T (SYNE1)	XP_006715478.1:p.Asp8783Tyr
XM_006715416.1:c.26332G>T (SYNE1)	XP_006715479.1:p.Asp8778Tyr
XM_006715417.1:c.26317G>T (SYNE1)	XP_006715480.1:p.Asp8773Tyr
XM_006715420.1:c.26305G>T (SYNE1)	XP_006715483.1:p.Asp8769Tyr
XM_006715421.1:c.26302G>T (SYNE1)	XP_006715484.1:p.Asp8768Tyr
XM_006715422.1:c.26299G>T (SYNE1)	XP_006715485.1:p.Asp8767Tyr
XM_006715423.1:c.*122G>T (SYNE1)	XP_006715486.1:n.*122G>T
XM_006715424.1:c.*122G>T (SYNE1)	XP_006715487.1:n.*122G>T
XM_006715425.1:c.*122G>T (SYNE1)	XP_006715488.1:n.*122G>T
XM_011535641.1:c.26455G>T (SYNE1)	XP_011533943.1:p.Asp8819Tyr
XM_011535642.1:c.26443G>T (SYNE1)	XP_011533944.1:p.Asp8815Tyr
XM_011535643.1:c.26293G>T (SYNE1)	XP_011533945.1:p.Asp8765Tyr
XM_011535644.1:c.24733G>T (SYNE1)	XP_011533946.1:p.Asp8245Tyr
XM_011535645.1:c.24226G>T (SYNE1)	XP_011533947.1:p.Asp8076Tyr
XM_011535647.1:c.19693G>T (SYNE1)	XP_011533949.1:p.Asp6565Tyr
NM_001328100.1:c.851-2747C>A (ESR1)	NP_001315029.1:n.851-2747C>A
NM_001347701.1:c.*122G>T (SYNE1)	NP_001334630.1:n.*122G>T
NM_001347702.1:c.2845G>T (SYNE1)	NP_001334631.1:p.Asp949Tyr
XM_006715408.2:c.26446G>T (SYNE1)	XP_006715471.1:p.Asp8816Tyr
XM_006715410.2:c.26416G>T (SYNE1)	XP_006715473.1:p.Asp8806Tyr
XM_006715412.2:c.26401G>T (SYNE1)	XP_006715475.1:p.Asp8801Tyr
XM_006715413.2:c.26389G>T (SYNE1)	XP_006715476.1:p.Asp8797Tyr
XM_006715415.2:c.26347G>T (SYNE1)	XP_006715478.1:p.Asp8783Tyr
XM_006715416.2:c.26332G>T (SYNE1)	XP_006715479.1:p.Asp8778Tyr
XM_006715417.2:c.26317G>T (SYNE1)	XP_006715480.1:p.Asp8773Tyr
XM_006715420.2:c.26305G>T (SYNE1)	XP_006715483.1:p.Asp8769Tyr
XM_006715421.2:c.26302G>T (SYNE1)	XP_006715484.1:p.Asp8768Tyr
XM_006715423.2:c.*122G>T (SYNE1)	XP_006715486.1:n.*122G>T
XM_006715424.2:c.*122G>T (SYNE1)	XP_006715487.1:n.*122G>T
XM_006715425.2:c.*122G>T (SYNE1)	XP_006715488.1:n.*122G>T
XM_011535641.2:c.26455G>T (SYNE1)	XP_011533943.1:p.Asp8819Tyr
XM_011535642.2:c.26443G>T (SYNE1)	XP_011533944.1:p.Asp8815Tyr
XM_011535645.2:c.24226G>T (SYNE1)	XP_011533947.1:p.Asp8076Tyr
XM_017010608.1:c.26458G>T (SYNE1)	XP_016866097.1:p.Asp8820Tyr
XM_017010609.1:c.26458G>T (SYNE1)	XP_016866098.1:p.Asp8820Tyr
XM_017010610.1:c.26437G>T (SYNE1)	XP_016866099.1:p.Asp8813Tyr
XM_017010611.2:c.26431G>T (SYNE1)	XP_016866100.1:p.Asp8811Tyr
XM_017010612.1:c.26380G>T (SYNE1)	XP_016866101.1:p.Asp8794Tyr
XM_017010613.1:c.26344G>T (SYNE1)	XP_016866102.1:p.Asp8782Tyr
XM_017010614.1:c.26302G>T (SYNE1)	XP_016866103.1:p.Asp8768Tyr
XM_017010615.1:c.26191G>T (SYNE1)	XP_016866104.1:p.Asp8731Tyr
XM_017010616.1:c.*122G>T (SYNE1)	XP_016866105.1:n.*122G>T
XM_017010617.1:c.*122G>T (SYNE1)	XP_016866106.1:n.*122G>T
XM_017010618.1:c.*122G>T (SYNE1)	XP_016866107.1:n.*122G>T
XM_017010619.1:c.24733G>T (SYNE1)	XP_016866108.1:p.Asp8245Tyr
NM_182961.4:c.26311G>T (SYNE1) MANE Select	NP_892006.3:p.Asp8771Tyr
NM_001328100.2:c.851-2747C>A (ESR1)	NP_001315029.1:n.851-2747C>A
NM_001347701.2:c.*122G>T (SYNE1)	NP_001334630.1:n.*122G>T
NM_001347702.2:c.2845G>T (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Asp949Tyr
NM_033071.5:c.26167G>T (SYNE1)	NP_149062.2:p.Asp8723Tyr