Canonical Allele Identifier: CA366088769

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443662G>A (hg19) ; chr6:g.152122527G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122527G>A , CM000668.2:g.152122527G>A	GRCh38
NC_000006.11:g.152443662G>A , CM000668.1:g.152443662G>A	GRCh37
NC_000006.10:g.152485355G>A	NCBI36
NG_012855.1:g.519873C>T
NG_008493.2:g.470837G>A
NG_012855.2:g.519873C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000354674.5:c.2837C>T (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Ser946Leu
ENST00000367255.10:c.26303C>T (SYNE1) MANE Select	ENSP00000356224.5:p.Ser8768Leu
ENST00000423061.6:c.26159C>T (SYNE1)	ENSP00000396024.1:p.Ser8720Leu
ENST00000672154.1:c.1646C>T (SYNE1)
ENST00000672169.1:c.2021C>T (SYNE1)
ENST00000673173.1:c.1888C>T (SYNE1)
ENST00000673451.1:c.2153C>T (SYNE1)	ENSP00000500189.1:n.2153C>T
ENST00000341594.9:c.25088C>T (SYNE1)	ENSP00000341887.6:p.Ser8363Leu
ENST00000347037.9:n.3051C>T (SYNE1)
ENST00000354674.4:c.2837C>T (SYNE1)	ENSP00000346701.4:p.Ser946Leu
ENST00000367251.7:c.5079C>T (SYNE1)	ENSP00000356220.3:n.5079C>T
ENST00000367255.9:c.26303C>T (SYNE1)	ENSP00000356224.5:p.Ser8768Leu
ENST00000367256.9:n.9995C>T (SYNE1)
ENST00000367257.8:c.4182C>T (SYNE1)	ENSP00000356226.4:n.4182C>T
ENST00000409694.6:n.9887C>T (SYNE1)
ENST00000423061.5:c.26159C>T (SYNE1)	ENSP00000396024.1:p.Ser8720Leu
ENST00000427531.6:c.851-2739G>A (ESR1)	ENSP00000394721.2:n.851-2739G>A
ENST00000460912.6:n.2917C>T (SYNE1)
ENST00000478916.5:n.6940C>T (SYNE1)
ENST00000539504.5:c.2768C>T (SYNE1)	ENSP00000441052.1:p.Ser923Leu
NM_033071.3:c.26159C>T (SYNE1)	NP_149062.1:p.Ser8720Leu
NM_182961.3:c.26303C>T (SYNE1)	NP_892006.3:p.Ser8768Leu
XM_006715407.1:c.26450C>T (SYNE1)	XP_006715470.1:p.Ser8817Leu
XM_006715408.1:c.26438C>T (SYNE1)	XP_006715471.1:p.Ser8813Leu
XM_006715409.1:c.26429C>T (SYNE1)	XP_006715472.1:p.Ser8810Leu
XM_006715410.1:c.26408C>T (SYNE1)	XP_006715473.1:p.Ser8803Leu
XM_006715411.1:c.26399C>T (SYNE1)	XP_006715474.1:p.Ser8800Leu
XM_006715412.1:c.26393C>T (SYNE1)	XP_006715475.1:p.Ser8798Leu
XM_006715413.1:c.26381C>T (SYNE1)	XP_006715476.1:p.Ser8794Leu
XM_006715414.1:c.26378C>T (SYNE1)	XP_006715477.1:p.Ser8793Leu
XM_006715415.1:c.26339C>T (SYNE1)	XP_006715478.1:p.Ser8780Leu
XM_006715416.1:c.26324C>T (SYNE1)	XP_006715479.1:p.Ser8775Leu
XM_006715417.1:c.26309C>T (SYNE1)	XP_006715480.1:p.Ser8770Leu
XM_006715420.1:c.26297C>T (SYNE1)	XP_006715483.1:p.Ser8766Leu
XM_006715421.1:c.26294C>T (SYNE1)	XP_006715484.1:p.Ser8765Leu
XM_006715422.1:c.26291C>T (SYNE1)	XP_006715485.1:p.Ser8764Leu
XM_006715423.1:c.*114C>T (SYNE1)	XP_006715486.1:n.*114C>T
XM_006715424.1:c.*114C>T (SYNE1)	XP_006715487.1:n.*114C>T
XM_006715425.1:c.*114C>T (SYNE1)	XP_006715488.1:n.*114C>T
XM_011535641.1:c.26447C>T (SYNE1)	XP_011533943.1:p.Ser8816Leu
XM_011535642.1:c.26435C>T (SYNE1)	XP_011533944.1:p.Ser8812Leu
XM_011535643.1:c.26285C>T (SYNE1)	XP_011533945.1:p.Ser8762Leu
XM_011535644.1:c.24725C>T (SYNE1)	XP_011533946.1:p.Ser8242Leu
XM_011535645.1:c.24218C>T (SYNE1)	XP_011533947.1:p.Ser8073Leu
XM_011535647.1:c.19685C>T (SYNE1)	XP_011533949.1:p.Ser6562Leu
NM_001328100.1:c.851-2739G>A (ESR1)	NP_001315029.1:n.851-2739G>A
NM_001347701.1:c.*114C>T (SYNE1)	NP_001334630.1:n.*114C>T
NM_001347702.1:c.2837C>T (SYNE1)	NP_001334631.1:p.Ser946Leu
XM_006715408.2:c.26438C>T (SYNE1)	XP_006715471.1:p.Ser8813Leu
XM_006715410.2:c.26408C>T (SYNE1)	XP_006715473.1:p.Ser8803Leu
XM_006715412.2:c.26393C>T (SYNE1)	XP_006715475.1:p.Ser8798Leu
XM_006715413.2:c.26381C>T (SYNE1)	XP_006715476.1:p.Ser8794Leu
XM_006715415.2:c.26339C>T (SYNE1)	XP_006715478.1:p.Ser8780Leu
XM_006715416.2:c.26324C>T (SYNE1)	XP_006715479.1:p.Ser8775Leu
XM_006715417.2:c.26309C>T (SYNE1)	XP_006715480.1:p.Ser8770Leu
XM_006715420.2:c.26297C>T (SYNE1)	XP_006715483.1:p.Ser8766Leu
XM_006715421.2:c.26294C>T (SYNE1)	XP_006715484.1:p.Ser8765Leu
XM_006715423.2:c.*114C>T (SYNE1)	XP_006715486.1:n.*114C>T
XM_006715424.2:c.*114C>T (SYNE1)	XP_006715487.1:n.*114C>T
XM_006715425.2:c.*114C>T (SYNE1)	XP_006715488.1:n.*114C>T
XM_011535641.2:c.26447C>T (SYNE1)	XP_011533943.1:p.Ser8816Leu
XM_011535642.2:c.26435C>T (SYNE1)	XP_011533944.1:p.Ser8812Leu
XM_011535645.2:c.24218C>T (SYNE1)	XP_011533947.1:p.Ser8073Leu
XM_017010608.1:c.26450C>T (SYNE1)	XP_016866097.1:p.Ser8817Leu
XM_017010609.1:c.26450C>T (SYNE1)	XP_016866098.1:p.Ser8817Leu
XM_017010610.1:c.26429C>T (SYNE1)	XP_016866099.1:p.Ser8810Leu
XM_017010611.2:c.26423C>T (SYNE1)	XP_016866100.1:p.Ser8808Leu
XM_017010612.1:c.26372C>T (SYNE1)	XP_016866101.1:p.Ser8791Leu
XM_017010613.1:c.26336C>T (SYNE1)	XP_016866102.1:p.Ser8779Leu
XM_017010614.1:c.26294C>T (SYNE1)	XP_016866103.1:p.Ser8765Leu
XM_017010615.1:c.26183C>T (SYNE1)	XP_016866104.1:p.Ser8728Leu
XM_017010616.1:c.*114C>T (SYNE1)	XP_016866105.1:n.*114C>T
XM_017010617.1:c.*114C>T (SYNE1)	XP_016866106.1:n.*114C>T
XM_017010618.1:c.*114C>T (SYNE1)	XP_016866107.1:n.*114C>T
XM_017010619.1:c.24725C>T (SYNE1)	XP_016866108.1:p.Ser8242Leu
NM_182961.4:c.26303C>T (SYNE1) MANE Select	NP_892006.3:p.Ser8768Leu
NM_001328100.2:c.851-2739G>A (ESR1)	NP_001315029.1:n.851-2739G>A
NM_001347701.2:c.*114C>T (SYNE1)	NP_001334630.1:n.*114C>T
NM_001347702.2:c.2837C>T (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Ser946Leu
NM_033071.5:c.26159C>T (SYNE1)	NP_149062.2:p.Ser8720Leu