Canonical Allele Identifier: CA366088800

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443668G>T (hg19) ; chr6:g.152122533G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122533G>T , CM000668.2:g.152122533G>T	GRCh38
NC_000006.11:g.152443668G>T , CM000668.1:g.152443668G>T	GRCh37
NC_000006.10:g.152485361G>T	NCBI36
NG_012855.1:g.519867C>A
NG_008493.2:g.470843G>T
NG_012855.2:g.519867C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2831C>A (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Pro944Gln
ENST00000367255.10:c.26297C>A (SYNE1) MANE Select	ENSP00000356224.5:p.Pro8766Gln
ENST00000423061.6:c.26153C>A (SYNE1)	ENSP00000396024.1:p.Pro8718Gln
ENST00000672154.1:c.1640C>A (SYNE1)
ENST00000672169.1:c.2015C>A (SYNE1)
ENST00000673173.1:c.1882C>A (SYNE1)
ENST00000673451.1:c.2147C>A (SYNE1)	ENSP00000500189.1:n.2147C>A
ENST00000341594.9:c.25082C>A (SYNE1)	ENSP00000341887.6:p.Pro8361Gln
ENST00000347037.9:n.3045C>A (SYNE1)
ENST00000354674.4:c.2831C>A (SYNE1)	ENSP00000346701.4:p.Pro944Gln
ENST00000367251.7:c.5073C>A (SYNE1)	ENSP00000356220.3:n.5073C>A
ENST00000367255.9:c.26297C>A (SYNE1)	ENSP00000356224.5:p.Pro8766Gln
ENST00000367256.9:n.9989C>A (SYNE1)
ENST00000367257.8:c.4176C>A (SYNE1)	ENSP00000356226.4:n.4176C>A
ENST00000409694.6:n.9881C>A (SYNE1)
ENST00000423061.5:c.26153C>A (SYNE1)	ENSP00000396024.1:p.Pro8718Gln
ENST00000427531.6:c.851-2733G>T (ESR1)	ENSP00000394721.2:n.851-2733G>T
ENST00000460912.6:n.2911C>A (SYNE1)
ENST00000478916.5:n.6934C>A (SYNE1)
ENST00000539504.5:c.2762C>A (SYNE1)	ENSP00000441052.1:p.Pro921Gln
NM_033071.3:c.26153C>A (SYNE1)	NP_149062.1:p.Pro8718Gln
NM_182961.3:c.26297C>A (SYNE1)	NP_892006.3:p.Pro8766Gln
XM_006715407.1:c.26444C>A (SYNE1)	XP_006715470.1:p.Pro8815Gln
XM_006715408.1:c.26432C>A (SYNE1)	XP_006715471.1:p.Pro8811Gln
XM_006715409.1:c.26423C>A (SYNE1)	XP_006715472.1:p.Pro8808Gln
XM_006715410.1:c.26402C>A (SYNE1)	XP_006715473.1:p.Pro8801Gln
XM_006715411.1:c.26393C>A (SYNE1)	XP_006715474.1:p.Pro8798Gln
XM_006715412.1:c.26387C>A (SYNE1)	XP_006715475.1:p.Pro8796Gln
XM_006715413.1:c.26375C>A (SYNE1)	XP_006715476.1:p.Pro8792Gln
XM_006715414.1:c.26372C>A (SYNE1)	XP_006715477.1:p.Pro8791Gln
XM_006715415.1:c.26333C>A (SYNE1)	XP_006715478.1:p.Pro8778Gln
XM_006715416.1:c.26318C>A (SYNE1)	XP_006715479.1:p.Pro8773Gln
XM_006715417.1:c.26303C>A (SYNE1)	XP_006715480.1:p.Pro8768Gln
XM_006715420.1:c.26291C>A (SYNE1)	XP_006715483.1:p.Pro8764Gln
XM_006715421.1:c.26288C>A (SYNE1)	XP_006715484.1:p.Pro8763Gln
XM_006715422.1:c.26285C>A (SYNE1)	XP_006715485.1:p.Pro8762Gln
XM_006715423.1:c.*108C>A (SYNE1)	XP_006715486.1:n.*108C>A
XM_006715424.1:c.*108C>A (SYNE1)	XP_006715487.1:n.*108C>A
XM_006715425.1:c.*108C>A (SYNE1)	XP_006715488.1:n.*108C>A
XM_011535641.1:c.26441C>A (SYNE1)	XP_011533943.1:p.Pro8814Gln
XM_011535642.1:c.26429C>A (SYNE1)	XP_011533944.1:p.Pro8810Gln
XM_011535643.1:c.26279C>A (SYNE1)	XP_011533945.1:p.Pro8760Gln
XM_011535644.1:c.24719C>A (SYNE1)	XP_011533946.1:p.Pro8240Gln
XM_011535645.1:c.24212C>A (SYNE1)	XP_011533947.1:p.Pro8071Gln
XM_011535647.1:c.19679C>A (SYNE1)	XP_011533949.1:p.Pro6560Gln
NM_001328100.1:c.851-2733G>T (ESR1)	NP_001315029.1:n.851-2733G>T
NM_001347701.1:c.*108C>A (SYNE1)	NP_001334630.1:n.*108C>A
NM_001347702.1:c.2831C>A (SYNE1)	NP_001334631.1:p.Pro944Gln
XM_006715408.2:c.26432C>A (SYNE1)	XP_006715471.1:p.Pro8811Gln
XM_006715410.2:c.26402C>A (SYNE1)	XP_006715473.1:p.Pro8801Gln
XM_006715412.2:c.26387C>A (SYNE1)	XP_006715475.1:p.Pro8796Gln
XM_006715413.2:c.26375C>A (SYNE1)	XP_006715476.1:p.Pro8792Gln
XM_006715415.2:c.26333C>A (SYNE1)	XP_006715478.1:p.Pro8778Gln
XM_006715416.2:c.26318C>A (SYNE1)	XP_006715479.1:p.Pro8773Gln
XM_006715417.2:c.26303C>A (SYNE1)	XP_006715480.1:p.Pro8768Gln
XM_006715420.2:c.26291C>A (SYNE1)	XP_006715483.1:p.Pro8764Gln
XM_006715421.2:c.26288C>A (SYNE1)	XP_006715484.1:p.Pro8763Gln
XM_006715423.2:c.*108C>A (SYNE1)	XP_006715486.1:n.*108C>A
XM_006715424.2:c.*108C>A (SYNE1)	XP_006715487.1:n.*108C>A
XM_006715425.2:c.*108C>A (SYNE1)	XP_006715488.1:n.*108C>A
XM_011535641.2:c.26441C>A (SYNE1)	XP_011533943.1:p.Pro8814Gln
XM_011535642.2:c.26429C>A (SYNE1)	XP_011533944.1:p.Pro8810Gln
XM_011535645.2:c.24212C>A (SYNE1)	XP_011533947.1:p.Pro8071Gln
XM_017010608.1:c.26444C>A (SYNE1)	XP_016866097.1:p.Pro8815Gln
XM_017010609.1:c.26444C>A (SYNE1)	XP_016866098.1:p.Pro8815Gln
XM_017010610.1:c.26423C>A (SYNE1)	XP_016866099.1:p.Pro8808Gln
XM_017010611.2:c.26417C>A (SYNE1)	XP_016866100.1:p.Pro8806Gln
XM_017010612.1:c.26366C>A (SYNE1)	XP_016866101.1:p.Pro8789Gln
XM_017010613.1:c.26330C>A (SYNE1)	XP_016866102.1:p.Pro8777Gln
XM_017010614.1:c.26288C>A (SYNE1)	XP_016866103.1:p.Pro8763Gln
XM_017010615.1:c.26177C>A (SYNE1)	XP_016866104.1:p.Pro8726Gln
XM_017010616.1:c.*108C>A (SYNE1)	XP_016866105.1:n.*108C>A
XM_017010617.1:c.*108C>A (SYNE1)	XP_016866106.1:n.*108C>A
XM_017010618.1:c.*108C>A (SYNE1)	XP_016866107.1:n.*108C>A
XM_017010619.1:c.24719C>A (SYNE1)	XP_016866108.1:p.Pro8240Gln
NM_182961.4:c.26297C>A (SYNE1) MANE Select	NP_892006.3:p.Pro8766Gln
NM_001328100.2:c.851-2733G>T (ESR1)	NP_001315029.1:n.851-2733G>T
NM_001347701.2:c.*108C>A (SYNE1)	NP_001334630.1:n.*108C>A
NM_001347702.2:c.2831C>A (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Pro944Gln
NM_033071.5:c.26153C>A (SYNE1)	NP_149062.2:p.Pro8718Gln