Canonical Allele Identifier: CA366088422

Gene: SYNE1 ESR1

Linked Data

• gnomAD v4: 6-152122444-G-T
• MyVariant Identifiers: chr6:g.152443579G>T (hg19) ; chr6:g.152122444G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122444G>T , CM000668.2:g.152122444G>T	GRCh38
NC_000006.11:g.152443579G>T , CM000668.1:g.152443579G>T	GRCh37
NC_000006.10:g.152485272G>T	NCBI36
NG_012855.1:g.519956C>A
NG_008493.2:g.470754G>T
NG_012855.2:g.519956C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2920C>A (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Pro974Thr
ENST00000367255.10:c.26386C>A (SYNE1) MANE Select	ENSP00000356224.5:p.Pro8796Thr
ENST00000423061.6:c.26242C>A (SYNE1)	ENSP00000396024.1:p.Pro8748Thr
ENST00000672154.1:c.1729C>A (SYNE1)
ENST00000672169.1:c.2104C>A (SYNE1)
ENST00000673173.1:c.1971C>A (SYNE1)
ENST00000673451.1:c.2236C>A (SYNE1)	ENSP00000500189.1:n.2236C>A
ENST00000341594.9:c.25171C>A (SYNE1)	ENSP00000341887.6:p.Pro8391Thr
ENST00000347037.9:n.3134C>A (SYNE1)
ENST00000354674.4:c.2920C>A (SYNE1)	ENSP00000346701.4:p.Pro974Thr
ENST00000367251.7:c.5162C>A (SYNE1)	ENSP00000356220.3:n.5162C>A
ENST00000367255.9:c.26386C>A (SYNE1)	ENSP00000356224.5:p.Pro8796Thr
ENST00000367256.9:n.10078C>A (SYNE1)
ENST00000367257.8:c.4265C>A (SYNE1)	ENSP00000356226.4:n.4265C>A
ENST00000409694.6:n.9970C>A (SYNE1)
ENST00000423061.5:c.26242C>A (SYNE1)	ENSP00000396024.1:p.Pro8748Thr
ENST00000427531.6:c.851-2822G>T (ESR1)	ENSP00000394721.2:n.851-2822G>T
ENST00000460912.6:n.3000C>A (SYNE1)
ENST00000478916.5:n.7023C>A (SYNE1)
ENST00000539504.5:c.2851C>A (SYNE1)	ENSP00000441052.1:p.Pro951Thr
NM_033071.3:c.26242C>A (SYNE1)	NP_149062.1:p.Pro8748Thr
NM_182961.3:c.26386C>A (SYNE1)	NP_892006.3:p.Pro8796Thr
XM_006715407.1:c.26533C>A (SYNE1)	XP_006715470.1:p.Pro8845Thr
XM_006715408.1:c.26521C>A (SYNE1)	XP_006715471.1:p.Pro8841Thr
XM_006715409.1:c.26512C>A (SYNE1)	XP_006715472.1:p.Pro8838Thr
XM_006715410.1:c.26491C>A (SYNE1)	XP_006715473.1:p.Pro8831Thr
XM_006715411.1:c.26482C>A (SYNE1)	XP_006715474.1:p.Pro8828Thr
XM_006715412.1:c.26476C>A (SYNE1)	XP_006715475.1:p.Pro8826Thr
XM_006715413.1:c.26464C>A (SYNE1)	XP_006715476.1:p.Pro8822Thr
XM_006715414.1:c.26461C>A (SYNE1)	XP_006715477.1:p.Pro8821Thr
XM_006715415.1:c.26422C>A (SYNE1)	XP_006715478.1:p.Pro8808Thr
XM_006715416.1:c.26407C>A (SYNE1)	XP_006715479.1:p.Pro8803Thr
XM_006715417.1:c.26392C>A (SYNE1)	XP_006715480.1:p.Pro8798Thr
XM_006715420.1:c.26380C>A (SYNE1)	XP_006715483.1:p.Pro8794Thr
XM_006715421.1:c.26377C>A (SYNE1)	XP_006715484.1:p.Pro8793Thr
XM_006715422.1:c.26374C>A (SYNE1)	XP_006715485.1:p.Pro8792Thr
XM_006715423.1:c.*197C>A (SYNE1)	XP_006715486.1:n.*197C>A
XM_006715424.1:c.*197C>A (SYNE1)	XP_006715487.1:n.*197C>A
XM_006715425.1:c.*197C>A (SYNE1)	XP_006715488.1:n.*197C>A
XM_011535641.1:c.26530C>A (SYNE1)	XP_011533943.1:p.Pro8844Thr
XM_011535642.1:c.26518C>A (SYNE1)	XP_011533944.1:p.Pro8840Thr
XM_011535643.1:c.26368C>A (SYNE1)	XP_011533945.1:p.Pro8790Thr
XM_011535644.1:c.24808C>A (SYNE1)	XP_011533946.1:p.Pro8270Thr
XM_011535645.1:c.24301C>A (SYNE1)	XP_011533947.1:p.Pro8101Thr
XM_011535647.1:c.19768C>A (SYNE1)	XP_011533949.1:p.Pro6590Thr
NM_001328100.1:c.851-2822G>T (ESR1)	NP_001315029.1:n.851-2822G>T
NM_001347701.1:c.*197C>A (SYNE1)	NP_001334630.1:n.*197C>A
NM_001347702.1:c.2920C>A (SYNE1)	NP_001334631.1:p.Pro974Thr
XM_006715408.2:c.26521C>A (SYNE1)	XP_006715471.1:p.Pro8841Thr
XM_006715410.2:c.26491C>A (SYNE1)	XP_006715473.1:p.Pro8831Thr
XM_006715412.2:c.26476C>A (SYNE1)	XP_006715475.1:p.Pro8826Thr
XM_006715413.2:c.26464C>A (SYNE1)	XP_006715476.1:p.Pro8822Thr
XM_006715415.2:c.26422C>A (SYNE1)	XP_006715478.1:p.Pro8808Thr
XM_006715416.2:c.26407C>A (SYNE1)	XP_006715479.1:p.Pro8803Thr
XM_006715417.2:c.26392C>A (SYNE1)	XP_006715480.1:p.Pro8798Thr
XM_006715420.2:c.26380C>A (SYNE1)	XP_006715483.1:p.Pro8794Thr
XM_006715421.2:c.26377C>A (SYNE1)	XP_006715484.1:p.Pro8793Thr
XM_006715423.2:c.*197C>A (SYNE1)	XP_006715486.1:n.*197C>A
XM_006715424.2:c.*197C>A (SYNE1)	XP_006715487.1:n.*197C>A
XM_006715425.2:c.*197C>A (SYNE1)	XP_006715488.1:n.*197C>A
XM_011535641.2:c.26530C>A (SYNE1)	XP_011533943.1:p.Pro8844Thr
XM_011535642.2:c.26518C>A (SYNE1)	XP_011533944.1:p.Pro8840Thr
XM_011535645.2:c.24301C>A (SYNE1)	XP_011533947.1:p.Pro8101Thr
XM_017010608.1:c.26533C>A (SYNE1)	XP_016866097.1:p.Pro8845Thr
XM_017010609.1:c.26533C>A (SYNE1)	XP_016866098.1:p.Pro8845Thr
XM_017010610.1:c.26512C>A (SYNE1)	XP_016866099.1:p.Pro8838Thr
XM_017010611.2:c.26506C>A (SYNE1)	XP_016866100.1:p.Pro8836Thr
XM_017010612.1:c.26455C>A (SYNE1)	XP_016866101.1:p.Pro8819Thr
XM_017010613.1:c.26419C>A (SYNE1)	XP_016866102.1:p.Pro8807Thr
XM_017010614.1:c.26377C>A (SYNE1)	XP_016866103.1:p.Pro8793Thr
XM_017010615.1:c.26266C>A (SYNE1)	XP_016866104.1:p.Pro8756Thr
XM_017010616.1:c.*197C>A (SYNE1)	XP_016866105.1:n.*197C>A
XM_017010617.1:c.*197C>A (SYNE1)	XP_016866106.1:n.*197C>A
XM_017010618.1:c.*197C>A (SYNE1)	XP_016866107.1:n.*197C>A
XM_017010619.1:c.24808C>A (SYNE1)	XP_016866108.1:p.Pro8270Thr
NM_182961.4:c.26386C>A (SYNE1) MANE Select	NP_892006.3:p.Pro8796Thr
NM_001328100.2:c.851-2822G>T (ESR1)	NP_001315029.1:n.851-2822G>T
NM_001347701.2:c.*197C>A (SYNE1)	NP_001334630.1:n.*197C>A
NM_001347702.2:c.2920C>A (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Pro974Thr
NM_033071.5:c.26242C>A (SYNE1)	NP_149062.2:p.Pro8748Thr