Canonical Allele Identifier: CA366088791

Gene: SYNE1 ESR1

Linked Data

• dbSNP Id: rs2051645168
• MyVariant Identifiers: chr6:g.152443665A>G (hg19) ; chr6:g.152122530A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122530A>G , CM000668.2:g.152122530A>G	GRCh38
NC_000006.11:g.152443665A>G , CM000668.1:g.152443665A>G	GRCh37
NC_000006.10:g.152485358A>G	NCBI36
NG_012855.1:g.519870T>C
NG_008493.2:g.470840A>G
NG_012855.2:g.519870T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2834T>C (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Met945Thr
ENST00000367255.10:c.26300T>C (SYNE1) MANE Select	ENSP00000356224.5:p.Met8767Thr
ENST00000423061.6:c.26156T>C (SYNE1)	ENSP00000396024.1:p.Met8719Thr
ENST00000672154.1:c.1643T>C (SYNE1)
ENST00000672169.1:c.2018T>C (SYNE1)
ENST00000673173.1:c.1885T>C (SYNE1)
ENST00000673451.1:c.2150T>C (SYNE1)	ENSP00000500189.1:n.2150T>C
ENST00000341594.9:c.25085T>C (SYNE1)	ENSP00000341887.6:p.Met8362Thr
ENST00000347037.9:n.3048T>C (SYNE1)
ENST00000354674.4:c.2834T>C (SYNE1)	ENSP00000346701.4:p.Met945Thr
ENST00000367251.7:c.5076T>C (SYNE1)	ENSP00000356220.3:n.5076T>C
ENST00000367255.9:c.26300T>C (SYNE1)	ENSP00000356224.5:p.Met8767Thr
ENST00000367256.9:n.9992T>C (SYNE1)
ENST00000367257.8:c.4179T>C (SYNE1)	ENSP00000356226.4:n.4179T>C
ENST00000409694.6:n.9884T>C (SYNE1)
ENST00000423061.5:c.26156T>C (SYNE1)	ENSP00000396024.1:p.Met8719Thr
ENST00000427531.6:c.851-2736A>G (ESR1)	ENSP00000394721.2:n.851-2736A>G
ENST00000460912.6:n.2914T>C (SYNE1)
ENST00000478916.5:n.6937T>C (SYNE1)
ENST00000539504.5:c.2765T>C (SYNE1)	ENSP00000441052.1:p.Met922Thr
NM_033071.3:c.26156T>C (SYNE1)	NP_149062.1:p.Met8719Thr
NM_182961.3:c.26300T>C (SYNE1)	NP_892006.3:p.Met8767Thr
XM_006715407.1:c.26447T>C (SYNE1)	XP_006715470.1:p.Met8816Thr
XM_006715408.1:c.26435T>C (SYNE1)	XP_006715471.1:p.Met8812Thr
XM_006715409.1:c.26426T>C (SYNE1)	XP_006715472.1:p.Met8809Thr
XM_006715410.1:c.26405T>C (SYNE1)	XP_006715473.1:p.Met8802Thr
XM_006715411.1:c.26396T>C (SYNE1)	XP_006715474.1:p.Met8799Thr
XM_006715412.1:c.26390T>C (SYNE1)	XP_006715475.1:p.Met8797Thr
XM_006715413.1:c.26378T>C (SYNE1)	XP_006715476.1:p.Met8793Thr
XM_006715414.1:c.26375T>C (SYNE1)	XP_006715477.1:p.Met8792Thr
XM_006715415.1:c.26336T>C (SYNE1)	XP_006715478.1:p.Met8779Thr
XM_006715416.1:c.26321T>C (SYNE1)	XP_006715479.1:p.Met8774Thr
XM_006715417.1:c.26306T>C (SYNE1)	XP_006715480.1:p.Met8769Thr
XM_006715420.1:c.26294T>C (SYNE1)	XP_006715483.1:p.Met8765Thr
XM_006715421.1:c.26291T>C (SYNE1)	XP_006715484.1:p.Met8764Thr
XM_006715422.1:c.26288T>C (SYNE1)	XP_006715485.1:p.Met8763Thr
XM_006715423.1:c.*111T>C (SYNE1)	XP_006715486.1:n.*111T>C
XM_006715424.1:c.*111T>C (SYNE1)	XP_006715487.1:n.*111T>C
XM_006715425.1:c.*111T>C (SYNE1)	XP_006715488.1:n.*111T>C
XM_011535641.1:c.26444T>C (SYNE1)	XP_011533943.1:p.Met8815Thr
XM_011535642.1:c.26432T>C (SYNE1)	XP_011533944.1:p.Met8811Thr
XM_011535643.1:c.26282T>C (SYNE1)	XP_011533945.1:p.Met8761Thr
XM_011535644.1:c.24722T>C (SYNE1)	XP_011533946.1:p.Met8241Thr
XM_011535645.1:c.24215T>C (SYNE1)	XP_011533947.1:p.Met8072Thr
XM_011535647.1:c.19682T>C (SYNE1)	XP_011533949.1:p.Met6561Thr
NM_001328100.1:c.851-2736A>G (ESR1)	NP_001315029.1:n.851-2736A>G
NM_001347701.1:c.*111T>C (SYNE1)	NP_001334630.1:n.*111T>C
NM_001347702.1:c.2834T>C (SYNE1)	NP_001334631.1:p.Met945Thr
XM_006715408.2:c.26435T>C (SYNE1)	XP_006715471.1:p.Met8812Thr
XM_006715410.2:c.26405T>C (SYNE1)	XP_006715473.1:p.Met8802Thr
XM_006715412.2:c.26390T>C (SYNE1)	XP_006715475.1:p.Met8797Thr
XM_006715413.2:c.26378T>C (SYNE1)	XP_006715476.1:p.Met8793Thr
XM_006715415.2:c.26336T>C (SYNE1)	XP_006715478.1:p.Met8779Thr
XM_006715416.2:c.26321T>C (SYNE1)	XP_006715479.1:p.Met8774Thr
XM_006715417.2:c.26306T>C (SYNE1)	XP_006715480.1:p.Met8769Thr
XM_006715420.2:c.26294T>C (SYNE1)	XP_006715483.1:p.Met8765Thr
XM_006715421.2:c.26291T>C (SYNE1)	XP_006715484.1:p.Met8764Thr
XM_006715423.2:c.*111T>C (SYNE1)	XP_006715486.1:n.*111T>C
XM_006715424.2:c.*111T>C (SYNE1)	XP_006715487.1:n.*111T>C
XM_006715425.2:c.*111T>C (SYNE1)	XP_006715488.1:n.*111T>C
XM_011535641.2:c.26444T>C (SYNE1)	XP_011533943.1:p.Met8815Thr
XM_011535642.2:c.26432T>C (SYNE1)	XP_011533944.1:p.Met8811Thr
XM_011535645.2:c.24215T>C (SYNE1)	XP_011533947.1:p.Met8072Thr
XM_017010608.1:c.26447T>C (SYNE1)	XP_016866097.1:p.Met8816Thr
XM_017010609.1:c.26447T>C (SYNE1)	XP_016866098.1:p.Met8816Thr
XM_017010610.1:c.26426T>C (SYNE1)	XP_016866099.1:p.Met8809Thr
XM_017010611.2:c.26420T>C (SYNE1)	XP_016866100.1:p.Met8807Thr
XM_017010612.1:c.26369T>C (SYNE1)	XP_016866101.1:p.Met8790Thr
XM_017010613.1:c.26333T>C (SYNE1)	XP_016866102.1:p.Met8778Thr
XM_017010614.1:c.26291T>C (SYNE1)	XP_016866103.1:p.Met8764Thr
XM_017010615.1:c.26180T>C (SYNE1)	XP_016866104.1:p.Met8727Thr
XM_017010616.1:c.*111T>C (SYNE1)	XP_016866105.1:n.*111T>C
XM_017010617.1:c.*111T>C (SYNE1)	XP_016866106.1:n.*111T>C
XM_017010618.1:c.*111T>C (SYNE1)	XP_016866107.1:n.*111T>C
XM_017010619.1:c.24722T>C (SYNE1)	XP_016866108.1:p.Met8241Thr
NM_182961.4:c.26300T>C (SYNE1) MANE Select	NP_892006.3:p.Met8767Thr
NM_001328100.2:c.851-2736A>G (ESR1)	NP_001315029.1:n.851-2736A>G
NM_001347701.2:c.*111T>C (SYNE1)	NP_001334630.1:n.*111T>C
NM_001347702.2:c.2834T>C (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Met945Thr
NM_033071.5:c.26156T>C (SYNE1)	NP_149062.2:p.Met8719Thr