Canonical Allele Identifier: CA366088949

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443710T>G (hg19) ; chr6:g.152122575T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122575T>G , CM000668.2:g.152122575T>G	GRCh38
NC_000006.11:g.152443710T>G , CM000668.1:g.152443710T>G	GRCh37
NC_000006.10:g.152485403T>G	NCBI36
NG_012855.1:g.519825A>C
NG_008493.2:g.470885T>G
NG_012855.2:g.519825A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2789A>C (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Gln930Pro
ENST00000367255.10:c.26255A>C (SYNE1) MANE Select	ENSP00000356224.5:p.Gln8752Pro
ENST00000423061.6:c.26111A>C (SYNE1)	ENSP00000396024.1:p.Gln8704Pro
ENST00000672154.1:c.1598A>C (SYNE1)
ENST00000672169.1:c.1973A>C (SYNE1)
ENST00000673173.1:c.1840A>C (SYNE1)
ENST00000673451.1:c.2105A>C (SYNE1)	ENSP00000500189.1:n.2105A>C
ENST00000341594.9:c.25040A>C (SYNE1)	ENSP00000341887.6:p.Gln8347Pro
ENST00000347037.9:n.3003A>C (SYNE1)
ENST00000354674.4:c.2789A>C (SYNE1)	ENSP00000346701.4:p.Gln930Pro
ENST00000367251.7:c.5031A>C (SYNE1)	ENSP00000356220.3:n.5031A>C
ENST00000367255.9:c.26255A>C (SYNE1)	ENSP00000356224.5:p.Gln8752Pro
ENST00000367256.9:n.9947A>C (SYNE1)
ENST00000367257.8:c.4134A>C (SYNE1)	ENSP00000356226.4:n.4134A>C
ENST00000409694.6:n.9839A>C (SYNE1)
ENST00000423061.5:c.26111A>C (SYNE1)	ENSP00000396024.1:p.Gln8704Pro
ENST00000427531.6:c.851-2691T>G (ESR1)	ENSP00000394721.2:n.851-2691T>G
ENST00000460912.6:n.2869A>C (SYNE1)
ENST00000478916.5:n.6892A>C (SYNE1)
ENST00000539504.5:c.2720A>C (SYNE1)	ENSP00000441052.1:p.Gln907Pro
NM_033071.3:c.26111A>C (SYNE1)	NP_149062.1:p.Gln8704Pro
NM_182961.3:c.26255A>C (SYNE1)	NP_892006.3:p.Gln8752Pro
XM_006715407.1:c.26402A>C (SYNE1)	XP_006715470.1:p.Gln8801Pro
XM_006715408.1:c.26390A>C (SYNE1)	XP_006715471.1:p.Gln8797Pro
XM_006715409.1:c.26381A>C (SYNE1)	XP_006715472.1:p.Gln8794Pro
XM_006715410.1:c.26360A>C (SYNE1)	XP_006715473.1:p.Gln8787Pro
XM_006715411.1:c.26351A>C (SYNE1)	XP_006715474.1:p.Gln8784Pro
XM_006715412.1:c.26345A>C (SYNE1)	XP_006715475.1:p.Gln8782Pro
XM_006715413.1:c.26333A>C (SYNE1)	XP_006715476.1:p.Gln8778Pro
XM_006715414.1:c.26330A>C (SYNE1)	XP_006715477.1:p.Gln8777Pro
XM_006715415.1:c.26291A>C (SYNE1)	XP_006715478.1:p.Gln8764Pro
XM_006715416.1:c.26276A>C (SYNE1)	XP_006715479.1:p.Gln8759Pro
XM_006715417.1:c.26261A>C (SYNE1)	XP_006715480.1:p.Gln8754Pro
XM_006715420.1:c.26249A>C (SYNE1)	XP_006715483.1:p.Gln8750Pro
XM_006715421.1:c.26246A>C (SYNE1)	XP_006715484.1:p.Gln8749Pro
XM_006715422.1:c.26243A>C (SYNE1)	XP_006715485.1:p.Gln8748Pro
XM_006715423.1:c.*66A>C (SYNE1)	XP_006715486.1:n.*66A>C
XM_006715424.1:c.*66A>C (SYNE1)	XP_006715487.1:n.*66A>C
XM_006715425.1:c.*66A>C (SYNE1)	XP_006715488.1:n.*66A>C
XM_011535641.1:c.26399A>C (SYNE1)	XP_011533943.1:p.Gln8800Pro
XM_011535642.1:c.26387A>C (SYNE1)	XP_011533944.1:p.Gln8796Pro
XM_011535643.1:c.26237A>C (SYNE1)	XP_011533945.1:p.Gln8746Pro
XM_011535644.1:c.24677A>C (SYNE1)	XP_011533946.1:p.Gln8226Pro
XM_011535645.1:c.24170A>C (SYNE1)	XP_011533947.1:p.Gln8057Pro
XM_011535647.1:c.19637A>C (SYNE1)	XP_011533949.1:p.Gln6546Pro
NM_001328100.1:c.851-2691T>G (ESR1)	NP_001315029.1:n.851-2691T>G
NM_001347701.1:c.*66A>C (SYNE1)	NP_001334630.1:n.*66A>C
NM_001347702.1:c.2789A>C (SYNE1)	NP_001334631.1:p.Gln930Pro
XM_006715408.2:c.26390A>C (SYNE1)	XP_006715471.1:p.Gln8797Pro
XM_006715410.2:c.26360A>C (SYNE1)	XP_006715473.1:p.Gln8787Pro
XM_006715412.2:c.26345A>C (SYNE1)	XP_006715475.1:p.Gln8782Pro
XM_006715413.2:c.26333A>C (SYNE1)	XP_006715476.1:p.Gln8778Pro
XM_006715415.2:c.26291A>C (SYNE1)	XP_006715478.1:p.Gln8764Pro
XM_006715416.2:c.26276A>C (SYNE1)	XP_006715479.1:p.Gln8759Pro
XM_006715417.2:c.26261A>C (SYNE1)	XP_006715480.1:p.Gln8754Pro
XM_006715420.2:c.26249A>C (SYNE1)	XP_006715483.1:p.Gln8750Pro
XM_006715421.2:c.26246A>C (SYNE1)	XP_006715484.1:p.Gln8749Pro
XM_006715423.2:c.*66A>C (SYNE1)	XP_006715486.1:n.*66A>C
XM_006715424.2:c.*66A>C (SYNE1)	XP_006715487.1:n.*66A>C
XM_006715425.2:c.*66A>C (SYNE1)	XP_006715488.1:n.*66A>C
XM_011535641.2:c.26399A>C (SYNE1)	XP_011533943.1:p.Gln8800Pro
XM_011535642.2:c.26387A>C (SYNE1)	XP_011533944.1:p.Gln8796Pro
XM_011535645.2:c.24170A>C (SYNE1)	XP_011533947.1:p.Gln8057Pro
XM_017010608.1:c.26402A>C (SYNE1)	XP_016866097.1:p.Gln8801Pro
XM_017010609.1:c.26402A>C (SYNE1)	XP_016866098.1:p.Gln8801Pro
XM_017010610.1:c.26381A>C (SYNE1)	XP_016866099.1:p.Gln8794Pro
XM_017010611.2:c.26375A>C (SYNE1)	XP_016866100.1:p.Gln8792Pro
XM_017010612.1:c.26324A>C (SYNE1)	XP_016866101.1:p.Gln8775Pro
XM_017010613.1:c.26288A>C (SYNE1)	XP_016866102.1:p.Gln8763Pro
XM_017010614.1:c.26246A>C (SYNE1)	XP_016866103.1:p.Gln8749Pro
XM_017010615.1:c.26135A>C (SYNE1)	XP_016866104.1:p.Gln8712Pro
XM_017010616.1:c.*66A>C (SYNE1)	XP_016866105.1:n.*66A>C
XM_017010617.1:c.*66A>C (SYNE1)	XP_016866106.1:n.*66A>C
XM_017010618.1:c.*66A>C (SYNE1)	XP_016866107.1:n.*66A>C
XM_017010619.1:c.24677A>C (SYNE1)	XP_016866108.1:p.Gln8226Pro
NM_182961.4:c.26255A>C (SYNE1) MANE Select	NP_892006.3:p.Gln8752Pro
NM_001328100.2:c.851-2691T>G (ESR1)	NP_001315029.1:n.851-2691T>G
NM_001347701.2:c.*66A>C (SYNE1)	NP_001334630.1:n.*66A>C
NM_001347702.2:c.2789A>C (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Gln930Pro
NM_033071.5:c.26111A>C (SYNE1)	NP_149062.2:p.Gln8704Pro