Canonical Allele Identifier: CA366088941

Gene: SYNE1 ESR1

Linked Data

• COSMIC: COSM1664421 ; COSM1664422 ; COSM1664423
• MyVariant Identifiers: chr6:g.152443709C>A (hg19) ; chr6:g.152122574C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122574C>A , CM000668.2:g.152122574C>A	GRCh38
NC_000006.11:g.152443709C>A , CM000668.1:g.152443709C>A	GRCh37
NC_000006.10:g.152485402C>A	NCBI36
NG_012855.1:g.519826G>T
NG_008493.2:g.470884C>A
NG_012855.2:g.519826G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2790G>T (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Gln930His
ENST00000367255.10:c.26256G>T (SYNE1) MANE Select	ENSP00000356224.5:p.Gln8752His
ENST00000423061.6:c.26112G>T (SYNE1)	ENSP00000396024.1:p.Gln8704His
ENST00000672154.1:c.1599G>T (SYNE1)
ENST00000672169.1:c.1974G>T (SYNE1)
ENST00000673173.1:c.1841G>T (SYNE1)
ENST00000673451.1:c.2106G>T (SYNE1)	ENSP00000500189.1:n.2106G>T
ENST00000341594.9:c.25041G>T (SYNE1)	ENSP00000341887.6:p.Gln8347His
ENST00000347037.9:n.3004G>T (SYNE1)
ENST00000354674.4:c.2790G>T (SYNE1)	ENSP00000346701.4:p.Gln930His
ENST00000367251.7:c.5032G>T (SYNE1)	ENSP00000356220.3:n.5032G>T
ENST00000367255.9:c.26256G>T (SYNE1)	ENSP00000356224.5:p.Gln8752His
ENST00000367256.9:n.9948G>T (SYNE1)
ENST00000367257.8:c.4135G>T (SYNE1)	ENSP00000356226.4:n.4135G>T
ENST00000409694.6:n.9840G>T (SYNE1)
ENST00000423061.5:c.26112G>T (SYNE1)	ENSP00000396024.1:p.Gln8704His
ENST00000427531.6:c.851-2692C>A (ESR1)	ENSP00000394721.2:n.851-2692C>A
ENST00000460912.6:n.2870G>T (SYNE1)
ENST00000478916.5:n.6893G>T (SYNE1)
ENST00000539504.5:c.2721G>T (SYNE1)	ENSP00000441052.1:p.Gln907His
NM_033071.3:c.26112G>T (SYNE1)	NP_149062.1:p.Gln8704His
NM_182961.3:c.26256G>T (SYNE1)	NP_892006.3:p.Gln8752His
XM_006715407.1:c.26403G>T (SYNE1)	XP_006715470.1:p.Gln8801His
XM_006715408.1:c.26391G>T (SYNE1)	XP_006715471.1:p.Gln8797His
XM_006715409.1:c.26382G>T (SYNE1)	XP_006715472.1:p.Gln8794His
XM_006715410.1:c.26361G>T (SYNE1)	XP_006715473.1:p.Gln8787His
XM_006715411.1:c.26352G>T (SYNE1)	XP_006715474.1:p.Gln8784His
XM_006715412.1:c.26346G>T (SYNE1)	XP_006715475.1:p.Gln8782His
XM_006715413.1:c.26334G>T (SYNE1)	XP_006715476.1:p.Gln8778His
XM_006715414.1:c.26331G>T (SYNE1)	XP_006715477.1:p.Gln8777His
XM_006715415.1:c.26292G>T (SYNE1)	XP_006715478.1:p.Gln8764His
XM_006715416.1:c.26277G>T (SYNE1)	XP_006715479.1:p.Gln8759His
XM_006715417.1:c.26262G>T (SYNE1)	XP_006715480.1:p.Gln8754His
XM_006715420.1:c.26250G>T (SYNE1)	XP_006715483.1:p.Gln8750His
XM_006715421.1:c.26247G>T (SYNE1)	XP_006715484.1:p.Gln8749His
XM_006715422.1:c.26244G>T (SYNE1)	XP_006715485.1:p.Gln8748His
XM_006715423.1:c.*67G>T (SYNE1)	XP_006715486.1:n.*67G>T
XM_006715424.1:c.*67G>T (SYNE1)	XP_006715487.1:n.*67G>T
XM_006715425.1:c.*67G>T (SYNE1)	XP_006715488.1:n.*67G>T
XM_011535641.1:c.26400G>T (SYNE1)	XP_011533943.1:p.Gln8800His
XM_011535642.1:c.26388G>T (SYNE1)	XP_011533944.1:p.Gln8796His
XM_011535643.1:c.26238G>T (SYNE1)	XP_011533945.1:p.Gln8746His
XM_011535644.1:c.24678G>T (SYNE1)	XP_011533946.1:p.Gln8226His
XM_011535645.1:c.24171G>T (SYNE1)	XP_011533947.1:p.Gln8057His
XM_011535647.1:c.19638G>T (SYNE1)	XP_011533949.1:p.Gln6546His
NM_001328100.1:c.851-2692C>A (ESR1)	NP_001315029.1:n.851-2692C>A
NM_001347701.1:c.*67G>T (SYNE1)	NP_001334630.1:n.*67G>T
NM_001347702.1:c.2790G>T (SYNE1)	NP_001334631.1:p.Gln930His
XM_006715408.2:c.26391G>T (SYNE1)	XP_006715471.1:p.Gln8797His
XM_006715410.2:c.26361G>T (SYNE1)	XP_006715473.1:p.Gln8787His
XM_006715412.2:c.26346G>T (SYNE1)	XP_006715475.1:p.Gln8782His
XM_006715413.2:c.26334G>T (SYNE1)	XP_006715476.1:p.Gln8778His
XM_006715415.2:c.26292G>T (SYNE1)	XP_006715478.1:p.Gln8764His
XM_006715416.2:c.26277G>T (SYNE1)	XP_006715479.1:p.Gln8759His
XM_006715417.2:c.26262G>T (SYNE1)	XP_006715480.1:p.Gln8754His
XM_006715420.2:c.26250G>T (SYNE1)	XP_006715483.1:p.Gln8750His
XM_006715421.2:c.26247G>T (SYNE1)	XP_006715484.1:p.Gln8749His
XM_006715423.2:c.*67G>T (SYNE1)	XP_006715486.1:n.*67G>T
XM_006715424.2:c.*67G>T (SYNE1)	XP_006715487.1:n.*67G>T
XM_006715425.2:c.*67G>T (SYNE1)	XP_006715488.1:n.*67G>T
XM_011535641.2:c.26400G>T (SYNE1)	XP_011533943.1:p.Gln8800His
XM_011535642.2:c.26388G>T (SYNE1)	XP_011533944.1:p.Gln8796His
XM_011535645.2:c.24171G>T (SYNE1)	XP_011533947.1:p.Gln8057His
XM_017010608.1:c.26403G>T (SYNE1)	XP_016866097.1:p.Gln8801His
XM_017010609.1:c.26403G>T (SYNE1)	XP_016866098.1:p.Gln8801His
XM_017010610.1:c.26382G>T (SYNE1)	XP_016866099.1:p.Gln8794His
XM_017010611.2:c.26376G>T (SYNE1)	XP_016866100.1:p.Gln8792His
XM_017010612.1:c.26325G>T (SYNE1)	XP_016866101.1:p.Gln8775His
XM_017010613.1:c.26289G>T (SYNE1)	XP_016866102.1:p.Gln8763His
XM_017010614.1:c.26247G>T (SYNE1)	XP_016866103.1:p.Gln8749His
XM_017010615.1:c.26136G>T (SYNE1)	XP_016866104.1:p.Gln8712His
XM_017010616.1:c.*67G>T (SYNE1)	XP_016866105.1:n.*67G>T
XM_017010617.1:c.*67G>T (SYNE1)	XP_016866106.1:n.*67G>T
XM_017010618.1:c.*67G>T (SYNE1)	XP_016866107.1:n.*67G>T
XM_017010619.1:c.24678G>T (SYNE1)	XP_016866108.1:p.Gln8226His
NM_182961.4:c.26256G>T (SYNE1) MANE Select	NP_892006.3:p.Gln8752His
NM_001328100.2:c.851-2692C>A (ESR1)	NP_001315029.1:n.851-2692C>A
NM_001347701.2:c.*67G>T (SYNE1)	NP_001334630.1:n.*67G>T
NM_001347702.2:c.2790G>T (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Gln930His
NM_033071.5:c.26112G>T (SYNE1)	NP_149062.2:p.Gln8704His