Canonical Allele Identifier: CA366088715

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443651A>T (hg19) ; chr6:g.152122516A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122516A>T , CM000668.2:g.152122516A>T	GRCh38
NC_000006.11:g.152443651A>T , CM000668.1:g.152443651A>T	GRCh37
NC_000006.10:g.152485344A>T	NCBI36
NG_012855.1:g.519884T>A
NG_008493.2:g.470826A>T
NG_012855.2:g.519884T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2848T>A (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Tyr950Asn
ENST00000367255.10:c.26314T>A (SYNE1) MANE Select	ENSP00000356224.5:p.Tyr8772Asn
ENST00000423061.6:c.26170T>A (SYNE1)	ENSP00000396024.1:p.Tyr8724Asn
ENST00000672154.1:c.1657T>A (SYNE1)
ENST00000672169.1:c.2032T>A (SYNE1)
ENST00000673173.1:c.1899T>A (SYNE1)
ENST00000673451.1:c.2164T>A (SYNE1)	ENSP00000500189.1:n.2164T>A
ENST00000341594.9:c.25099T>A (SYNE1)	ENSP00000341887.6:p.Tyr8367Asn
ENST00000347037.9:n.3062T>A (SYNE1)
ENST00000354674.4:c.2848T>A (SYNE1)	ENSP00000346701.4:p.Tyr950Asn
ENST00000367251.7:c.5090T>A (SYNE1)	ENSP00000356220.3:n.5090T>A
ENST00000367255.9:c.26314T>A (SYNE1)	ENSP00000356224.5:p.Tyr8772Asn
ENST00000367256.9:n.10006T>A (SYNE1)
ENST00000367257.8:c.4193T>A (SYNE1)	ENSP00000356226.4:n.4193T>A
ENST00000409694.6:n.9898T>A (SYNE1)
ENST00000423061.5:c.26170T>A (SYNE1)	ENSP00000396024.1:p.Tyr8724Asn
ENST00000427531.6:c.851-2750A>T (ESR1)	ENSP00000394721.2:n.851-2750A>T
ENST00000460912.6:n.2928T>A (SYNE1)
ENST00000478916.5:n.6951T>A (SYNE1)
ENST00000539504.5:c.2779T>A (SYNE1)	ENSP00000441052.1:p.Tyr927Asn
NM_033071.3:c.26170T>A (SYNE1)	NP_149062.1:p.Tyr8724Asn
NM_182961.3:c.26314T>A (SYNE1)	NP_892006.3:p.Tyr8772Asn
XM_006715407.1:c.26461T>A (SYNE1)	XP_006715470.1:p.Tyr8821Asn
XM_006715408.1:c.26449T>A (SYNE1)	XP_006715471.1:p.Tyr8817Asn
XM_006715409.1:c.26440T>A (SYNE1)	XP_006715472.1:p.Tyr8814Asn
XM_006715410.1:c.26419T>A (SYNE1)	XP_006715473.1:p.Tyr8807Asn
XM_006715411.1:c.26410T>A (SYNE1)	XP_006715474.1:p.Tyr8804Asn
XM_006715412.1:c.26404T>A (SYNE1)	XP_006715475.1:p.Tyr8802Asn
XM_006715413.1:c.26392T>A (SYNE1)	XP_006715476.1:p.Tyr8798Asn
XM_006715414.1:c.26389T>A (SYNE1)	XP_006715477.1:p.Tyr8797Asn
XM_006715415.1:c.26350T>A (SYNE1)	XP_006715478.1:p.Tyr8784Asn
XM_006715416.1:c.26335T>A (SYNE1)	XP_006715479.1:p.Tyr8779Asn
XM_006715417.1:c.26320T>A (SYNE1)	XP_006715480.1:p.Tyr8774Asn
XM_006715420.1:c.26308T>A (SYNE1)	XP_006715483.1:p.Tyr8770Asn
XM_006715421.1:c.26305T>A (SYNE1)	XP_006715484.1:p.Tyr8769Asn
XM_006715422.1:c.26302T>A (SYNE1)	XP_006715485.1:p.Tyr8768Asn
XM_006715423.1:c.*125T>A (SYNE1)	XP_006715486.1:n.*125T>A
XM_006715424.1:c.*125T>A (SYNE1)	XP_006715487.1:n.*125T>A
XM_006715425.1:c.*125T>A (SYNE1)	XP_006715488.1:n.*125T>A
XM_011535641.1:c.26458T>A (SYNE1)	XP_011533943.1:p.Tyr8820Asn
XM_011535642.1:c.26446T>A (SYNE1)	XP_011533944.1:p.Tyr8816Asn
XM_011535643.1:c.26296T>A (SYNE1)	XP_011533945.1:p.Tyr8766Asn
XM_011535644.1:c.24736T>A (SYNE1)	XP_011533946.1:p.Tyr8246Asn
XM_011535645.1:c.24229T>A (SYNE1)	XP_011533947.1:p.Tyr8077Asn
XM_011535647.1:c.19696T>A (SYNE1)	XP_011533949.1:p.Tyr6566Asn
NM_001328100.1:c.851-2750A>T (ESR1)	NP_001315029.1:n.851-2750A>T
NM_001347701.1:c.*125T>A (SYNE1)	NP_001334630.1:n.*125T>A
NM_001347702.1:c.2848T>A (SYNE1)	NP_001334631.1:p.Tyr950Asn
XM_006715408.2:c.26449T>A (SYNE1)	XP_006715471.1:p.Tyr8817Asn
XM_006715410.2:c.26419T>A (SYNE1)	XP_006715473.1:p.Tyr8807Asn
XM_006715412.2:c.26404T>A (SYNE1)	XP_006715475.1:p.Tyr8802Asn
XM_006715413.2:c.26392T>A (SYNE1)	XP_006715476.1:p.Tyr8798Asn
XM_006715415.2:c.26350T>A (SYNE1)	XP_006715478.1:p.Tyr8784Asn
XM_006715416.2:c.26335T>A (SYNE1)	XP_006715479.1:p.Tyr8779Asn
XM_006715417.2:c.26320T>A (SYNE1)	XP_006715480.1:p.Tyr8774Asn
XM_006715420.2:c.26308T>A (SYNE1)	XP_006715483.1:p.Tyr8770Asn
XM_006715421.2:c.26305T>A (SYNE1)	XP_006715484.1:p.Tyr8769Asn
XM_006715423.2:c.*125T>A (SYNE1)	XP_006715486.1:n.*125T>A
XM_006715424.2:c.*125T>A (SYNE1)	XP_006715487.1:n.*125T>A
XM_006715425.2:c.*125T>A (SYNE1)	XP_006715488.1:n.*125T>A
XM_011535641.2:c.26458T>A (SYNE1)	XP_011533943.1:p.Tyr8820Asn
XM_011535642.2:c.26446T>A (SYNE1)	XP_011533944.1:p.Tyr8816Asn
XM_011535645.2:c.24229T>A (SYNE1)	XP_011533947.1:p.Tyr8077Asn
XM_017010608.1:c.26461T>A (SYNE1)	XP_016866097.1:p.Tyr8821Asn
XM_017010609.1:c.26461T>A (SYNE1)	XP_016866098.1:p.Tyr8821Asn
XM_017010610.1:c.26440T>A (SYNE1)	XP_016866099.1:p.Tyr8814Asn
XM_017010611.2:c.26434T>A (SYNE1)	XP_016866100.1:p.Tyr8812Asn
XM_017010612.1:c.26383T>A (SYNE1)	XP_016866101.1:p.Tyr8795Asn
XM_017010613.1:c.26347T>A (SYNE1)	XP_016866102.1:p.Tyr8783Asn
XM_017010614.1:c.26305T>A (SYNE1)	XP_016866103.1:p.Tyr8769Asn
XM_017010615.1:c.26194T>A (SYNE1)	XP_016866104.1:p.Tyr8732Asn
XM_017010616.1:c.*125T>A (SYNE1)	XP_016866105.1:n.*125T>A
XM_017010617.1:c.*125T>A (SYNE1)	XP_016866106.1:n.*125T>A
XM_017010618.1:c.*125T>A (SYNE1)	XP_016866107.1:n.*125T>A
XM_017010619.1:c.24736T>A (SYNE1)	XP_016866108.1:p.Tyr8246Asn
NM_182961.4:c.26314T>A (SYNE1) MANE Select	NP_892006.3:p.Tyr8772Asn
NM_001328100.2:c.851-2750A>T (ESR1)	NP_001315029.1:n.851-2750A>T
NM_001347701.2:c.*125T>A (SYNE1)	NP_001334630.1:n.*125T>A
NM_001347702.2:c.2848T>A (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Tyr950Asn
NM_033071.5:c.26170T>A (SYNE1)	NP_149062.2:p.Tyr8724Asn