Canonical Allele Identifier: CA366089038

Gene: SYNE1 ESR1

Linked Data

• MyVariant Identifiers: chr6:g.152443734A>G (hg19) ; chr6:g.152122599A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122599A>G , CM000668.2:g.152122599A>G	GRCh38
NC_000006.11:g.152443734A>G , CM000668.1:g.152443734A>G	GRCh37
NC_000006.10:g.152485427A>G	NCBI36
NG_012855.1:g.519801T>C
NG_008493.2:g.470909A>G
NG_012855.2:g.519801T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2765T>C (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Val922Ala
ENST00000367255.10:c.26231T>C (SYNE1) MANE Select	ENSP00000356224.5:p.Val8744Ala
ENST00000423061.6:c.26087T>C (SYNE1)	ENSP00000396024.1:p.Val8696Ala
ENST00000672154.1:c.1574T>C (SYNE1)
ENST00000672169.1:c.1949T>C (SYNE1)
ENST00000673173.1:c.1816T>C (SYNE1)
ENST00000673451.1:c.2081T>C (SYNE1)	ENSP00000500189.1:n.2081T>C
ENST00000341594.9:c.25016T>C (SYNE1)	ENSP00000341887.6:p.Val8339Ala
ENST00000347037.9:n.2979T>C (SYNE1)
ENST00000354674.4:c.2765T>C (SYNE1)	ENSP00000346701.4:p.Val922Ala
ENST00000367251.7:c.5007T>C (SYNE1)	ENSP00000356220.3:n.5007T>C
ENST00000367255.9:c.26231T>C (SYNE1)	ENSP00000356224.5:p.Val8744Ala
ENST00000367256.9:n.9923T>C (SYNE1)
ENST00000367257.8:c.4110T>C (SYNE1)	ENSP00000356226.4:n.4110T>C
ENST00000409694.6:n.9815T>C (SYNE1)
ENST00000423061.5:c.26087T>C (SYNE1)	ENSP00000396024.1:p.Val8696Ala
ENST00000427531.6:c.851-2667A>G (ESR1)	ENSP00000394721.2:n.851-2667A>G
ENST00000460912.6:n.2845T>C (SYNE1)
ENST00000478916.5:n.6868T>C (SYNE1)
ENST00000539504.5:c.2696T>C (SYNE1)	ENSP00000441052.1:p.Val899Ala
NM_033071.3:c.26087T>C (SYNE1)	NP_149062.1:p.Val8696Ala
NM_182961.3:c.26231T>C (SYNE1)	NP_892006.3:p.Val8744Ala
XM_006715407.1:c.26378T>C (SYNE1)	XP_006715470.1:p.Val8793Ala
XM_006715408.1:c.26366T>C (SYNE1)	XP_006715471.1:p.Val8789Ala
XM_006715409.1:c.26357T>C (SYNE1)	XP_006715472.1:p.Val8786Ala
XM_006715410.1:c.26336T>C (SYNE1)	XP_006715473.1:p.Val8779Ala
XM_006715411.1:c.26327T>C (SYNE1)	XP_006715474.1:p.Val8776Ala
XM_006715412.1:c.26321T>C (SYNE1)	XP_006715475.1:p.Val8774Ala
XM_006715413.1:c.26309T>C (SYNE1)	XP_006715476.1:p.Val8770Ala
XM_006715414.1:c.26306T>C (SYNE1)	XP_006715477.1:p.Val8769Ala
XM_006715415.1:c.26267T>C (SYNE1)	XP_006715478.1:p.Val8756Ala
XM_006715416.1:c.26252T>C (SYNE1)	XP_006715479.1:p.Val8751Ala
XM_006715417.1:c.26237T>C (SYNE1)	XP_006715480.1:p.Val8746Ala
XM_006715420.1:c.26225T>C (SYNE1)	XP_006715483.1:p.Val8742Ala
XM_006715421.1:c.26222T>C (SYNE1)	XP_006715484.1:p.Val8741Ala
XM_006715422.1:c.26219T>C (SYNE1)	XP_006715485.1:p.Val8740Ala
XM_006715423.1:c.*42T>C (SYNE1)	XP_006715486.1:n.*42T>C
XM_006715424.1:c.*42T>C (SYNE1)	XP_006715487.1:n.*42T>C
XM_006715425.1:c.*42T>C (SYNE1)	XP_006715488.1:n.*42T>C
XM_011535641.1:c.26375T>C (SYNE1)	XP_011533943.1:p.Val8792Ala
XM_011535642.1:c.26363T>C (SYNE1)	XP_011533944.1:p.Val8788Ala
XM_011535643.1:c.26213T>C (SYNE1)	XP_011533945.1:p.Val8738Ala
XM_011535644.1:c.24653T>C (SYNE1)	XP_011533946.1:p.Val8218Ala
XM_011535645.1:c.24146T>C (SYNE1)	XP_011533947.1:p.Val8049Ala
XM_011535647.1:c.19613T>C (SYNE1)	XP_011533949.1:p.Val6538Ala
NM_001328100.1:c.851-2667A>G (ESR1)	NP_001315029.1:n.851-2667A>G
NM_001347701.1:c.*42T>C (SYNE1)	NP_001334630.1:n.*42T>C
NM_001347702.1:c.2765T>C (SYNE1)	NP_001334631.1:p.Val922Ala
XM_006715408.2:c.26366T>C (SYNE1)	XP_006715471.1:p.Val8789Ala
XM_006715410.2:c.26336T>C (SYNE1)	XP_006715473.1:p.Val8779Ala
XM_006715412.2:c.26321T>C (SYNE1)	XP_006715475.1:p.Val8774Ala
XM_006715413.2:c.26309T>C (SYNE1)	XP_006715476.1:p.Val8770Ala
XM_006715415.2:c.26267T>C (SYNE1)	XP_006715478.1:p.Val8756Ala
XM_006715416.2:c.26252T>C (SYNE1)	XP_006715479.1:p.Val8751Ala
XM_006715417.2:c.26237T>C (SYNE1)	XP_006715480.1:p.Val8746Ala
XM_006715420.2:c.26225T>C (SYNE1)	XP_006715483.1:p.Val8742Ala
XM_006715421.2:c.26222T>C (SYNE1)	XP_006715484.1:p.Val8741Ala
XM_006715423.2:c.*42T>C (SYNE1)	XP_006715486.1:n.*42T>C
XM_006715424.2:c.*42T>C (SYNE1)	XP_006715487.1:n.*42T>C
XM_006715425.2:c.*42T>C (SYNE1)	XP_006715488.1:n.*42T>C
XM_011535641.2:c.26375T>C (SYNE1)	XP_011533943.1:p.Val8792Ala
XM_011535642.2:c.26363T>C (SYNE1)	XP_011533944.1:p.Val8788Ala
XM_011535645.2:c.24146T>C (SYNE1)	XP_011533947.1:p.Val8049Ala
XM_017010608.1:c.26378T>C (SYNE1)	XP_016866097.1:p.Val8793Ala
XM_017010609.1:c.26378T>C (SYNE1)	XP_016866098.1:p.Val8793Ala
XM_017010610.1:c.26357T>C (SYNE1)	XP_016866099.1:p.Val8786Ala
XM_017010611.2:c.26351T>C (SYNE1)	XP_016866100.1:p.Val8784Ala
XM_017010612.1:c.26300T>C (SYNE1)	XP_016866101.1:p.Val8767Ala
XM_017010613.1:c.26264T>C (SYNE1)	XP_016866102.1:p.Val8755Ala
XM_017010614.1:c.26222T>C (SYNE1)	XP_016866103.1:p.Val8741Ala
XM_017010615.1:c.26111T>C (SYNE1)	XP_016866104.1:p.Val8704Ala
XM_017010616.1:c.*42T>C (SYNE1)	XP_016866105.1:n.*42T>C
XM_017010617.1:c.*42T>C (SYNE1)	XP_016866106.1:n.*42T>C
XM_017010618.1:c.*42T>C (SYNE1)	XP_016866107.1:n.*42T>C
XM_017010619.1:c.24653T>C (SYNE1)	XP_016866108.1:p.Val8218Ala
NM_182961.4:c.26231T>C (SYNE1) MANE Select	NP_892006.3:p.Val8744Ala
NM_001328100.2:c.851-2667A>G (ESR1)	NP_001315029.1:n.851-2667A>G
NM_001347701.2:c.*42T>C (SYNE1)	NP_001334630.1:n.*42T>C
NM_001347702.2:c.2765T>C (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Val922Ala
NM_033071.5:c.26087T>C (SYNE1)	NP_149062.2:p.Val8696Ala