Canonical Allele Identifier: CA366089135

Gene: SYNE1 ESR1

Linked Data

• dbSNP Id: rs1258213221
• MyVariant Identifiers: chr6:g.152443758G>A (hg19) ; chr6:g.152122623G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122623G>A , CM000668.2:g.152122623G>A	GRCh38
NC_000006.11:g.152443758G>A , CM000668.1:g.152443758G>A	GRCh37
NC_000006.10:g.152485451G>A	NCBI36
NG_012855.1:g.519777C>T
NG_008493.2:g.470933G>A
NG_012855.2:g.519777C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2741C>T (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Ser914Phe
ENST00000367255.10:c.26207C>T (SYNE1) MANE Select	ENSP00000356224.5:p.Ser8736Phe
ENST00000423061.6:c.26063C>T (SYNE1)	ENSP00000396024.1:p.Ser8688Phe
ENST00000672154.1:c.1550C>T (SYNE1)
ENST00000672169.1:c.1925C>T (SYNE1)
ENST00000673173.1:c.1792C>T (SYNE1)
ENST00000673451.1:c.2057C>T (SYNE1)	ENSP00000500189.1:n.2057C>T
ENST00000341594.9:c.24992C>T (SYNE1)	ENSP00000341887.6:p.Ser8331Phe
ENST00000347037.9:n.2955C>T (SYNE1)
ENST00000354674.4:c.2741C>T (SYNE1)	ENSP00000346701.4:p.Ser914Phe
ENST00000367251.7:c.4983C>T (SYNE1)	ENSP00000356220.3:n.4983C>T
ENST00000367255.9:c.26207C>T (SYNE1)	ENSP00000356224.5:p.Ser8736Phe
ENST00000367256.9:n.9899C>T (SYNE1)
ENST00000367257.8:c.4086C>T (SYNE1)	ENSP00000356226.4:n.4086C>T
ENST00000409694.6:n.9791C>T (SYNE1)
ENST00000423061.5:c.26063C>T (SYNE1)	ENSP00000396024.1:p.Ser8688Phe
ENST00000427531.6:c.851-2643G>A (ESR1)	ENSP00000394721.2:n.851-2643G>A
ENST00000460912.6:n.2821C>T (SYNE1)
ENST00000478916.5:n.6844C>T (SYNE1)
ENST00000536990.5:n.2985C>T (SYNE1)
ENST00000539504.5:c.2672C>T (SYNE1)	ENSP00000441052.1:p.Ser891Phe
NM_033071.3:c.26063C>T (SYNE1)	NP_149062.1:p.Ser8688Phe
NM_182961.3:c.26207C>T (SYNE1)	NP_892006.3:p.Ser8736Phe
XM_006715407.1:c.26354C>T (SYNE1)	XP_006715470.1:p.Ser8785Phe
XM_006715408.1:c.26342C>T (SYNE1)	XP_006715471.1:p.Ser8781Phe
XM_006715409.1:c.26333C>T (SYNE1)	XP_006715472.1:p.Ser8778Phe
XM_006715410.1:c.26312C>T (SYNE1)	XP_006715473.1:p.Ser8771Phe
XM_006715411.1:c.26303C>T (SYNE1)	XP_006715474.1:p.Ser8768Phe
XM_006715412.1:c.26297C>T (SYNE1)	XP_006715475.1:p.Ser8766Phe
XM_006715413.1:c.26285C>T (SYNE1)	XP_006715476.1:p.Ser8762Phe
XM_006715414.1:c.26282C>T (SYNE1)	XP_006715477.1:p.Ser8761Phe
XM_006715415.1:c.26243C>T (SYNE1)	XP_006715478.1:p.Ser8748Phe
XM_006715416.1:c.26228C>T (SYNE1)	XP_006715479.1:p.Ser8743Phe
XM_006715417.1:c.26213C>T (SYNE1)	XP_006715480.1:p.Ser8738Phe
XM_006715420.1:c.26201C>T (SYNE1)	XP_006715483.1:p.Ser8734Phe
XM_006715421.1:c.26198C>T (SYNE1)	XP_006715484.1:p.Ser8733Phe
XM_006715422.1:c.26195C>T (SYNE1)	XP_006715485.1:p.Ser8732Phe
XM_006715423.1:c.*18C>T (SYNE1)	XP_006715486.1:n.*18C>T
XM_006715424.1:c.*18C>T (SYNE1)	XP_006715487.1:n.*18C>T
XM_006715425.1:c.*18C>T (SYNE1)	XP_006715488.1:n.*18C>T
XM_011535641.1:c.26351C>T (SYNE1)	XP_011533943.1:p.Ser8784Phe
XM_011535642.1:c.26339C>T (SYNE1)	XP_011533944.1:p.Ser8780Phe
XM_011535643.1:c.26189C>T (SYNE1)	XP_011533945.1:p.Ser8730Phe
XM_011535644.1:c.24629C>T (SYNE1)	XP_011533946.1:p.Ser8210Phe
XM_011535645.1:c.24122C>T (SYNE1)	XP_011533947.1:p.Ser8041Phe
XM_011535647.1:c.19589C>T (SYNE1)	XP_011533949.1:p.Ser6530Phe
NM_001328100.1:c.851-2643G>A (ESR1)	NP_001315029.1:n.851-2643G>A
NM_001347701.1:c.*18C>T (SYNE1)	NP_001334630.1:n.*18C>T
NM_001347702.1:c.2741C>T (SYNE1)	NP_001334631.1:p.Ser914Phe
XM_006715408.2:c.26342C>T (SYNE1)	XP_006715471.1:p.Ser8781Phe
XM_006715410.2:c.26312C>T (SYNE1)	XP_006715473.1:p.Ser8771Phe
XM_006715412.2:c.26297C>T (SYNE1)	XP_006715475.1:p.Ser8766Phe
XM_006715413.2:c.26285C>T (SYNE1)	XP_006715476.1:p.Ser8762Phe
XM_006715415.2:c.26243C>T (SYNE1)	XP_006715478.1:p.Ser8748Phe
XM_006715416.2:c.26228C>T (SYNE1)	XP_006715479.1:p.Ser8743Phe
XM_006715417.2:c.26213C>T (SYNE1)	XP_006715480.1:p.Ser8738Phe
XM_006715420.2:c.26201C>T (SYNE1)	XP_006715483.1:p.Ser8734Phe
XM_006715421.2:c.26198C>T (SYNE1)	XP_006715484.1:p.Ser8733Phe
XM_006715423.2:c.*18C>T (SYNE1)	XP_006715486.1:n.*18C>T
XM_006715424.2:c.*18C>T (SYNE1)	XP_006715487.1:n.*18C>T
XM_006715425.2:c.*18C>T (SYNE1)	XP_006715488.1:n.*18C>T
XM_011535641.2:c.26351C>T (SYNE1)	XP_011533943.1:p.Ser8784Phe
XM_011535642.2:c.26339C>T (SYNE1)	XP_011533944.1:p.Ser8780Phe
XM_011535645.2:c.24122C>T (SYNE1)	XP_011533947.1:p.Ser8041Phe
XM_017010608.1:c.26354C>T (SYNE1)	XP_016866097.1:p.Ser8785Phe
XM_017010609.1:c.26354C>T (SYNE1)	XP_016866098.1:p.Ser8785Phe
XM_017010610.1:c.26333C>T (SYNE1)	XP_016866099.1:p.Ser8778Phe
XM_017010611.2:c.26327C>T (SYNE1)	XP_016866100.1:p.Ser8776Phe
XM_017010612.1:c.26276C>T (SYNE1)	XP_016866101.1:p.Ser8759Phe
XM_017010613.1:c.26240C>T (SYNE1)	XP_016866102.1:p.Ser8747Phe
XM_017010614.1:c.26198C>T (SYNE1)	XP_016866103.1:p.Ser8733Phe
XM_017010615.1:c.26087C>T (SYNE1)	XP_016866104.1:p.Ser8696Phe
XM_017010616.1:c.*18C>T (SYNE1)	XP_016866105.1:n.*18C>T
XM_017010617.1:c.*18C>T (SYNE1)	XP_016866106.1:n.*18C>T
XM_017010618.1:c.*18C>T (SYNE1)	XP_016866107.1:n.*18C>T
XM_017010619.1:c.24629C>T (SYNE1)	XP_016866108.1:p.Ser8210Phe
NM_182961.4:c.26207C>T (SYNE1) MANE Select	NP_892006.3:p.Ser8736Phe
NM_001328100.2:c.851-2643G>A (ESR1)	NP_001315029.1:n.851-2643G>A
NM_001347701.2:c.*18C>T (SYNE1)	NP_001334630.1:n.*18C>T
NM_001347702.2:c.2741C>T (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Ser914Phe
NM_033071.5:c.26063C>T (SYNE1)	NP_149062.2:p.Ser8688Phe