Canonical Allele Identifier: CA366089167

Gene: SYNE1 ESR1

Linked Data

• gnomAD v4: 6-152122632-G-C
• MyVariant Identifiers: chr6:g.152443767G>C (hg19) ; chr6:g.152122632G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122632G>C , CM000668.2:g.152122632G>C	GRCh38
NC_000006.11:g.152443767G>C , CM000668.1:g.152443767G>C	GRCh37
NC_000006.10:g.152485460G>C	NCBI36
NG_012855.1:g.519768C>G
NG_008493.2:g.470942G>C
NG_012855.2:g.519768C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2732C>G (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Pro911Arg
ENST00000367255.10:c.26198C>G (SYNE1) MANE Select	ENSP00000356224.5:p.Pro8733Arg
ENST00000423061.6:c.26054C>G (SYNE1)	ENSP00000396024.1:p.Pro8685Arg
ENST00000672154.1:c.1541C>G (SYNE1)
ENST00000672169.1:c.1916C>G (SYNE1)
ENST00000673173.1:c.1783C>G (SYNE1)
ENST00000673451.1:c.2048C>G (SYNE1)	ENSP00000500189.1:n.2048C>G
ENST00000341594.9:c.24983C>G (SYNE1)	ENSP00000341887.6:p.Pro8328Arg
ENST00000347037.9:n.2946C>G (SYNE1)
ENST00000354674.4:c.2732C>G (SYNE1)	ENSP00000346701.4:p.Pro911Arg
ENST00000367251.7:c.4974C>G (SYNE1)	ENSP00000356220.3:n.4974C>G
ENST00000367255.9:c.26198C>G (SYNE1)	ENSP00000356224.5:p.Pro8733Arg
ENST00000367256.9:n.9890C>G (SYNE1)
ENST00000367257.8:c.4077C>G (SYNE1)	ENSP00000356226.4:n.4077C>G
ENST00000409694.6:n.9782C>G (SYNE1)
ENST00000423061.5:c.26054C>G (SYNE1)	ENSP00000396024.1:p.Pro8685Arg
ENST00000427531.6:c.851-2634G>C (ESR1)	ENSP00000394721.2:n.851-2634G>C
ENST00000460912.6:n.2812C>G (SYNE1)
ENST00000478916.5:n.6835C>G (SYNE1)
ENST00000536990.5:n.2976C>G (SYNE1)
ENST00000539504.5:c.2663C>G (SYNE1)	ENSP00000441052.1:p.Pro888Arg
NM_033071.3:c.26054C>G (SYNE1)	NP_149062.1:p.Pro8685Arg
NM_182961.3:c.26198C>G (SYNE1)	NP_892006.3:p.Pro8733Arg
XM_006715407.1:c.26345C>G (SYNE1)	XP_006715470.1:p.Pro8782Arg
XM_006715408.1:c.26333C>G (SYNE1)	XP_006715471.1:p.Pro8778Arg
XM_006715409.1:c.26324C>G (SYNE1)	XP_006715472.1:p.Pro8775Arg
XM_006715410.1:c.26303C>G (SYNE1)	XP_006715473.1:p.Pro8768Arg
XM_006715411.1:c.26294C>G (SYNE1)	XP_006715474.1:p.Pro8765Arg
XM_006715412.1:c.26288C>G (SYNE1)	XP_006715475.1:p.Pro8763Arg
XM_006715413.1:c.26276C>G (SYNE1)	XP_006715476.1:p.Pro8759Arg
XM_006715414.1:c.26273C>G (SYNE1)	XP_006715477.1:p.Pro8758Arg
XM_006715415.1:c.26234C>G (SYNE1)	XP_006715478.1:p.Pro8745Arg
XM_006715416.1:c.26219C>G (SYNE1)	XP_006715479.1:p.Pro8740Arg
XM_006715417.1:c.26204C>G (SYNE1)	XP_006715480.1:p.Pro8735Arg
XM_006715420.1:c.26192C>G (SYNE1)	XP_006715483.1:p.Pro8731Arg
XM_006715421.1:c.26189C>G (SYNE1)	XP_006715484.1:p.Pro8730Arg
XM_006715422.1:c.26186C>G (SYNE1)	XP_006715485.1:p.Pro8729Arg
XM_006715423.1:c.*9C>G (SYNE1)	XP_006715486.1:n.*9C>G
XM_006715424.1:c.*9C>G (SYNE1)	XP_006715487.1:n.*9C>G
XM_006715425.1:c.*9C>G (SYNE1)	XP_006715488.1:n.*9C>G
XM_011535641.1:c.26342C>G (SYNE1)	XP_011533943.1:p.Pro8781Arg
XM_011535642.1:c.26330C>G (SYNE1)	XP_011533944.1:p.Pro8777Arg
XM_011535643.1:c.26180C>G (SYNE1)	XP_011533945.1:p.Pro8727Arg
XM_011535644.1:c.24620C>G (SYNE1)	XP_011533946.1:p.Pro8207Arg
XM_011535645.1:c.24113C>G (SYNE1)	XP_011533947.1:p.Pro8038Arg
XM_011535647.1:c.19580C>G (SYNE1)	XP_011533949.1:p.Pro6527Arg
NM_001328100.1:c.851-2634G>C (ESR1)	NP_001315029.1:n.851-2634G>C
NM_001347701.1:c.*9C>G (SYNE1)	NP_001334630.1:n.*9C>G
NM_001347702.1:c.2732C>G (SYNE1)	NP_001334631.1:p.Pro911Arg
XM_006715408.2:c.26333C>G (SYNE1)	XP_006715471.1:p.Pro8778Arg
XM_006715410.2:c.26303C>G (SYNE1)	XP_006715473.1:p.Pro8768Arg
XM_006715412.2:c.26288C>G (SYNE1)	XP_006715475.1:p.Pro8763Arg
XM_006715413.2:c.26276C>G (SYNE1)	XP_006715476.1:p.Pro8759Arg
XM_006715415.2:c.26234C>G (SYNE1)	XP_006715478.1:p.Pro8745Arg
XM_006715416.2:c.26219C>G (SYNE1)	XP_006715479.1:p.Pro8740Arg
XM_006715417.2:c.26204C>G (SYNE1)	XP_006715480.1:p.Pro8735Arg
XM_006715420.2:c.26192C>G (SYNE1)	XP_006715483.1:p.Pro8731Arg
XM_006715421.2:c.26189C>G (SYNE1)	XP_006715484.1:p.Pro8730Arg
XM_006715423.2:c.*9C>G (SYNE1)	XP_006715486.1:n.*9C>G
XM_006715424.2:c.*9C>G (SYNE1)	XP_006715487.1:n.*9C>G
XM_006715425.2:c.*9C>G (SYNE1)	XP_006715488.1:n.*9C>G
XM_011535641.2:c.26342C>G (SYNE1)	XP_011533943.1:p.Pro8781Arg
XM_011535642.2:c.26330C>G (SYNE1)	XP_011533944.1:p.Pro8777Arg
XM_011535645.2:c.24113C>G (SYNE1)	XP_011533947.1:p.Pro8038Arg
XM_017010608.1:c.26345C>G (SYNE1)	XP_016866097.1:p.Pro8782Arg
XM_017010609.1:c.26345C>G (SYNE1)	XP_016866098.1:p.Pro8782Arg
XM_017010610.1:c.26324C>G (SYNE1)	XP_016866099.1:p.Pro8775Arg
XM_017010611.2:c.26318C>G (SYNE1)	XP_016866100.1:p.Pro8773Arg
XM_017010612.1:c.26267C>G (SYNE1)	XP_016866101.1:p.Pro8756Arg
XM_017010613.1:c.26231C>G (SYNE1)	XP_016866102.1:p.Pro8744Arg
XM_017010614.1:c.26189C>G (SYNE1)	XP_016866103.1:p.Pro8730Arg
XM_017010615.1:c.26078C>G (SYNE1)	XP_016866104.1:p.Pro8693Arg
XM_017010616.1:c.*9C>G (SYNE1)	XP_016866105.1:n.*9C>G
XM_017010617.1:c.*9C>G (SYNE1)	XP_016866106.1:n.*9C>G
XM_017010618.1:c.*9C>G (SYNE1)	XP_016866107.1:n.*9C>G
XM_017010619.1:c.24620C>G (SYNE1)	XP_016866108.1:p.Pro8207Arg
NM_182961.4:c.26198C>G (SYNE1) MANE Select	NP_892006.3:p.Pro8733Arg
NM_001328100.2:c.851-2634G>C (ESR1)	NP_001315029.1:n.851-2634G>C
NM_001347701.2:c.*9C>G (SYNE1)	NP_001334630.1:n.*9C>G
NM_001347702.2:c.2732C>G (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Pro911Arg
NM_033071.5:c.26054C>G (SYNE1)	NP_149062.2:p.Pro8685Arg