Canonical Allele Identifier: CA366089004

Gene: SYNE1 ESR1

Linked Data

• dbSNP Id: rs1474908833
• gnomAD v4: 6-152122588-C-T
• MyVariant Identifiers: chr6:g.152443723C>T (hg19) ; chr6:g.152122588C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152122588C>T , CM000668.2:g.152122588C>T	GRCh38
NC_000006.11:g.152443723C>T , CM000668.1:g.152443723C>T	GRCh37
NC_000006.10:g.152485416C>T	NCBI36
NG_012855.1:g.519812G>A
NG_008493.2:g.470898C>T
NG_012855.2:g.519812G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.2776G>A (SYNE1) MANE Plus Clinical	ENSP00000346701.4:p.Ala926Thr
ENST00000367255.10:c.26242G>A (SYNE1) MANE Select	ENSP00000356224.5:p.Ala8748Thr
ENST00000423061.6:c.26098G>A (SYNE1)	ENSP00000396024.1:p.Ala8700Thr
ENST00000672154.1:c.1585G>A (SYNE1)
ENST00000672169.1:c.1960G>A (SYNE1)
ENST00000673173.1:c.1827G>A (SYNE1)
ENST00000673451.1:c.2092G>A (SYNE1)	ENSP00000500189.1:n.2092G>A
ENST00000341594.9:c.25027G>A (SYNE1)	ENSP00000341887.6:p.Ala8343Thr
ENST00000347037.9:n.2990G>A (SYNE1)
ENST00000354674.4:c.2776G>A (SYNE1)	ENSP00000346701.4:p.Ala926Thr
ENST00000367251.7:c.5018G>A (SYNE1)	ENSP00000356220.3:n.5018G>A
ENST00000367255.9:c.26242G>A (SYNE1)	ENSP00000356224.5:p.Ala8748Thr
ENST00000367256.9:n.9934G>A (SYNE1)
ENST00000367257.8:c.4121G>A (SYNE1)	ENSP00000356226.4:n.4121G>A
ENST00000409694.6:n.9826G>A (SYNE1)
ENST00000423061.5:c.26098G>A (SYNE1)	ENSP00000396024.1:p.Ala8700Thr
ENST00000427531.6:c.851-2678C>T (ESR1)	ENSP00000394721.2:n.851-2678C>T
ENST00000460912.6:n.2856G>A (SYNE1)
ENST00000478916.5:n.6879G>A (SYNE1)
ENST00000539504.5:c.2707G>A (SYNE1)	ENSP00000441052.1:p.Ala903Thr
NM_033071.3:c.26098G>A (SYNE1)	NP_149062.1:p.Ala8700Thr
NM_182961.3:c.26242G>A (SYNE1)	NP_892006.3:p.Ala8748Thr
XM_006715407.1:c.26389G>A (SYNE1)	XP_006715470.1:p.Ala8797Thr
XM_006715408.1:c.26377G>A (SYNE1)	XP_006715471.1:p.Ala8793Thr
XM_006715409.1:c.26368G>A (SYNE1)	XP_006715472.1:p.Ala8790Thr
XM_006715410.1:c.26347G>A (SYNE1)	XP_006715473.1:p.Ala8783Thr
XM_006715411.1:c.26338G>A (SYNE1)	XP_006715474.1:p.Ala8780Thr
XM_006715412.1:c.26332G>A (SYNE1)	XP_006715475.1:p.Ala8778Thr
XM_006715413.1:c.26320G>A (SYNE1)	XP_006715476.1:p.Ala8774Thr
XM_006715414.1:c.26317G>A (SYNE1)	XP_006715477.1:p.Ala8773Thr
XM_006715415.1:c.26278G>A (SYNE1)	XP_006715478.1:p.Ala8760Thr
XM_006715416.1:c.26263G>A (SYNE1)	XP_006715479.1:p.Ala8755Thr
XM_006715417.1:c.26248G>A (SYNE1)	XP_006715480.1:p.Ala8750Thr
XM_006715420.1:c.26236G>A (SYNE1)	XP_006715483.1:p.Ala8746Thr
XM_006715421.1:c.26233G>A (SYNE1)	XP_006715484.1:p.Ala8745Thr
XM_006715422.1:c.26230G>A (SYNE1)	XP_006715485.1:p.Ala8744Thr
XM_006715423.1:c.*53G>A (SYNE1)	XP_006715486.1:n.*53G>A
XM_006715424.1:c.*53G>A (SYNE1)	XP_006715487.1:n.*53G>A
XM_006715425.1:c.*53G>A (SYNE1)	XP_006715488.1:n.*53G>A
XM_011535641.1:c.26386G>A (SYNE1)	XP_011533943.1:p.Ala8796Thr
XM_011535642.1:c.26374G>A (SYNE1)	XP_011533944.1:p.Ala8792Thr
XM_011535643.1:c.26224G>A (SYNE1)	XP_011533945.1:p.Ala8742Thr
XM_011535644.1:c.24664G>A (SYNE1)	XP_011533946.1:p.Ala8222Thr
XM_011535645.1:c.24157G>A (SYNE1)	XP_011533947.1:p.Ala8053Thr
XM_011535647.1:c.19624G>A (SYNE1)	XP_011533949.1:p.Ala6542Thr
NM_001328100.1:c.851-2678C>T (ESR1)	NP_001315029.1:n.851-2678C>T
NM_001347701.1:c.*53G>A (SYNE1)	NP_001334630.1:n.*53G>A
NM_001347702.1:c.2776G>A (SYNE1)	NP_001334631.1:p.Ala926Thr
XM_006715408.2:c.26377G>A (SYNE1)	XP_006715471.1:p.Ala8793Thr
XM_006715410.2:c.26347G>A (SYNE1)	XP_006715473.1:p.Ala8783Thr
XM_006715412.2:c.26332G>A (SYNE1)	XP_006715475.1:p.Ala8778Thr
XM_006715413.2:c.26320G>A (SYNE1)	XP_006715476.1:p.Ala8774Thr
XM_006715415.2:c.26278G>A (SYNE1)	XP_006715478.1:p.Ala8760Thr
XM_006715416.2:c.26263G>A (SYNE1)	XP_006715479.1:p.Ala8755Thr
XM_006715417.2:c.26248G>A (SYNE1)	XP_006715480.1:p.Ala8750Thr
XM_006715420.2:c.26236G>A (SYNE1)	XP_006715483.1:p.Ala8746Thr
XM_006715421.2:c.26233G>A (SYNE1)	XP_006715484.1:p.Ala8745Thr
XM_006715423.2:c.*53G>A (SYNE1)	XP_006715486.1:n.*53G>A
XM_006715424.2:c.*53G>A (SYNE1)	XP_006715487.1:n.*53G>A
XM_006715425.2:c.*53G>A (SYNE1)	XP_006715488.1:n.*53G>A
XM_011535641.2:c.26386G>A (SYNE1)	XP_011533943.1:p.Ala8796Thr
XM_011535642.2:c.26374G>A (SYNE1)	XP_011533944.1:p.Ala8792Thr
XM_011535645.2:c.24157G>A (SYNE1)	XP_011533947.1:p.Ala8053Thr
XM_017010608.1:c.26389G>A (SYNE1)	XP_016866097.1:p.Ala8797Thr
XM_017010609.1:c.26389G>A (SYNE1)	XP_016866098.1:p.Ala8797Thr
XM_017010610.1:c.26368G>A (SYNE1)	XP_016866099.1:p.Ala8790Thr
XM_017010611.2:c.26362G>A (SYNE1)	XP_016866100.1:p.Ala8788Thr
XM_017010612.1:c.26311G>A (SYNE1)	XP_016866101.1:p.Ala8771Thr
XM_017010613.1:c.26275G>A (SYNE1)	XP_016866102.1:p.Ala8759Thr
XM_017010614.1:c.26233G>A (SYNE1)	XP_016866103.1:p.Ala8745Thr
XM_017010615.1:c.26122G>A (SYNE1)	XP_016866104.1:p.Ala8708Thr
XM_017010616.1:c.*53G>A (SYNE1)	XP_016866105.1:n.*53G>A
XM_017010617.1:c.*53G>A (SYNE1)	XP_016866106.1:n.*53G>A
XM_017010618.1:c.*53G>A (SYNE1)	XP_016866107.1:n.*53G>A
XM_017010619.1:c.24664G>A (SYNE1)	XP_016866108.1:p.Ala8222Thr
NM_182961.4:c.26242G>A (SYNE1) MANE Select	NP_892006.3:p.Ala8748Thr
NM_001328100.2:c.851-2678C>T (ESR1)	NP_001315029.1:n.851-2678C>T
NM_001347701.2:c.*53G>A (SYNE1)	NP_001334630.1:n.*53G>A
NM_001347702.2:c.2776G>A (SYNE1) MANE Plus Clinical	NP_001334631.1:p.Ala926Thr
NM_033071.5:c.26098G>A (SYNE1)	NP_149062.2:p.Ala8700Thr