Canonical Allele Identifier: CA366079909

Gene: SYNE1

Linked Data

• gnomAD v4: 6-152139950-C-A
• MyVariant Identifiers: chr6:g.152461085C>A (hg19) ; chr6:g.152139950C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152139950C>A , CM000668.2:g.152139950C>A	GRCh38
NC_000006.11:g.152461085C>A , CM000668.1:g.152461085C>A	GRCh37
NC_000006.10:g.152502778C>A	NCBI36
NG_012855.1:g.502450G>T
NG_012855.2:g.502450G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1992G>T MANE Plus Clinical	ENSP00000346701.4:p.Lys664Asn
ENST00000367255.10:c.25458G>T MANE Select	ENSP00000356224.5:p.Lys8486Asn
ENST00000423061.6:c.25314G>T	ENSP00000396024.1:p.Lys8438Asn
ENST00000672154.1:c.860G>T
ENST00000672169.1:c.1193G>T
ENST00000673173.1:c.1102G>T
ENST00000673451.1:c.1230G>T	ENSP00000500189.1:p.Lys410Asn
ENST00000341594.9:c.24243G>T	ENSP00000341887.6:p.Lys8081Asn
ENST00000347037.9:n.2206G>T
ENST00000354674.4:c.1992G>T	ENSP00000346701.4:p.Lys664Asn
ENST00000367251.7:c.4293G>T	ENSP00000356220.3:p.Lys1431Asn
ENST00000367255.9:c.25458G>T	ENSP00000356224.5:p.Lys8486Asn
ENST00000367256.9:n.9150G>T
ENST00000367257.8:c.3396G>T	ENSP00000356226.4:p.Lys1132Asn
ENST00000409694.6:n.9042G>T
ENST00000423061.5:c.25314G>T	ENSP00000396024.1:p.Lys8438Asn
ENST00000460912.6:n.2072G>T
ENST00000478916.5:n.4480G>T
ENST00000536990.5:n.2295G>T
ENST00000539504.5:c.1923G>T	ENSP00000441052.1:p.Lys641Asn
NM_033071.3:c.25314G>T	NP_149062.1:p.Lys8438Asn
NM_182961.3:c.25458G>T	NP_892006.3:p.Lys8486Asn
XM_006715407.1:c.25563G>T	XP_006715470.1:p.Lys8521Asn
XM_006715408.1:c.25551G>T	XP_006715471.1:p.Lys8517Asn
XM_006715409.1:c.25542G>T	XP_006715472.1:p.Lys8514Asn
XM_006715410.1:c.25563G>T	XP_006715473.1:p.Lys8521Asn
XM_006715411.1:c.25512G>T	XP_006715474.1:p.Lys8504Asn
XM_006715412.1:c.25548G>T	XP_006715475.1:p.Lys8516Asn
XM_006715413.1:c.25494G>T	XP_006715476.1:p.Lys8498Asn
XM_006715414.1:c.25491G>T	XP_006715477.1:p.Lys8497Asn
XM_006715415.1:c.25494G>T	XP_006715478.1:p.Lys8498Asn
XM_006715416.1:c.25479G>T	XP_006715479.1:p.Lys8493Asn
XM_006715417.1:c.25422G>T	XP_006715480.1:p.Lys8474Asn
XM_006715420.1:c.25410G>T	XP_006715483.1:p.Lys8470Asn
XM_006715421.1:c.25407G>T	XP_006715484.1:p.Lys8469Asn
XM_006715422.1:c.25404G>T	XP_006715485.1:p.Lys8468Asn
XM_006715423.1:c.25563G>T	XP_006715486.1:p.Lys8521Asn
XM_006715424.1:c.25563G>T	XP_006715487.1:p.Lys8521Asn
XM_006715425.1:c.25494G>T	XP_006715488.1:p.Lys8498Asn
XM_011535641.1:c.25560G>T	XP_011533943.1:p.Lys8520Asn
XM_011535642.1:c.25548G>T	XP_011533944.1:p.Lys8516Asn
XM_011535643.1:c.25398G>T	XP_011533945.1:p.Lys8466Asn
XM_011535644.1:c.23838G>T	XP_011533946.1:p.Lys7946Asn
XM_011535645.1:c.23331G>T	XP_011533947.1:p.Lys7777Asn
XM_011535647.1:c.18798G>T	XP_011533949.1:p.Lys6266Asn
NM_001347701.1:c.2064G>T	NP_001334630.1:p.Lys688Asn
NM_001347702.1:c.1992G>T	NP_001334631.1:p.Lys664Asn
XM_006715408.2:c.25551G>T	XP_006715471.1:p.Lys8517Asn
XM_006715410.2:c.25563G>T	XP_006715473.1:p.Lys8521Asn
XM_006715412.2:c.25548G>T	XP_006715475.1:p.Lys8516Asn
XM_006715413.2:c.25494G>T	XP_006715476.1:p.Lys8498Asn
XM_006715415.2:c.25494G>T	XP_006715478.1:p.Lys8498Asn
XM_006715416.2:c.25479G>T	XP_006715479.1:p.Lys8493Asn
XM_006715417.2:c.25422G>T	XP_006715480.1:p.Lys8474Asn
XM_006715420.2:c.25410G>T	XP_006715483.1:p.Lys8470Asn
XM_006715421.2:c.25407G>T	XP_006715484.1:p.Lys8469Asn
XM_006715423.2:c.25563G>T	XP_006715486.1:p.Lys8521Asn
XM_006715424.2:c.25563G>T	XP_006715487.1:p.Lys8521Asn
XM_006715425.2:c.25494G>T	XP_006715488.1:p.Lys8498Asn
XM_011535641.2:c.25560G>T	XP_011533943.1:p.Lys8520Asn
XM_011535642.2:c.25548G>T	XP_011533944.1:p.Lys8516Asn
XM_011535645.2:c.23331G>T	XP_011533947.1:p.Lys7777Asn
XM_017010608.1:c.25563G>T	XP_016866097.1:p.Lys8521Asn
XM_017010609.1:c.25563G>T	XP_016866098.1:p.Lys8521Asn
XM_017010610.1:c.25542G>T	XP_016866099.1:p.Lys8514Asn
XM_017010611.2:c.25536G>T	XP_016866100.1:p.Lys8512Asn
XM_017010612.1:c.25485G>T	XP_016866101.1:p.Lys8495Asn
XM_017010613.1:c.25491G>T	XP_016866102.1:p.Lys8497Asn
XM_017010614.1:c.25407G>T	XP_016866103.1:p.Lys8469Asn
XM_017010615.1:c.25338G>T	XP_016866104.1:p.Lys8446Asn
XM_017010616.1:c.25494G>T	XP_016866105.1:p.Lys8498Asn
XM_017010617.1:c.25491G>T	XP_016866106.1:p.Lys8497Asn
XM_017010618.1:c.25479G>T	XP_016866107.1:p.Lys8493Asn
XM_017010619.1:c.23838G>T	XP_016866108.1:p.Lys7946Asn
NM_182961.4:c.25458G>T MANE Select	NP_892006.3:p.Lys8486Asn
NM_001347701.2:c.2064G>T	NP_001334630.1:p.Lys688Asn
NM_001347702.2:c.1992G>T MANE Plus Clinical	NP_001334631.1:p.Lys664Asn
NM_033071.5:c.25314G>T	NP_149062.2:p.Lys8438Asn