Canonical Allele Identifier: CA366079916

Gene: SYNE1

Linked Data

• gnomAD v4: 6-152139951-T-C
• MyVariant Identifiers: chr6:g.152461086T>C (hg19) ; chr6:g.152139951T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152139951T>C , CM000668.2:g.152139951T>C	GRCh38
NC_000006.11:g.152461086T>C , CM000668.1:g.152461086T>C	GRCh37
NC_000006.10:g.152502779T>C	NCBI36
NG_012855.1:g.502449A>G
NG_012855.2:g.502449A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1991A>G MANE Plus Clinical	ENSP00000346701.4:p.Lys664Arg
ENST00000367255.10:c.25457A>G MANE Select	ENSP00000356224.5:p.Lys8486Arg
ENST00000423061.6:c.25313A>G	ENSP00000396024.1:p.Lys8438Arg
ENST00000672154.1:c.859A>G
ENST00000672169.1:c.1192A>G
ENST00000673173.1:c.1101A>G
ENST00000673451.1:c.1229A>G	ENSP00000500189.1:p.Lys410Arg
ENST00000341594.9:c.24242A>G	ENSP00000341887.6:p.Lys8081Arg
ENST00000347037.9:n.2205A>G
ENST00000354674.4:c.1991A>G	ENSP00000346701.4:p.Lys664Arg
ENST00000367251.7:c.4292A>G	ENSP00000356220.3:p.Lys1431Arg
ENST00000367255.9:c.25457A>G	ENSP00000356224.5:p.Lys8486Arg
ENST00000367256.9:n.9149A>G
ENST00000367257.8:c.3395A>G	ENSP00000356226.4:p.Lys1132Arg
ENST00000409694.6:n.9041A>G
ENST00000423061.5:c.25313A>G	ENSP00000396024.1:p.Lys8438Arg
ENST00000460912.6:n.2071A>G
ENST00000478916.5:n.4479A>G
ENST00000536990.5:n.2294A>G
ENST00000539504.5:c.1922A>G	ENSP00000441052.1:p.Lys641Arg
NM_033071.3:c.25313A>G	NP_149062.1:p.Lys8438Arg
NM_182961.3:c.25457A>G	NP_892006.3:p.Lys8486Arg
XM_006715407.1:c.25562A>G	XP_006715470.1:p.Lys8521Arg
XM_006715408.1:c.25550A>G	XP_006715471.1:p.Lys8517Arg
XM_006715409.1:c.25541A>G	XP_006715472.1:p.Lys8514Arg
XM_006715410.1:c.25562A>G	XP_006715473.1:p.Lys8521Arg
XM_006715411.1:c.25511A>G	XP_006715474.1:p.Lys8504Arg
XM_006715412.1:c.25547A>G	XP_006715475.1:p.Lys8516Arg
XM_006715413.1:c.25493A>G	XP_006715476.1:p.Lys8498Arg
XM_006715414.1:c.25490A>G	XP_006715477.1:p.Lys8497Arg
XM_006715415.1:c.25493A>G	XP_006715478.1:p.Lys8498Arg
XM_006715416.1:c.25478A>G	XP_006715479.1:p.Lys8493Arg
XM_006715417.1:c.25421A>G	XP_006715480.1:p.Lys8474Arg
XM_006715420.1:c.25409A>G	XP_006715483.1:p.Lys8470Arg
XM_006715421.1:c.25406A>G	XP_006715484.1:p.Lys8469Arg
XM_006715422.1:c.25403A>G	XP_006715485.1:p.Lys8468Arg
XM_006715423.1:c.25562A>G	XP_006715486.1:p.Lys8521Arg
XM_006715424.1:c.25562A>G	XP_006715487.1:p.Lys8521Arg
XM_006715425.1:c.25493A>G	XP_006715488.1:p.Lys8498Arg
XM_011535641.1:c.25559A>G	XP_011533943.1:p.Lys8520Arg
XM_011535642.1:c.25547A>G	XP_011533944.1:p.Lys8516Arg
XM_011535643.1:c.25397A>G	XP_011533945.1:p.Lys8466Arg
XM_011535644.1:c.23837A>G	XP_011533946.1:p.Lys7946Arg
XM_011535645.1:c.23330A>G	XP_011533947.1:p.Lys7777Arg
XM_011535647.1:c.18797A>G	XP_011533949.1:p.Lys6266Arg
NM_001347701.1:c.2063A>G	NP_001334630.1:p.Lys688Arg
NM_001347702.1:c.1991A>G	NP_001334631.1:p.Lys664Arg
XM_006715408.2:c.25550A>G	XP_006715471.1:p.Lys8517Arg
XM_006715410.2:c.25562A>G	XP_006715473.1:p.Lys8521Arg
XM_006715412.2:c.25547A>G	XP_006715475.1:p.Lys8516Arg
XM_006715413.2:c.25493A>G	XP_006715476.1:p.Lys8498Arg
XM_006715415.2:c.25493A>G	XP_006715478.1:p.Lys8498Arg
XM_006715416.2:c.25478A>G	XP_006715479.1:p.Lys8493Arg
XM_006715417.2:c.25421A>G	XP_006715480.1:p.Lys8474Arg
XM_006715420.2:c.25409A>G	XP_006715483.1:p.Lys8470Arg
XM_006715421.2:c.25406A>G	XP_006715484.1:p.Lys8469Arg
XM_006715423.2:c.25562A>G	XP_006715486.1:p.Lys8521Arg
XM_006715424.2:c.25562A>G	XP_006715487.1:p.Lys8521Arg
XM_006715425.2:c.25493A>G	XP_006715488.1:p.Lys8498Arg
XM_011535641.2:c.25559A>G	XP_011533943.1:p.Lys8520Arg
XM_011535642.2:c.25547A>G	XP_011533944.1:p.Lys8516Arg
XM_011535645.2:c.23330A>G	XP_011533947.1:p.Lys7777Arg
XM_017010608.1:c.25562A>G	XP_016866097.1:p.Lys8521Arg
XM_017010609.1:c.25562A>G	XP_016866098.1:p.Lys8521Arg
XM_017010610.1:c.25541A>G	XP_016866099.1:p.Lys8514Arg
XM_017010611.2:c.25535A>G	XP_016866100.1:p.Lys8512Arg
XM_017010612.1:c.25484A>G	XP_016866101.1:p.Lys8495Arg
XM_017010613.1:c.25490A>G	XP_016866102.1:p.Lys8497Arg
XM_017010614.1:c.25406A>G	XP_016866103.1:p.Lys8469Arg
XM_017010615.1:c.25337A>G	XP_016866104.1:p.Lys8446Arg
XM_017010616.1:c.25493A>G	XP_016866105.1:p.Lys8498Arg
XM_017010617.1:c.25490A>G	XP_016866106.1:p.Lys8497Arg
XM_017010618.1:c.25478A>G	XP_016866107.1:p.Lys8493Arg
XM_017010619.1:c.23837A>G	XP_016866108.1:p.Lys7946Arg
NM_182961.4:c.25457A>G MANE Select	NP_892006.3:p.Lys8486Arg
NM_001347701.2:c.2063A>G	NP_001334630.1:p.Lys688Arg
NM_001347702.2:c.1991A>G MANE Plus Clinical	NP_001334631.1:p.Lys664Arg
NM_033071.5:c.25313A>G	NP_149062.2:p.Lys8438Arg