Canonical Allele Identifier: CA366083274

Gene: SYNE1

Linked Data

• gnomAD v4: 6-152143736-G-C
• MyVariant Identifiers: chr6:g.152464871G>C (hg19) ; chr6:g.152143736G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152143736G>C , CM000668.2:g.152143736G>C	GRCh38
NC_000006.11:g.152464871G>C , CM000668.1:g.152464871G>C	GRCh37
NC_000006.10:g.152506564G>C	NCBI36
NG_012855.1:g.498664C>G
NG_012855.2:g.498664C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1540C>G MANE Plus Clinical	ENSP00000346701.4:p.Arg514Gly
ENST00000367255.10:c.25006C>G MANE Select	ENSP00000356224.5:p.Arg8336Gly
ENST00000423061.6:c.24862C>G	ENSP00000396024.1:p.Arg8288Gly
ENST00000672154.1:c.408C>G
ENST00000672169.1:c.741C>G
ENST00000673173.1:c.891-3575C>G
ENST00000673451.1:c.778C>G	ENSP00000500189.1:p.Arg260Gly
ENST00000341594.9:c.23791C>G	ENSP00000341887.6:p.Arg7931Gly
ENST00000347037.9:n.1754C>G
ENST00000354674.4:c.1540C>G	ENSP00000346701.4:p.Arg514Gly
ENST00000367251.7:c.3841C>G	ENSP00000356220.3:p.Arg1281Gly
ENST00000367255.9:c.25006C>G	ENSP00000356224.5:p.Arg8336Gly
ENST00000367256.9:n.8698C>G
ENST00000367257.8:c.2944C>G	ENSP00000356226.4:p.Arg982Gly
ENST00000409694.6:n.8590C>G
ENST00000423061.5:c.24862C>G	ENSP00000396024.1:p.Arg8288Gly
ENST00000460912.6:n.1620C>G
ENST00000478916.5:n.4028C>G
ENST00000536990.5:n.1843C>G
ENST00000539504.5:c.1471C>G	ENSP00000441052.1:p.Arg491Gly
NM_033071.3:c.24862C>G	NP_149062.1:p.Arg8288Gly
NM_182961.3:c.25006C>G	NP_892006.3:p.Arg8336Gly
XM_006715407.1:c.25111C>G	XP_006715470.1:p.Arg8371Gly
XM_006715408.1:c.25099C>G	XP_006715471.1:p.Arg8367Gly
XM_006715409.1:c.25090C>G	XP_006715472.1:p.Arg8364Gly
XM_006715410.1:c.25111C>G	XP_006715473.1:p.Arg8371Gly
XM_006715411.1:c.25060C>G	XP_006715474.1:p.Arg8354Gly
XM_006715412.1:c.25096C>G	XP_006715475.1:p.Arg8366Gly
XM_006715413.1:c.25042C>G	XP_006715476.1:p.Arg8348Gly
XM_006715414.1:c.25039C>G	XP_006715477.1:p.Arg8347Gly
XM_006715415.1:c.25042C>G	XP_006715478.1:p.Arg8348Gly
XM_006715416.1:c.25027C>G	XP_006715479.1:p.Arg8343Gly
XM_006715417.1:c.24970C>G	XP_006715480.1:p.Arg8324Gly
XM_006715420.1:c.24958C>G	XP_006715483.1:p.Arg8320Gly
XM_006715421.1:c.24955C>G	XP_006715484.1:p.Arg8319Gly
XM_006715422.1:c.24952C>G	XP_006715485.1:p.Arg8318Gly
XM_006715423.1:c.25111C>G	XP_006715486.1:p.Arg8371Gly
XM_006715424.1:c.25111C>G	XP_006715487.1:p.Arg8371Gly
XM_006715425.1:c.25042C>G	XP_006715488.1:p.Arg8348Gly
XM_011535641.1:c.25108C>G	XP_011533943.1:p.Arg8370Gly
XM_011535642.1:c.25096C>G	XP_011533944.1:p.Arg8366Gly
XM_011535643.1:c.24946C>G	XP_011533945.1:p.Arg8316Gly
XM_011535644.1:c.23386C>G	XP_011533946.1:p.Arg7796Gly
XM_011535645.1:c.22879C>G	XP_011533947.1:p.Arg7627Gly
XM_011535647.1:c.18346C>G	XP_011533949.1:p.Arg6116Gly
NM_001347701.1:c.1612C>G	NP_001334630.1:p.Arg538Gly
NM_001347702.1:c.1540C>G	NP_001334631.1:p.Arg514Gly
XM_006715408.2:c.25099C>G	XP_006715471.1:p.Arg8367Gly
XM_006715410.2:c.25111C>G	XP_006715473.1:p.Arg8371Gly
XM_006715412.2:c.25096C>G	XP_006715475.1:p.Arg8366Gly
XM_006715413.2:c.25042C>G	XP_006715476.1:p.Arg8348Gly
XM_006715415.2:c.25042C>G	XP_006715478.1:p.Arg8348Gly
XM_006715416.2:c.25027C>G	XP_006715479.1:p.Arg8343Gly
XM_006715417.2:c.24970C>G	XP_006715480.1:p.Arg8324Gly
XM_006715420.2:c.24958C>G	XP_006715483.1:p.Arg8320Gly
XM_006715421.2:c.24955C>G	XP_006715484.1:p.Arg8319Gly
XM_006715423.2:c.25111C>G	XP_006715486.1:p.Arg8371Gly
XM_006715424.2:c.25111C>G	XP_006715487.1:p.Arg8371Gly
XM_006715425.2:c.25042C>G	XP_006715488.1:p.Arg8348Gly
XM_011535641.2:c.25108C>G	XP_011533943.1:p.Arg8370Gly
XM_011535642.2:c.25096C>G	XP_011533944.1:p.Arg8366Gly
XM_011535645.2:c.22879C>G	XP_011533947.1:p.Arg7627Gly
XM_017010608.1:c.25111C>G	XP_016866097.1:p.Arg8371Gly
XM_017010609.1:c.25111C>G	XP_016866098.1:p.Arg8371Gly
XM_017010610.1:c.25090C>G	XP_016866099.1:p.Arg8364Gly
XM_017010611.2:c.25084C>G	XP_016866100.1:p.Arg8362Gly
XM_017010612.1:c.25033C>G	XP_016866101.1:p.Arg8345Gly
XM_017010613.1:c.25039C>G	XP_016866102.1:p.Arg8347Gly
XM_017010614.1:c.24955C>G	XP_016866103.1:p.Arg8319Gly
XM_017010615.1:c.24886C>G	XP_016866104.1:p.Arg8296Gly
XM_017010616.1:c.25042C>G	XP_016866105.1:p.Arg8348Gly
XM_017010617.1:c.25039C>G	XP_016866106.1:p.Arg8347Gly
XM_017010618.1:c.25027C>G	XP_016866107.1:p.Arg8343Gly
XM_017010619.1:c.23386C>G	XP_016866108.1:p.Arg7796Gly
NM_182961.4:c.25006C>G MANE Select	NP_892006.3:p.Arg8336Gly
NM_001347701.2:c.1612C>G	NP_001334630.1:p.Arg538Gly
NM_001347702.2:c.1540C>G MANE Plus Clinical	NP_001334631.1:p.Arg514Gly
NM_033071.5:c.24862C>G	NP_149062.2:p.Arg8288Gly