Canonical Allele Identifier: CA366080739

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461242C>A (hg19) ; chr6:g.152140107C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140107C>A , CM000668.2:g.152140107C>A	GRCh38
NC_000006.11:g.152461242C>A , CM000668.1:g.152461242C>A	GRCh37
NC_000006.10:g.152502935C>A	NCBI36
NG_012855.1:g.502293G>T
NG_012855.2:g.502293G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1835G>T MANE Plus Clinical	ENSP00000346701.4:p.Arg612Met
ENST00000367255.10:c.25301G>T MANE Select	ENSP00000356224.5:p.Arg8434Met
ENST00000423061.6:c.25157G>T	ENSP00000396024.1:p.Arg8386Met
ENST00000672154.1:c.703G>T
ENST00000672169.1:c.1036G>T
ENST00000673173.1:c.945G>T
ENST00000673451.1:c.1073G>T	ENSP00000500189.1:p.Arg358Met
ENST00000341594.9:c.24086G>T	ENSP00000341887.6:p.Arg8029Met
ENST00000347037.9:n.2049G>T
ENST00000354674.4:c.1835G>T	ENSP00000346701.4:p.Arg612Met
ENST00000367251.7:c.4136G>T	ENSP00000356220.3:p.Arg1379Met
ENST00000367255.9:c.25301G>T	ENSP00000356224.5:p.Arg8434Met
ENST00000367256.9:n.8993G>T
ENST00000367257.8:c.3239G>T	ENSP00000356226.4:p.Arg1080Met
ENST00000409694.6:n.8885G>T
ENST00000423061.5:c.25157G>T	ENSP00000396024.1:p.Arg8386Met
ENST00000460912.6:n.1915G>T
ENST00000478916.5:n.4323G>T
ENST00000536990.5:n.2138G>T
ENST00000539504.5:c.1766G>T	ENSP00000441052.1:p.Arg589Met
NM_033071.3:c.25157G>T	NP_149062.1:p.Arg8386Met
NM_182961.3:c.25301G>T	NP_892006.3:p.Arg8434Met
XM_006715407.1:c.25406G>T	XP_006715470.1:p.Arg8469Met
XM_006715408.1:c.25394G>T	XP_006715471.1:p.Arg8465Met
XM_006715409.1:c.25385G>T	XP_006715472.1:p.Arg8462Met
XM_006715410.1:c.25406G>T	XP_006715473.1:p.Arg8469Met
XM_006715411.1:c.25355G>T	XP_006715474.1:p.Arg8452Met
XM_006715412.1:c.25391G>T	XP_006715475.1:p.Arg8464Met
XM_006715413.1:c.25337G>T	XP_006715476.1:p.Arg8446Met
XM_006715414.1:c.25334G>T	XP_006715477.1:p.Arg8445Met
XM_006715415.1:c.25337G>T	XP_006715478.1:p.Arg8446Met
XM_006715416.1:c.25322G>T	XP_006715479.1:p.Arg8441Met
XM_006715417.1:c.25265G>T	XP_006715480.1:p.Arg8422Met
XM_006715420.1:c.25253G>T	XP_006715483.1:p.Arg8418Met
XM_006715421.1:c.25250G>T	XP_006715484.1:p.Arg8417Met
XM_006715422.1:c.25247G>T	XP_006715485.1:p.Arg8416Met
XM_006715423.1:c.25406G>T	XP_006715486.1:p.Arg8469Met
XM_006715424.1:c.25406G>T	XP_006715487.1:p.Arg8469Met
XM_006715425.1:c.25337G>T	XP_006715488.1:p.Arg8446Met
XM_011535641.1:c.25403G>T	XP_011533943.1:p.Arg8468Met
XM_011535642.1:c.25391G>T	XP_011533944.1:p.Arg8464Met
XM_011535643.1:c.25241G>T	XP_011533945.1:p.Arg8414Met
XM_011535644.1:c.23681G>T	XP_011533946.1:p.Arg7894Met
XM_011535645.1:c.23174G>T	XP_011533947.1:p.Arg7725Met
XM_011535647.1:c.18641G>T	XP_011533949.1:p.Arg6214Met
NM_001347701.1:c.1907G>T	NP_001334630.1:p.Arg636Met
NM_001347702.1:c.1835G>T	NP_001334631.1:p.Arg612Met
XM_006715408.2:c.25394G>T	XP_006715471.1:p.Arg8465Met
XM_006715410.2:c.25406G>T	XP_006715473.1:p.Arg8469Met
XM_006715412.2:c.25391G>T	XP_006715475.1:p.Arg8464Met
XM_006715413.2:c.25337G>T	XP_006715476.1:p.Arg8446Met
XM_006715415.2:c.25337G>T	XP_006715478.1:p.Arg8446Met
XM_006715416.2:c.25322G>T	XP_006715479.1:p.Arg8441Met
XM_006715417.2:c.25265G>T	XP_006715480.1:p.Arg8422Met
XM_006715420.2:c.25253G>T	XP_006715483.1:p.Arg8418Met
XM_006715421.2:c.25250G>T	XP_006715484.1:p.Arg8417Met
XM_006715423.2:c.25406G>T	XP_006715486.1:p.Arg8469Met
XM_006715424.2:c.25406G>T	XP_006715487.1:p.Arg8469Met
XM_006715425.2:c.25337G>T	XP_006715488.1:p.Arg8446Met
XM_011535641.2:c.25403G>T	XP_011533943.1:p.Arg8468Met
XM_011535642.2:c.25391G>T	XP_011533944.1:p.Arg8464Met
XM_011535645.2:c.23174G>T	XP_011533947.1:p.Arg7725Met
XM_017010608.1:c.25406G>T	XP_016866097.1:p.Arg8469Met
XM_017010609.1:c.25406G>T	XP_016866098.1:p.Arg8469Met
XM_017010610.1:c.25385G>T	XP_016866099.1:p.Arg8462Met
XM_017010611.2:c.25379G>T	XP_016866100.1:p.Arg8460Met
XM_017010612.1:c.25328G>T	XP_016866101.1:p.Arg8443Met
XM_017010613.1:c.25334G>T	XP_016866102.1:p.Arg8445Met
XM_017010614.1:c.25250G>T	XP_016866103.1:p.Arg8417Met
XM_017010615.1:c.25181G>T	XP_016866104.1:p.Arg8394Met
XM_017010616.1:c.25337G>T	XP_016866105.1:p.Arg8446Met
XM_017010617.1:c.25334G>T	XP_016866106.1:p.Arg8445Met
XM_017010618.1:c.25322G>T	XP_016866107.1:p.Arg8441Met
XM_017010619.1:c.23681G>T	XP_016866108.1:p.Arg7894Met
NM_182961.4:c.25301G>T MANE Select	NP_892006.3:p.Arg8434Met
NM_001347701.2:c.1907G>T	NP_001334630.1:p.Arg636Met
NM_001347702.2:c.1835G>T MANE Plus Clinical	NP_001334631.1:p.Arg612Met
NM_033071.5:c.25157G>T	NP_149062.2:p.Arg8386Met