Canonical Allele Identifier: CA452747209
Gene: SYNE1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.152464779T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152143644T>A , CM000668.2:g.152143644T>A GRCh38
NC_000006.11:g.152464779T>A , CM000668.1:g.152464779T>A GRCh37
NC_000006.10:g.152506472T>A NCBI36
NG_012855.1:g.498756A>T
NG_012855.2:g.498756A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000354674.5:c.1632A>T MANE Plus Clinical ENSP00000346701.4:p.Leu544=
ENST00000367255.10:c.25098A>T MANE Select ENSP00000356224.5:p.Leu8366=
ENST00000423061.6:c.24954A>T ENSP00000396024.1:p.Leu8318=
ENST00000672154.1:c.500A>T
ENST00000672169.1:c.833A>T
ENST00000673173.1:c.891-3483A>T
ENST00000673451.1:c.870A>T ENSP00000500189.1:p.Leu290=
ENST00000341594.9:c.23883A>T ENSP00000341887.6:p.Leu7961=
ENST00000347037.9:n.1846A>T
ENST00000354674.4:c.1632A>T ENSP00000346701.4:p.Leu544=
ENST00000367251.7:c.3933A>T ENSP00000356220.3:p.Leu1311=
ENST00000367255.9:c.25098A>T ENSP00000356224.5:p.Leu8366=
ENST00000367256.9:n.8790A>T
ENST00000367257.8:c.3036A>T ENSP00000356226.4:p.Leu1012=
ENST00000409694.6:n.8682A>T
ENST00000423061.5:c.24954A>T ENSP00000396024.1:p.Leu8318=
ENST00000460912.6:n.1712A>T
ENST00000478916.5:n.4120A>T
ENST00000536990.5:n.1935A>T
ENST00000539504.5:c.1563A>T ENSP00000441052.1:p.Leu521=
NM_033071.3:c.24954A>T NP_149062.1:p.Leu8318=
NM_182961.3:c.25098A>T NP_892006.3:p.Leu8366=
XM_006715407.1:c.25203A>T XP_006715470.1:p.Leu8401=
XM_006715408.1:c.25191A>T XP_006715471.1:p.Leu8397=
XM_006715409.1:c.25182A>T XP_006715472.1:p.Leu8394=
XM_006715410.1:c.25203A>T XP_006715473.1:p.Leu8401=
XM_006715411.1:c.25152A>T XP_006715474.1:p.Leu8384=
XM_006715412.1:c.25188A>T XP_006715475.1:p.Leu8396=
XM_006715413.1:c.25134A>T XP_006715476.1:p.Leu8378=
XM_006715414.1:c.25131A>T XP_006715477.1:p.Leu8377=
XM_006715415.1:c.25134A>T XP_006715478.1:p.Leu8378=
XM_006715416.1:c.25119A>T XP_006715479.1:p.Leu8373=
XM_006715417.1:c.25062A>T XP_006715480.1:p.Leu8354=
XM_006715420.1:c.25050A>T XP_006715483.1:p.Leu8350=
XM_006715421.1:c.25047A>T XP_006715484.1:p.Leu8349=
XM_006715422.1:c.25044A>T XP_006715485.1:p.Leu8348=
XM_006715423.1:c.25203A>T XP_006715486.1:p.Leu8401=
XM_006715424.1:c.25203A>T XP_006715487.1:p.Leu8401=
XM_006715425.1:c.25134A>T XP_006715488.1:p.Leu8378=
XM_011535641.1:c.25200A>T XP_011533943.1:p.Leu8400=
XM_011535642.1:c.25188A>T XP_011533944.1:p.Leu8396=
XM_011535643.1:c.25038A>T XP_011533945.1:p.Leu8346=
XM_011535644.1:c.23478A>T XP_011533946.1:p.Leu7826=
XM_011535645.1:c.22971A>T XP_011533947.1:p.Leu7657=
XM_011535647.1:c.18438A>T XP_011533949.1:p.Leu6146=
NM_001347701.1:c.1704A>T NP_001334630.1:p.Leu568=
NM_001347702.1:c.1632A>T NP_001334631.1:p.Leu544=
XM_006715408.2:c.25191A>T XP_006715471.1:p.Leu8397=
XM_006715410.2:c.25203A>T XP_006715473.1:p.Leu8401=
XM_006715412.2:c.25188A>T XP_006715475.1:p.Leu8396=
XM_006715413.2:c.25134A>T XP_006715476.1:p.Leu8378=
XM_006715415.2:c.25134A>T XP_006715478.1:p.Leu8378=
XM_006715416.2:c.25119A>T XP_006715479.1:p.Leu8373=
XM_006715417.2:c.25062A>T XP_006715480.1:p.Leu8354=
XM_006715420.2:c.25050A>T XP_006715483.1:p.Leu8350=
XM_006715421.2:c.25047A>T XP_006715484.1:p.Leu8349=
XM_006715423.2:c.25203A>T XP_006715486.1:p.Leu8401=
XM_006715424.2:c.25203A>T XP_006715487.1:p.Leu8401=
XM_006715425.2:c.25134A>T XP_006715488.1:p.Leu8378=
XM_011535641.2:c.25200A>T XP_011533943.1:p.Leu8400=
XM_011535642.2:c.25188A>T XP_011533944.1:p.Leu8396=
XM_011535645.2:c.22971A>T XP_011533947.1:p.Leu7657=
XM_017010608.1:c.25203A>T XP_016866097.1:p.Leu8401=
XM_017010609.1:c.25203A>T XP_016866098.1:p.Leu8401=
XM_017010610.1:c.25182A>T XP_016866099.1:p.Leu8394=
XM_017010611.2:c.25176A>T XP_016866100.1:p.Leu8392=
XM_017010612.1:c.25125A>T XP_016866101.1:p.Leu8375=
XM_017010613.1:c.25131A>T XP_016866102.1:p.Leu8377=
XM_017010614.1:c.25047A>T XP_016866103.1:p.Leu8349=
XM_017010615.1:c.24978A>T XP_016866104.1:p.Leu8326=
XM_017010616.1:c.25134A>T XP_016866105.1:p.Leu8378=
XM_017010617.1:c.25131A>T XP_016866106.1:p.Leu8377=
XM_017010618.1:c.25119A>T XP_016866107.1:p.Leu8373=
XM_017010619.1:c.23478A>T XP_016866108.1:p.Leu7826=
NM_182961.4:c.25098A>T MANE Select NP_892006.3:p.Leu8366=
NM_001347701.2:c.1704A>T NP_001334630.1:p.Leu568=
NM_001347702.2:c.1632A>T MANE Plus Clinical NP_001334631.1:p.Leu544=
NM_033071.5:c.24954A>T NP_149062.2:p.Leu8318=