Canonical Allele Identifier: CA452747206

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152464776G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152143641G>A , CM000668.2:g.152143641G>A	GRCh38
NC_000006.11:g.152464776G>A , CM000668.1:g.152464776G>A	GRCh37
NC_000006.10:g.152506469G>A	NCBI36
NG_012855.1:g.498759C>T
NG_012855.2:g.498759C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000354674.5:c.1635C>T MANE Plus Clinical	ENSP00000346701.4:p.Asp545=
ENST00000367255.10:c.25101C>T MANE Select	ENSP00000356224.5:p.Asp8367=
ENST00000423061.6:c.24957C>T	ENSP00000396024.1:p.Asp8319=
ENST00000672154.1:c.503C>T
ENST00000672169.1:c.836C>T
ENST00000673173.1:c.891-3480C>T
ENST00000673451.1:c.873C>T	ENSP00000500189.1:p.Asp291=
ENST00000341594.9:c.23886C>T	ENSP00000341887.6:p.Asp7962=
ENST00000347037.9:n.1849C>T
ENST00000354674.4:c.1635C>T	ENSP00000346701.4:p.Asp545=
ENST00000367251.7:c.3936C>T	ENSP00000356220.3:p.Asp1312=
ENST00000367255.9:c.25101C>T	ENSP00000356224.5:p.Asp8367=
ENST00000367256.9:n.8793C>T
ENST00000367257.8:c.3039C>T	ENSP00000356226.4:p.Asp1013=
ENST00000409694.6:n.8685C>T
ENST00000423061.5:c.24957C>T	ENSP00000396024.1:p.Asp8319=
ENST00000460912.6:n.1715C>T
ENST00000478916.5:n.4123C>T
ENST00000536990.5:n.1938C>T
ENST00000539504.5:c.1566C>T	ENSP00000441052.1:p.Asp522=
NM_033071.3:c.24957C>T	NP_149062.1:p.Asp8319=
NM_182961.3:c.25101C>T	NP_892006.3:p.Asp8367=
XM_006715407.1:c.25206C>T	XP_006715470.1:p.Asp8402=
XM_006715408.1:c.25194C>T	XP_006715471.1:p.Asp8398=
XM_006715409.1:c.25185C>T	XP_006715472.1:p.Asp8395=
XM_006715410.1:c.25206C>T	XP_006715473.1:p.Asp8402=
XM_006715411.1:c.25155C>T	XP_006715474.1:p.Asp8385=
XM_006715412.1:c.25191C>T	XP_006715475.1:p.Asp8397=
XM_006715413.1:c.25137C>T	XP_006715476.1:p.Asp8379=
XM_006715414.1:c.25134C>T	XP_006715477.1:p.Asp8378=
XM_006715415.1:c.25137C>T	XP_006715478.1:p.Asp8379=
XM_006715416.1:c.25122C>T	XP_006715479.1:p.Asp8374=
XM_006715417.1:c.25065C>T	XP_006715480.1:p.Asp8355=
XM_006715420.1:c.25053C>T	XP_006715483.1:p.Asp8351=
XM_006715421.1:c.25050C>T	XP_006715484.1:p.Asp8350=
XM_006715422.1:c.25047C>T	XP_006715485.1:p.Asp8349=
XM_006715423.1:c.25206C>T	XP_006715486.1:p.Asp8402=
XM_006715424.1:c.25206C>T	XP_006715487.1:p.Asp8402=
XM_006715425.1:c.25137C>T	XP_006715488.1:p.Asp8379=
XM_011535641.1:c.25203C>T	XP_011533943.1:p.Asp8401=
XM_011535642.1:c.25191C>T	XP_011533944.1:p.Asp8397=
XM_011535643.1:c.25041C>T	XP_011533945.1:p.Asp8347=
XM_011535644.1:c.23481C>T	XP_011533946.1:p.Asp7827=
XM_011535645.1:c.22974C>T	XP_011533947.1:p.Asp7658=
XM_011535647.1:c.18441C>T	XP_011533949.1:p.Asp6147=
NM_001347701.1:c.1707C>T	NP_001334630.1:p.Asp569=
NM_001347702.1:c.1635C>T	NP_001334631.1:p.Asp545=
XM_006715408.2:c.25194C>T	XP_006715471.1:p.Asp8398=
XM_006715410.2:c.25206C>T	XP_006715473.1:p.Asp8402=
XM_006715412.2:c.25191C>T	XP_006715475.1:p.Asp8397=
XM_006715413.2:c.25137C>T	XP_006715476.1:p.Asp8379=
XM_006715415.2:c.25137C>T	XP_006715478.1:p.Asp8379=
XM_006715416.2:c.25122C>T	XP_006715479.1:p.Asp8374=
XM_006715417.2:c.25065C>T	XP_006715480.1:p.Asp8355=
XM_006715420.2:c.25053C>T	XP_006715483.1:p.Asp8351=
XM_006715421.2:c.25050C>T	XP_006715484.1:p.Asp8350=
XM_006715423.2:c.25206C>T	XP_006715486.1:p.Asp8402=
XM_006715424.2:c.25206C>T	XP_006715487.1:p.Asp8402=
XM_006715425.2:c.25137C>T	XP_006715488.1:p.Asp8379=
XM_011535641.2:c.25203C>T	XP_011533943.1:p.Asp8401=
XM_011535642.2:c.25191C>T	XP_011533944.1:p.Asp8397=
XM_011535645.2:c.22974C>T	XP_011533947.1:p.Asp7658=
XM_017010608.1:c.25206C>T	XP_016866097.1:p.Asp8402=
XM_017010609.1:c.25206C>T	XP_016866098.1:p.Asp8402=
XM_017010610.1:c.25185C>T	XP_016866099.1:p.Asp8395=
XM_017010611.2:c.25179C>T	XP_016866100.1:p.Asp8393=
XM_017010612.1:c.25128C>T	XP_016866101.1:p.Asp8376=
XM_017010613.1:c.25134C>T	XP_016866102.1:p.Asp8378=
XM_017010614.1:c.25050C>T	XP_016866103.1:p.Asp8350=
XM_017010615.1:c.24981C>T	XP_016866104.1:p.Asp8327=
XM_017010616.1:c.25137C>T	XP_016866105.1:p.Asp8379=
XM_017010617.1:c.25134C>T	XP_016866106.1:p.Asp8378=
XM_017010618.1:c.25122C>T	XP_016866107.1:p.Asp8374=
XM_017010619.1:c.23481C>T	XP_016866108.1:p.Asp7827=
NM_182961.4:c.25101C>T MANE Select	NP_892006.3:p.Asp8367=
NM_001347701.2:c.1707C>T	NP_001334630.1:p.Asp569=
NM_001347702.2:c.1635C>T MANE Plus Clinical	NP_001334631.1:p.Asp545=
NM_033071.5:c.24957C>T	NP_149062.2:p.Asp8319=