Canonical Allele Identifier: CA452747270

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152464872G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152143737G>T , CM000668.2:g.152143737G>T	GRCh38
NC_000006.11:g.152464872G>T , CM000668.1:g.152464872G>T	GRCh37
NC_000006.10:g.152506565G>T	NCBI36
NG_012855.1:g.498663C>A
NG_012855.2:g.498663C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1539C>A MANE Plus Clinical	ENSP00000346701.4:p.Ile513=
ENST00000367255.10:c.25005C>A MANE Select	ENSP00000356224.5:p.Ile8335=
ENST00000423061.6:c.24861C>A	ENSP00000396024.1:p.Ile8287=
ENST00000672154.1:c.407C>A
ENST00000672169.1:c.740C>A
ENST00000673173.1:c.891-3576C>A
ENST00000673451.1:c.777C>A	ENSP00000500189.1:p.Ile259=
ENST00000341594.9:c.23790C>A	ENSP00000341887.6:p.Ile7930=
ENST00000347037.9:n.1753C>A
ENST00000354674.4:c.1539C>A	ENSP00000346701.4:p.Ile513=
ENST00000367251.7:c.3840C>A	ENSP00000356220.3:p.Ile1280=
ENST00000367255.9:c.25005C>A	ENSP00000356224.5:p.Ile8335=
ENST00000367256.9:n.8697C>A
ENST00000367257.8:c.2943C>A	ENSP00000356226.4:p.Ile981=
ENST00000409694.6:n.8589C>A
ENST00000423061.5:c.24861C>A	ENSP00000396024.1:p.Ile8287=
ENST00000460912.6:n.1619C>A
ENST00000478916.5:n.4027C>A
ENST00000536990.5:n.1842C>A
ENST00000539504.5:c.1470C>A	ENSP00000441052.1:p.Ile490=
NM_033071.3:c.24861C>A	NP_149062.1:p.Ile8287=
NM_182961.3:c.25005C>A	NP_892006.3:p.Ile8335=
XM_006715407.1:c.25110C>A	XP_006715470.1:p.Ile8370=
XM_006715408.1:c.25098C>A	XP_006715471.1:p.Ile8366=
XM_006715409.1:c.25089C>A	XP_006715472.1:p.Ile8363=
XM_006715410.1:c.25110C>A	XP_006715473.1:p.Ile8370=
XM_006715411.1:c.25059C>A	XP_006715474.1:p.Ile8353=
XM_006715412.1:c.25095C>A	XP_006715475.1:p.Ile8365=
XM_006715413.1:c.25041C>A	XP_006715476.1:p.Ile8347=
XM_006715414.1:c.25038C>A	XP_006715477.1:p.Ile8346=
XM_006715415.1:c.25041C>A	XP_006715478.1:p.Ile8347=
XM_006715416.1:c.25026C>A	XP_006715479.1:p.Ile8342=
XM_006715417.1:c.24969C>A	XP_006715480.1:p.Ile8323=
XM_006715420.1:c.24957C>A	XP_006715483.1:p.Ile8319=
XM_006715421.1:c.24954C>A	XP_006715484.1:p.Ile8318=
XM_006715422.1:c.24951C>A	XP_006715485.1:p.Ile8317=
XM_006715423.1:c.25110C>A	XP_006715486.1:p.Ile8370=
XM_006715424.1:c.25110C>A	XP_006715487.1:p.Ile8370=
XM_006715425.1:c.25041C>A	XP_006715488.1:p.Ile8347=
XM_011535641.1:c.25107C>A	XP_011533943.1:p.Ile8369=
XM_011535642.1:c.25095C>A	XP_011533944.1:p.Ile8365=
XM_011535643.1:c.24945C>A	XP_011533945.1:p.Ile8315=
XM_011535644.1:c.23385C>A	XP_011533946.1:p.Ile7795=
XM_011535645.1:c.22878C>A	XP_011533947.1:p.Ile7626=
XM_011535647.1:c.18345C>A	XP_011533949.1:p.Ile6115=
NM_001347701.1:c.1611C>A	NP_001334630.1:p.Ile537=
NM_001347702.1:c.1539C>A	NP_001334631.1:p.Ile513=
XM_006715408.2:c.25098C>A	XP_006715471.1:p.Ile8366=
XM_006715410.2:c.25110C>A	XP_006715473.1:p.Ile8370=
XM_006715412.2:c.25095C>A	XP_006715475.1:p.Ile8365=
XM_006715413.2:c.25041C>A	XP_006715476.1:p.Ile8347=
XM_006715415.2:c.25041C>A	XP_006715478.1:p.Ile8347=
XM_006715416.2:c.25026C>A	XP_006715479.1:p.Ile8342=
XM_006715417.2:c.24969C>A	XP_006715480.1:p.Ile8323=
XM_006715420.2:c.24957C>A	XP_006715483.1:p.Ile8319=
XM_006715421.2:c.24954C>A	XP_006715484.1:p.Ile8318=
XM_006715423.2:c.25110C>A	XP_006715486.1:p.Ile8370=
XM_006715424.2:c.25110C>A	XP_006715487.1:p.Ile8370=
XM_006715425.2:c.25041C>A	XP_006715488.1:p.Ile8347=
XM_011535641.2:c.25107C>A	XP_011533943.1:p.Ile8369=
XM_011535642.2:c.25095C>A	XP_011533944.1:p.Ile8365=
XM_011535645.2:c.22878C>A	XP_011533947.1:p.Ile7626=
XM_017010608.1:c.25110C>A	XP_016866097.1:p.Ile8370=
XM_017010609.1:c.25110C>A	XP_016866098.1:p.Ile8370=
XM_017010610.1:c.25089C>A	XP_016866099.1:p.Ile8363=
XM_017010611.2:c.25083C>A	XP_016866100.1:p.Ile8361=
XM_017010612.1:c.25032C>A	XP_016866101.1:p.Ile8344=
XM_017010613.1:c.25038C>A	XP_016866102.1:p.Ile8346=
XM_017010614.1:c.24954C>A	XP_016866103.1:p.Ile8318=
XM_017010615.1:c.24885C>A	XP_016866104.1:p.Ile8295=
XM_017010616.1:c.25041C>A	XP_016866105.1:p.Ile8347=
XM_017010617.1:c.25038C>A	XP_016866106.1:p.Ile8346=
XM_017010618.1:c.25026C>A	XP_016866107.1:p.Ile8342=
XM_017010619.1:c.23385C>A	XP_016866108.1:p.Ile7795=
NM_182961.4:c.25005C>A MANE Select	NP_892006.3:p.Ile8335=
NM_001347701.2:c.1611C>A	NP_001334630.1:p.Ile537=
NM_001347702.2:c.1539C>A MANE Plus Clinical	NP_001334631.1:p.Ile513=
NM_033071.5:c.24861C>A	NP_149062.2:p.Ile8287=