Canonical Allele Identifier: CA452969977

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461289A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140154A>T , CM000668.2:g.152140154A>T	GRCh38
NC_000006.11:g.152461289A>T , CM000668.1:g.152461289A>T	GRCh37
NC_000006.10:g.152502982A>T	NCBI36
NG_012855.1:g.502246T>A
NG_012855.2:g.502246T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1788T>A MANE Plus Clinical	ENSP00000346701.4:p.Ile596=
ENST00000367255.10:c.25254T>A MANE Select	ENSP00000356224.5:p.Ile8418=
ENST00000423061.6:c.25110T>A	ENSP00000396024.1:p.Ile8370=
ENST00000672154.1:c.656T>A
ENST00000672169.1:c.989T>A
ENST00000673173.1:c.898T>A
ENST00000673451.1:c.1026T>A	ENSP00000500189.1:p.Ile342=
ENST00000341594.9:c.24039T>A	ENSP00000341887.6:p.Ile8013=
ENST00000347037.9:n.2002T>A
ENST00000354674.4:c.1788T>A	ENSP00000346701.4:p.Ile596=
ENST00000367251.7:c.4089T>A	ENSP00000356220.3:p.Ile1363=
ENST00000367255.9:c.25254T>A	ENSP00000356224.5:p.Ile8418=
ENST00000367256.9:n.8946T>A
ENST00000367257.8:c.3192T>A	ENSP00000356226.4:p.Ile1064=
ENST00000409694.6:n.8838T>A
ENST00000423061.5:c.25110T>A	ENSP00000396024.1:p.Ile8370=
ENST00000460912.6:n.1868T>A
ENST00000478916.5:n.4276T>A
ENST00000536990.5:n.2091T>A
ENST00000539504.5:c.1719T>A	ENSP00000441052.1:p.Ile573=
NM_033071.3:c.25110T>A	NP_149062.1:p.Ile8370=
NM_182961.3:c.25254T>A	NP_892006.3:p.Ile8418=
XM_006715407.1:c.25359T>A	XP_006715470.1:p.Ile8453=
XM_006715408.1:c.25347T>A	XP_006715471.1:p.Ile8449=
XM_006715409.1:c.25338T>A	XP_006715472.1:p.Ile8446=
XM_006715410.1:c.25359T>A	XP_006715473.1:p.Ile8453=
XM_006715411.1:c.25308T>A	XP_006715474.1:p.Ile8436=
XM_006715412.1:c.25344T>A	XP_006715475.1:p.Ile8448=
XM_006715413.1:c.25290T>A	XP_006715476.1:p.Ile8430=
XM_006715414.1:c.25287T>A	XP_006715477.1:p.Ile8429=
XM_006715415.1:c.25290T>A	XP_006715478.1:p.Ile8430=
XM_006715416.1:c.25275T>A	XP_006715479.1:p.Ile8425=
XM_006715417.1:c.25218T>A	XP_006715480.1:p.Ile8406=
XM_006715420.1:c.25206T>A	XP_006715483.1:p.Ile8402=
XM_006715421.1:c.25203T>A	XP_006715484.1:p.Ile8401=
XM_006715422.1:c.25200T>A	XP_006715485.1:p.Ile8400=
XM_006715423.1:c.25359T>A	XP_006715486.1:p.Ile8453=
XM_006715424.1:c.25359T>A	XP_006715487.1:p.Ile8453=
XM_006715425.1:c.25290T>A	XP_006715488.1:p.Ile8430=
XM_011535641.1:c.25356T>A	XP_011533943.1:p.Ile8452=
XM_011535642.1:c.25344T>A	XP_011533944.1:p.Ile8448=
XM_011535643.1:c.25194T>A	XP_011533945.1:p.Ile8398=
XM_011535644.1:c.23634T>A	XP_011533946.1:p.Ile7878=
XM_011535645.1:c.23127T>A	XP_011533947.1:p.Ile7709=
XM_011535647.1:c.18594T>A	XP_011533949.1:p.Ile6198=
NM_001347701.1:c.1860T>A	NP_001334630.1:p.Ile620=
NM_001347702.1:c.1788T>A	NP_001334631.1:p.Ile596=
XM_006715408.2:c.25347T>A	XP_006715471.1:p.Ile8449=
XM_006715410.2:c.25359T>A	XP_006715473.1:p.Ile8453=
XM_006715412.2:c.25344T>A	XP_006715475.1:p.Ile8448=
XM_006715413.2:c.25290T>A	XP_006715476.1:p.Ile8430=
XM_006715415.2:c.25290T>A	XP_006715478.1:p.Ile8430=
XM_006715416.2:c.25275T>A	XP_006715479.1:p.Ile8425=
XM_006715417.2:c.25218T>A	XP_006715480.1:p.Ile8406=
XM_006715420.2:c.25206T>A	XP_006715483.1:p.Ile8402=
XM_006715421.2:c.25203T>A	XP_006715484.1:p.Ile8401=
XM_006715423.2:c.25359T>A	XP_006715486.1:p.Ile8453=
XM_006715424.2:c.25359T>A	XP_006715487.1:p.Ile8453=
XM_006715425.2:c.25290T>A	XP_006715488.1:p.Ile8430=
XM_011535641.2:c.25356T>A	XP_011533943.1:p.Ile8452=
XM_011535642.2:c.25344T>A	XP_011533944.1:p.Ile8448=
XM_011535645.2:c.23127T>A	XP_011533947.1:p.Ile7709=
XM_017010608.1:c.25359T>A	XP_016866097.1:p.Ile8453=
XM_017010609.1:c.25359T>A	XP_016866098.1:p.Ile8453=
XM_017010610.1:c.25338T>A	XP_016866099.1:p.Ile8446=
XM_017010611.2:c.25332T>A	XP_016866100.1:p.Ile8444=
XM_017010612.1:c.25281T>A	XP_016866101.1:p.Ile8427=
XM_017010613.1:c.25287T>A	XP_016866102.1:p.Ile8429=
XM_017010614.1:c.25203T>A	XP_016866103.1:p.Ile8401=
XM_017010615.1:c.25134T>A	XP_016866104.1:p.Ile8378=
XM_017010616.1:c.25290T>A	XP_016866105.1:p.Ile8430=
XM_017010617.1:c.25287T>A	XP_016866106.1:p.Ile8429=
XM_017010618.1:c.25275T>A	XP_016866107.1:p.Ile8425=
XM_017010619.1:c.23634T>A	XP_016866108.1:p.Ile7878=
NM_182961.4:c.25254T>A MANE Select	NP_892006.3:p.Ile8418=
NM_001347701.2:c.1860T>A	NP_001334630.1:p.Ile620=
NM_001347702.2:c.1788T>A MANE Plus Clinical	NP_001334631.1:p.Ile596=
NM_033071.5:c.25110T>A	NP_149062.2:p.Ile8370=