Canonical Allele Identifier: CA366080380

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461193G>T (hg19) ; chr6:g.152140058G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140058G>T , CM000668.2:g.152140058G>T	GRCh38
NC_000006.11:g.152461193G>T , CM000668.1:g.152461193G>T	GRCh37
NC_000006.10:g.152502886G>T	NCBI36
NG_012855.1:g.502342C>A
NG_012855.2:g.502342C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1884C>A MANE Plus Clinical	ENSP00000346701.4:p.Asn628Lys
ENST00000367255.10:c.25350C>A MANE Select	ENSP00000356224.5:p.Asn8450Lys
ENST00000423061.6:c.25206C>A	ENSP00000396024.1:p.Asn8402Lys
ENST00000672154.1:c.752C>A
ENST00000672169.1:c.1085C>A
ENST00000673173.1:c.994C>A
ENST00000673451.1:c.1122C>A	ENSP00000500189.1:p.Asn374Lys
ENST00000341594.9:c.24135C>A	ENSP00000341887.6:p.Asn8045Lys
ENST00000347037.9:n.2098C>A
ENST00000354674.4:c.1884C>A	ENSP00000346701.4:p.Asn628Lys
ENST00000367251.7:c.4185C>A	ENSP00000356220.3:p.Asn1395Lys
ENST00000367255.9:c.25350C>A	ENSP00000356224.5:p.Asn8450Lys
ENST00000367256.9:n.9042C>A
ENST00000367257.8:c.3288C>A	ENSP00000356226.4:p.Asn1096Lys
ENST00000409694.6:n.8934C>A
ENST00000423061.5:c.25206C>A	ENSP00000396024.1:p.Asn8402Lys
ENST00000460912.6:n.1964C>A
ENST00000478916.5:n.4372C>A
ENST00000536990.5:n.2187C>A
ENST00000539504.5:c.1815C>A	ENSP00000441052.1:p.Asn605Lys
NM_033071.3:c.25206C>A	NP_149062.1:p.Asn8402Lys
NM_182961.3:c.25350C>A	NP_892006.3:p.Asn8450Lys
XM_006715407.1:c.25455C>A	XP_006715470.1:p.Asn8485Lys
XM_006715408.1:c.25443C>A	XP_006715471.1:p.Asn8481Lys
XM_006715409.1:c.25434C>A	XP_006715472.1:p.Asn8478Lys
XM_006715410.1:c.25455C>A	XP_006715473.1:p.Asn8485Lys
XM_006715411.1:c.25404C>A	XP_006715474.1:p.Asn8468Lys
XM_006715412.1:c.25440C>A	XP_006715475.1:p.Asn8480Lys
XM_006715413.1:c.25386C>A	XP_006715476.1:p.Asn8462Lys
XM_006715414.1:c.25383C>A	XP_006715477.1:p.Asn8461Lys
XM_006715415.1:c.25386C>A	XP_006715478.1:p.Asn8462Lys
XM_006715416.1:c.25371C>A	XP_006715479.1:p.Asn8457Lys
XM_006715417.1:c.25314C>A	XP_006715480.1:p.Asn8438Lys
XM_006715420.1:c.25302C>A	XP_006715483.1:p.Asn8434Lys
XM_006715421.1:c.25299C>A	XP_006715484.1:p.Asn8433Lys
XM_006715422.1:c.25296C>A	XP_006715485.1:p.Asn8432Lys
XM_006715423.1:c.25455C>A	XP_006715486.1:p.Asn8485Lys
XM_006715424.1:c.25455C>A	XP_006715487.1:p.Asn8485Lys
XM_006715425.1:c.25386C>A	XP_006715488.1:p.Asn8462Lys
XM_011535641.1:c.25452C>A	XP_011533943.1:p.Asn8484Lys
XM_011535642.1:c.25440C>A	XP_011533944.1:p.Asn8480Lys
XM_011535643.1:c.25290C>A	XP_011533945.1:p.Asn8430Lys
XM_011535644.1:c.23730C>A	XP_011533946.1:p.Asn7910Lys
XM_011535645.1:c.23223C>A	XP_011533947.1:p.Asn7741Lys
XM_011535647.1:c.18690C>A	XP_011533949.1:p.Asn6230Lys
NM_001347701.1:c.1956C>A	NP_001334630.1:p.Asn652Lys
NM_001347702.1:c.1884C>A	NP_001334631.1:p.Asn628Lys
XM_006715408.2:c.25443C>A	XP_006715471.1:p.Asn8481Lys
XM_006715410.2:c.25455C>A	XP_006715473.1:p.Asn8485Lys
XM_006715412.2:c.25440C>A	XP_006715475.1:p.Asn8480Lys
XM_006715413.2:c.25386C>A	XP_006715476.1:p.Asn8462Lys
XM_006715415.2:c.25386C>A	XP_006715478.1:p.Asn8462Lys
XM_006715416.2:c.25371C>A	XP_006715479.1:p.Asn8457Lys
XM_006715417.2:c.25314C>A	XP_006715480.1:p.Asn8438Lys
XM_006715420.2:c.25302C>A	XP_006715483.1:p.Asn8434Lys
XM_006715421.2:c.25299C>A	XP_006715484.1:p.Asn8433Lys
XM_006715423.2:c.25455C>A	XP_006715486.1:p.Asn8485Lys
XM_006715424.2:c.25455C>A	XP_006715487.1:p.Asn8485Lys
XM_006715425.2:c.25386C>A	XP_006715488.1:p.Asn8462Lys
XM_011535641.2:c.25452C>A	XP_011533943.1:p.Asn8484Lys
XM_011535642.2:c.25440C>A	XP_011533944.1:p.Asn8480Lys
XM_011535645.2:c.23223C>A	XP_011533947.1:p.Asn7741Lys
XM_017010608.1:c.25455C>A	XP_016866097.1:p.Asn8485Lys
XM_017010609.1:c.25455C>A	XP_016866098.1:p.Asn8485Lys
XM_017010610.1:c.25434C>A	XP_016866099.1:p.Asn8478Lys
XM_017010611.2:c.25428C>A	XP_016866100.1:p.Asn8476Lys
XM_017010612.1:c.25377C>A	XP_016866101.1:p.Asn8459Lys
XM_017010613.1:c.25383C>A	XP_016866102.1:p.Asn8461Lys
XM_017010614.1:c.25299C>A	XP_016866103.1:p.Asn8433Lys
XM_017010615.1:c.25230C>A	XP_016866104.1:p.Asn8410Lys
XM_017010616.1:c.25386C>A	XP_016866105.1:p.Asn8462Lys
XM_017010617.1:c.25383C>A	XP_016866106.1:p.Asn8461Lys
XM_017010618.1:c.25371C>A	XP_016866107.1:p.Asn8457Lys
XM_017010619.1:c.23730C>A	XP_016866108.1:p.Asn7910Lys
NM_182961.4:c.25350C>A MANE Select	NP_892006.3:p.Asn8450Lys
NM_001347701.2:c.1956C>A	NP_001334630.1:p.Asn652Lys
NM_001347702.2:c.1884C>A MANE Plus Clinical	NP_001334631.1:p.Asn628Lys
NM_033071.5:c.25206C>A	NP_149062.2:p.Asn8402Lys