Canonical Allele Identifier: CA366080404

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461197A>C (hg19) ; chr6:g.152140062A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140062A>C , CM000668.2:g.152140062A>C	GRCh38
NC_000006.11:g.152461197A>C , CM000668.1:g.152461197A>C	GRCh37
NC_000006.10:g.152502890A>C	NCBI36
NG_012855.1:g.502338T>G
NG_012855.2:g.502338T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1880T>G MANE Plus Clinical	ENSP00000346701.4:p.Leu627Trp
ENST00000367255.10:c.25346T>G MANE Select	ENSP00000356224.5:p.Leu8449Trp
ENST00000423061.6:c.25202T>G	ENSP00000396024.1:p.Leu8401Trp
ENST00000672154.1:c.748T>G
ENST00000672169.1:c.1081T>G
ENST00000673173.1:c.990T>G
ENST00000673451.1:c.1118T>G	ENSP00000500189.1:p.Leu373Trp
ENST00000341594.9:c.24131T>G	ENSP00000341887.6:p.Leu8044Trp
ENST00000347037.9:n.2094T>G
ENST00000354674.4:c.1880T>G	ENSP00000346701.4:p.Leu627Trp
ENST00000367251.7:c.4181T>G	ENSP00000356220.3:p.Leu1394Trp
ENST00000367255.9:c.25346T>G	ENSP00000356224.5:p.Leu8449Trp
ENST00000367256.9:n.9038T>G
ENST00000367257.8:c.3284T>G	ENSP00000356226.4:p.Leu1095Trp
ENST00000409694.6:n.8930T>G
ENST00000423061.5:c.25202T>G	ENSP00000396024.1:p.Leu8401Trp
ENST00000460912.6:n.1960T>G
ENST00000478916.5:n.4368T>G
ENST00000536990.5:n.2183T>G
ENST00000539504.5:c.1811T>G	ENSP00000441052.1:p.Leu604Trp
NM_033071.3:c.25202T>G	NP_149062.1:p.Leu8401Trp
NM_182961.3:c.25346T>G	NP_892006.3:p.Leu8449Trp
XM_006715407.1:c.25451T>G	XP_006715470.1:p.Leu8484Trp
XM_006715408.1:c.25439T>G	XP_006715471.1:p.Leu8480Trp
XM_006715409.1:c.25430T>G	XP_006715472.1:p.Leu8477Trp
XM_006715410.1:c.25451T>G	XP_006715473.1:p.Leu8484Trp
XM_006715411.1:c.25400T>G	XP_006715474.1:p.Leu8467Trp
XM_006715412.1:c.25436T>G	XP_006715475.1:p.Leu8479Trp
XM_006715413.1:c.25382T>G	XP_006715476.1:p.Leu8461Trp
XM_006715414.1:c.25379T>G	XP_006715477.1:p.Leu8460Trp
XM_006715415.1:c.25382T>G	XP_006715478.1:p.Leu8461Trp
XM_006715416.1:c.25367T>G	XP_006715479.1:p.Leu8456Trp
XM_006715417.1:c.25310T>G	XP_006715480.1:p.Leu8437Trp
XM_006715420.1:c.25298T>G	XP_006715483.1:p.Leu8433Trp
XM_006715421.1:c.25295T>G	XP_006715484.1:p.Leu8432Trp
XM_006715422.1:c.25292T>G	XP_006715485.1:p.Leu8431Trp
XM_006715423.1:c.25451T>G	XP_006715486.1:p.Leu8484Trp
XM_006715424.1:c.25451T>G	XP_006715487.1:p.Leu8484Trp
XM_006715425.1:c.25382T>G	XP_006715488.1:p.Leu8461Trp
XM_011535641.1:c.25448T>G	XP_011533943.1:p.Leu8483Trp
XM_011535642.1:c.25436T>G	XP_011533944.1:p.Leu8479Trp
XM_011535643.1:c.25286T>G	XP_011533945.1:p.Leu8429Trp
XM_011535644.1:c.23726T>G	XP_011533946.1:p.Leu7909Trp
XM_011535645.1:c.23219T>G	XP_011533947.1:p.Leu7740Trp
XM_011535647.1:c.18686T>G	XP_011533949.1:p.Leu6229Trp
NM_001347701.1:c.1952T>G	NP_001334630.1:p.Leu651Trp
NM_001347702.1:c.1880T>G	NP_001334631.1:p.Leu627Trp
XM_006715408.2:c.25439T>G	XP_006715471.1:p.Leu8480Trp
XM_006715410.2:c.25451T>G	XP_006715473.1:p.Leu8484Trp
XM_006715412.2:c.25436T>G	XP_006715475.1:p.Leu8479Trp
XM_006715413.2:c.25382T>G	XP_006715476.1:p.Leu8461Trp
XM_006715415.2:c.25382T>G	XP_006715478.1:p.Leu8461Trp
XM_006715416.2:c.25367T>G	XP_006715479.1:p.Leu8456Trp
XM_006715417.2:c.25310T>G	XP_006715480.1:p.Leu8437Trp
XM_006715420.2:c.25298T>G	XP_006715483.1:p.Leu8433Trp
XM_006715421.2:c.25295T>G	XP_006715484.1:p.Leu8432Trp
XM_006715423.2:c.25451T>G	XP_006715486.1:p.Leu8484Trp
XM_006715424.2:c.25451T>G	XP_006715487.1:p.Leu8484Trp
XM_006715425.2:c.25382T>G	XP_006715488.1:p.Leu8461Trp
XM_011535641.2:c.25448T>G	XP_011533943.1:p.Leu8483Trp
XM_011535642.2:c.25436T>G	XP_011533944.1:p.Leu8479Trp
XM_011535645.2:c.23219T>G	XP_011533947.1:p.Leu7740Trp
XM_017010608.1:c.25451T>G	XP_016866097.1:p.Leu8484Trp
XM_017010609.1:c.25451T>G	XP_016866098.1:p.Leu8484Trp
XM_017010610.1:c.25430T>G	XP_016866099.1:p.Leu8477Trp
XM_017010611.2:c.25424T>G	XP_016866100.1:p.Leu8475Trp
XM_017010612.1:c.25373T>G	XP_016866101.1:p.Leu8458Trp
XM_017010613.1:c.25379T>G	XP_016866102.1:p.Leu8460Trp
XM_017010614.1:c.25295T>G	XP_016866103.1:p.Leu8432Trp
XM_017010615.1:c.25226T>G	XP_016866104.1:p.Leu8409Trp
XM_017010616.1:c.25382T>G	XP_016866105.1:p.Leu8461Trp
XM_017010617.1:c.25379T>G	XP_016866106.1:p.Leu8460Trp
XM_017010618.1:c.25367T>G	XP_016866107.1:p.Leu8456Trp
XM_017010619.1:c.23726T>G	XP_016866108.1:p.Leu7909Trp
NM_182961.4:c.25346T>G MANE Select	NP_892006.3:p.Leu8449Trp
NM_001347701.2:c.1952T>G	NP_001334630.1:p.Leu651Trp
NM_001347702.2:c.1880T>G MANE Plus Clinical	NP_001334631.1:p.Leu627Trp
NM_033071.5:c.25202T>G	NP_149062.2:p.Leu8401Trp