Canonical Allele Identifier: CA366080655

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461232C>A (hg19) ; chr6:g.152140097C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140097C>A , CM000668.2:g.152140097C>A	GRCh38
NC_000006.11:g.152461232C>A , CM000668.1:g.152461232C>A	GRCh37
NC_000006.10:g.152502925C>A	NCBI36
NG_012855.1:g.502303G>T
NG_012855.2:g.502303G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1845G>T MANE Plus Clinical	ENSP00000346701.4:p.Gln615His
ENST00000367255.10:c.25311G>T MANE Select	ENSP00000356224.5:p.Gln8437His
ENST00000423061.6:c.25167G>T	ENSP00000396024.1:p.Gln8389His
ENST00000672154.1:c.713G>T
ENST00000672169.1:c.1046G>T
ENST00000673173.1:c.955G>T
ENST00000673451.1:c.1083G>T	ENSP00000500189.1:p.Gln361His
ENST00000341594.9:c.24096G>T	ENSP00000341887.6:p.Gln8032His
ENST00000347037.9:n.2059G>T
ENST00000354674.4:c.1845G>T	ENSP00000346701.4:p.Gln615His
ENST00000367251.7:c.4146G>T	ENSP00000356220.3:p.Gln1382His
ENST00000367255.9:c.25311G>T	ENSP00000356224.5:p.Gln8437His
ENST00000367256.9:n.9003G>T
ENST00000367257.8:c.3249G>T	ENSP00000356226.4:p.Gln1083His
ENST00000409694.6:n.8895G>T
ENST00000423061.5:c.25167G>T	ENSP00000396024.1:p.Gln8389His
ENST00000460912.6:n.1925G>T
ENST00000478916.5:n.4333G>T
ENST00000536990.5:n.2148G>T
ENST00000539504.5:c.1776G>T	ENSP00000441052.1:p.Gln592His
NM_033071.3:c.25167G>T	NP_149062.1:p.Gln8389His
NM_182961.3:c.25311G>T	NP_892006.3:p.Gln8437His
XM_006715407.1:c.25416G>T	XP_006715470.1:p.Gln8472His
XM_006715408.1:c.25404G>T	XP_006715471.1:p.Gln8468His
XM_006715409.1:c.25395G>T	XP_006715472.1:p.Gln8465His
XM_006715410.1:c.25416G>T	XP_006715473.1:p.Gln8472His
XM_006715411.1:c.25365G>T	XP_006715474.1:p.Gln8455His
XM_006715412.1:c.25401G>T	XP_006715475.1:p.Gln8467His
XM_006715413.1:c.25347G>T	XP_006715476.1:p.Gln8449His
XM_006715414.1:c.25344G>T	XP_006715477.1:p.Gln8448His
XM_006715415.1:c.25347G>T	XP_006715478.1:p.Gln8449His
XM_006715416.1:c.25332G>T	XP_006715479.1:p.Gln8444His
XM_006715417.1:c.25275G>T	XP_006715480.1:p.Gln8425His
XM_006715420.1:c.25263G>T	XP_006715483.1:p.Gln8421His
XM_006715421.1:c.25260G>T	XP_006715484.1:p.Gln8420His
XM_006715422.1:c.25257G>T	XP_006715485.1:p.Gln8419His
XM_006715423.1:c.25416G>T	XP_006715486.1:p.Gln8472His
XM_006715424.1:c.25416G>T	XP_006715487.1:p.Gln8472His
XM_006715425.1:c.25347G>T	XP_006715488.1:p.Gln8449His
XM_011535641.1:c.25413G>T	XP_011533943.1:p.Gln8471His
XM_011535642.1:c.25401G>T	XP_011533944.1:p.Gln8467His
XM_011535643.1:c.25251G>T	XP_011533945.1:p.Gln8417His
XM_011535644.1:c.23691G>T	XP_011533946.1:p.Gln7897His
XM_011535645.1:c.23184G>T	XP_011533947.1:p.Gln7728His
XM_011535647.1:c.18651G>T	XP_011533949.1:p.Gln6217His
NM_001347701.1:c.1917G>T	NP_001334630.1:p.Gln639His
NM_001347702.1:c.1845G>T	NP_001334631.1:p.Gln615His
XM_006715408.2:c.25404G>T	XP_006715471.1:p.Gln8468His
XM_006715410.2:c.25416G>T	XP_006715473.1:p.Gln8472His
XM_006715412.2:c.25401G>T	XP_006715475.1:p.Gln8467His
XM_006715413.2:c.25347G>T	XP_006715476.1:p.Gln8449His
XM_006715415.2:c.25347G>T	XP_006715478.1:p.Gln8449His
XM_006715416.2:c.25332G>T	XP_006715479.1:p.Gln8444His
XM_006715417.2:c.25275G>T	XP_006715480.1:p.Gln8425His
XM_006715420.2:c.25263G>T	XP_006715483.1:p.Gln8421His
XM_006715421.2:c.25260G>T	XP_006715484.1:p.Gln8420His
XM_006715423.2:c.25416G>T	XP_006715486.1:p.Gln8472His
XM_006715424.2:c.25416G>T	XP_006715487.1:p.Gln8472His
XM_006715425.2:c.25347G>T	XP_006715488.1:p.Gln8449His
XM_011535641.2:c.25413G>T	XP_011533943.1:p.Gln8471His
XM_011535642.2:c.25401G>T	XP_011533944.1:p.Gln8467His
XM_011535645.2:c.23184G>T	XP_011533947.1:p.Gln7728His
XM_017010608.1:c.25416G>T	XP_016866097.1:p.Gln8472His
XM_017010609.1:c.25416G>T	XP_016866098.1:p.Gln8472His
XM_017010610.1:c.25395G>T	XP_016866099.1:p.Gln8465His
XM_017010611.2:c.25389G>T	XP_016866100.1:p.Gln8463His
XM_017010612.1:c.25338G>T	XP_016866101.1:p.Gln8446His
XM_017010613.1:c.25344G>T	XP_016866102.1:p.Gln8448His
XM_017010614.1:c.25260G>T	XP_016866103.1:p.Gln8420His
XM_017010615.1:c.25191G>T	XP_016866104.1:p.Gln8397His
XM_017010616.1:c.25347G>T	XP_016866105.1:p.Gln8449His
XM_017010617.1:c.25344G>T	XP_016866106.1:p.Gln8448His
XM_017010618.1:c.25332G>T	XP_016866107.1:p.Gln8444His
XM_017010619.1:c.23691G>T	XP_016866108.1:p.Gln7897His
NM_182961.4:c.25311G>T MANE Select	NP_892006.3:p.Gln8437His
NM_001347701.2:c.1917G>T	NP_001334630.1:p.Gln639His
NM_001347702.2:c.1845G>T MANE Plus Clinical	NP_001334631.1:p.Gln615His
NM_033071.5:c.25167G>T	NP_149062.2:p.Gln8389His