Canonical Allele Identifier: CA4053562

Gene: SYNE1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152176431C>T , CM000668.2:g.152176431C>T	GRCh38
NC_000006.11:g.152497566C>T , CM000668.1:g.152497566C>T	GRCh37
NC_000006.10:g.152539259C>T	NCBI36
NG_012855.1:g.465969G>A
NG_012855.2:g.465969G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_182961.4:c.23590G>A MANE Select	NP_892006.3:p.Asp7864Asn
ENST00000367255.10:c.23590G>A MANE Select	ENSP00000356224.5:p.Asp7864Asn
NM_001347701.1:c.196G>A	NP_001334630.1:p.Asp66Asn
NM_001347701.2:c.196G>A	NP_001334630.1:p.Asp66Asn
NM_033071.3:c.23377G>A	NP_149062.1:p.Asp7793Asn
NM_033071.5:c.23377G>A	NP_149062.2:p.Asp7793Asn
NM_182961.3:c.23590G>A	NP_892006.3:p.Asp7864Asn
ENST00000341594.9:c.22375G>A	ENSP00000341887.6:p.Asp7459Asn
ENST00000347037.9:n.269G>A
ENST00000367251.7:c.2356G>A	ENSP00000356220.3:p.Asp786Asn
ENST00000367255.9:c.23590G>A	ENSP00000356224.5:p.Asp7864Asn
ENST00000367256.9:n.7282G>A
ENST00000367257.8:c.1528G>A	ENSP00000356226.4:p.Asp510Asn
ENST00000409694.6:n.7174G>A
ENST00000423061.5:c.23377G>A	ENSP00000396024.1:p.Asp7793Asn
ENST00000423061.6:c.23377G>A	ENSP00000396024.1:p.Asp7793Asn
ENST00000536990.5:n.427G>A
XM_006715407.1:c.23626G>A	XP_006715470.1:p.Asp7876Asn
XM_006715408.1:c.23614G>A	XP_006715471.1:p.Asp7872Asn
XM_006715408.2:c.23614G>A	XP_006715471.1:p.Asp7872Asn
XM_006715409.1:c.23605G>A	XP_006715472.1:p.Asp7869Asn
XM_006715410.1:c.23626G>A	XP_006715473.1:p.Asp7876Asn
XM_006715410.2:c.23626G>A	XP_006715473.1:p.Asp7876Asn
XM_006715411.1:c.23575G>A	XP_006715474.1:p.Asp7859Asn
XM_006715412.1:c.23611G>A	XP_006715475.1:p.Asp7871Asn
XM_006715412.2:c.23611G>A	XP_006715475.1:p.Asp7871Asn
XM_006715413.1:c.23626G>A	XP_006715476.1:p.Asp7876Asn
XM_006715413.2:c.23626G>A	XP_006715476.1:p.Asp7876Asn
XM_006715414.1:c.23554G>A	XP_006715477.1:p.Asp7852Asn
XM_006715415.1:c.23626G>A	XP_006715478.1:p.Asp7876Asn
XM_006715415.2:c.23626G>A	XP_006715478.1:p.Asp7876Asn
XM_006715416.1:c.23611G>A	XP_006715479.1:p.Asp7871Asn
XM_006715416.2:c.23611G>A	XP_006715479.1:p.Asp7871Asn
XM_006715417.1:c.23485G>A	XP_006715480.1:p.Asp7829Asn
XM_006715417.2:c.23485G>A	XP_006715480.1:p.Asp7829Asn
XM_006715420.1:c.23473G>A	XP_006715483.1:p.Asp7825Asn
XM_006715420.2:c.23473G>A	XP_006715483.1:p.Asp7825Asn
XM_006715421.1:c.23470G>A	XP_006715484.1:p.Asp7824Asn
XM_006715421.2:c.23470G>A	XP_006715484.1:p.Asp7824Asn
XM_006715422.1:c.23467G>A	XP_006715485.1:p.Asp7823Asn
XM_006715423.1:c.23626G>A	XP_006715486.1:p.Asp7876Asn
XM_006715423.2:c.23626G>A	XP_006715486.1:p.Asp7876Asn
XM_006715424.1:c.23626G>A	XP_006715487.1:p.Asp7876Asn
XM_006715424.2:c.23626G>A	XP_006715487.1:p.Asp7876Asn
XM_006715425.1:c.23626G>A	XP_006715488.1:p.Asp7876Asn
XM_006715425.2:c.23626G>A	XP_006715488.1:p.Asp7876Asn
XM_011535641.1:c.23623G>A	XP_011533943.1:p.Asp7875Asn
XM_011535641.2:c.23623G>A	XP_011533943.1:p.Asp7875Asn
XM_011535642.1:c.23611G>A	XP_011533944.1:p.Asp7871Asn
XM_011535642.2:c.23611G>A	XP_011533944.1:p.Asp7871Asn
XM_011535643.1:c.23461G>A	XP_011533945.1:p.Asp7821Asn
XM_011535644.1:c.21901G>A	XP_011533946.1:p.Asp7301Asn
XM_011535645.1:c.21394G>A	XP_011533947.1:p.Asp7132Asn
XM_011535645.2:c.21394G>A	XP_011533947.1:p.Asp7132Asn
XM_011535647.1:c.16861G>A	XP_011533949.1:p.Asp5621Asn
XM_017010608.1:c.23626G>A	XP_016866097.1:p.Asp7876Asn
XM_017010609.1:c.23626G>A	XP_016866098.1:p.Asp7876Asn
XM_017010610.1:c.23605G>A	XP_016866099.1:p.Asp7869Asn
XM_017010611.2:c.23599G>A	XP_016866100.1:p.Asp7867Asn
XM_017010612.1:c.23548G>A	XP_016866101.1:p.Asp7850Asn
XM_017010613.1:c.23623G>A	XP_016866102.1:p.Asp7875Asn
XM_017010614.1:c.23470G>A	XP_016866103.1:p.Asp7824Asn
XM_017010615.1:c.23470G>A	XP_016866104.1:p.Asp7824Asn
XM_017010616.1:c.23626G>A	XP_016866105.1:p.Asp7876Asn
XM_017010617.1:c.23623G>A	XP_016866106.1:p.Asp7875Asn
XM_017010618.1:c.23611G>A	XP_016866107.1:p.Asp7871Asn
XM_017010619.1:c.21901G>A	XP_016866108.1:p.Asp7301Asn