Canonical Allele Identifier: CA155428

Gene: SYNE1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152148196C>T , CM000668.2:g.152148196C>T	GRCh38
NC_000006.11:g.152469331C>T , CM000668.1:g.152469331C>T	GRCh37
NC_000006.10:g.152511024C>T	NCBI36
NG_012855.1:g.494204G>A
NG_012855.2:g.494204G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1290G>A MANE Plus Clinical	ENSP00000346701.4:p.Pro430=
ENST00000367255.10:c.24825G>A MANE Select	ENSP00000356224.5:p.Pro8275=
ENST00000423061.6:c.24612G>A	ENSP00000396024.1:p.Pro8204=
ENST00000672154.1:c.227G>A
ENST00000672169.1:c.560G>A
ENST00000673173.1:c.739G>A
ENST00000673451.1:c.597G>A	ENSP00000500189.1:p.Pro199=
ENST00000341594.9:c.23610G>A	ENSP00000341887.6:p.Pro7870=
ENST00000347037.9:n.1504G>A
ENST00000354674.4:c.1290G>A	ENSP00000346701.4:p.Pro430=
ENST00000367251.7:c.3591G>A	ENSP00000356220.3:p.Pro1197=
ENST00000367255.9:c.24825G>A	ENSP00000356224.5:p.Pro8275=
ENST00000367256.9:n.8517G>A
ENST00000367257.8:c.2763G>A	ENSP00000356226.4:p.Pro921=
ENST00000409694.6:n.8409G>A
ENST00000423061.5:c.24612G>A	ENSP00000396024.1:p.Pro8204=
ENST00000460912.6:n.1370G>A
ENST00000472563.2:n.213G>A
ENST00000536990.5:n.1662G>A
ENST00000539504.5:c.1290G>A	ENSP00000441052.1:p.Pro430=
NM_033071.3:c.24612G>A	NP_149062.1:p.Pro8204=
NM_182961.3:c.24825G>A	NP_892006.3:p.Pro8275=
XM_006715407.1:c.24861G>A	XP_006715470.1:p.Pro8287=
XM_006715408.1:c.24849G>A	XP_006715471.1:p.Pro8283=
XM_006715409.1:c.24840G>A	XP_006715472.1:p.Pro8280=
XM_006715410.1:c.24861G>A	XP_006715473.1:p.Pro8287=
XM_006715411.1:c.24810G>A	XP_006715474.1:p.Pro8270=
XM_006715412.1:c.24846G>A	XP_006715475.1:p.Pro8282=
XM_006715413.1:c.24861G>A	XP_006715476.1:p.Pro8287=
XM_006715414.1:c.24789G>A	XP_006715477.1:p.Pro8263=
XM_006715415.1:c.24861G>A	XP_006715478.1:p.Pro8287=
XM_006715416.1:c.24846G>A	XP_006715479.1:p.Pro8282=
XM_006715417.1:c.24720G>A	XP_006715480.1:p.Pro8240=
XM_006715420.1:c.24708G>A	XP_006715483.1:p.Pro8236=
XM_006715421.1:c.24705G>A	XP_006715484.1:p.Pro8235=
XM_006715422.1:c.24702G>A	XP_006715485.1:p.Pro8234=
XM_006715423.1:c.24861G>A	XP_006715486.1:p.Pro8287=
XM_006715424.1:c.24861G>A	XP_006715487.1:p.Pro8287=
XM_006715425.1:c.24861G>A	XP_006715488.1:p.Pro8287=
XM_011535641.1:c.24858G>A	XP_011533943.1:p.Pro8286=
XM_011535642.1:c.24846G>A	XP_011533944.1:p.Pro8282=
XM_011535643.1:c.24696G>A	XP_011533945.1:p.Pro8232=
XM_011535644.1:c.23136G>A	XP_011533946.1:p.Pro7712=
XM_011535645.1:c.22629G>A	XP_011533947.1:p.Pro7543=
XM_011535647.1:c.18096G>A	XP_011533949.1:p.Pro6032=
NM_001347701.1:c.1431G>A	NP_001334630.1:p.Pro477=
NM_001347702.1:c.1290G>A	NP_001334631.1:p.Pro430=
XM_006715408.2:c.24849G>A	XP_006715471.1:p.Pro8283=
XM_006715410.2:c.24861G>A	XP_006715473.1:p.Pro8287=
XM_006715412.2:c.24846G>A	XP_006715475.1:p.Pro8282=
XM_006715413.2:c.24861G>A	XP_006715476.1:p.Pro8287=
XM_006715415.2:c.24861G>A	XP_006715478.1:p.Pro8287=
XM_006715416.2:c.24846G>A	XP_006715479.1:p.Pro8282=
XM_006715417.2:c.24720G>A	XP_006715480.1:p.Pro8240=
XM_006715420.2:c.24708G>A	XP_006715483.1:p.Pro8236=
XM_006715421.2:c.24705G>A	XP_006715484.1:p.Pro8235=
XM_006715423.2:c.24861G>A	XP_006715486.1:p.Pro8287=
XM_006715424.2:c.24861G>A	XP_006715487.1:p.Pro8287=
XM_006715425.2:c.24861G>A	XP_006715488.1:p.Pro8287=
XM_011535641.2:c.24858G>A	XP_011533943.1:p.Pro8286=
XM_011535642.2:c.24846G>A	XP_011533944.1:p.Pro8282=
XM_011535645.2:c.22629G>A	XP_011533947.1:p.Pro7543=
XM_017010608.1:c.24861G>A	XP_016866097.1:p.Pro8287=
XM_017010609.1:c.24861G>A	XP_016866098.1:p.Pro8287=
XM_017010610.1:c.24840G>A	XP_016866099.1:p.Pro8280=
XM_017010611.2:c.24834G>A	XP_016866100.1:p.Pro8278=
XM_017010612.1:c.24783G>A	XP_016866101.1:p.Pro8261=
XM_017010613.1:c.24858G>A	XP_016866102.1:p.Pro8286=
XM_017010614.1:c.24705G>A	XP_016866103.1:p.Pro8235=
XM_017010615.1:c.24705G>A	XP_016866104.1:p.Pro8235=
XM_017010616.1:c.24861G>A	XP_016866105.1:p.Pro8287=
XM_017010617.1:c.24858G>A	XP_016866106.1:p.Pro8286=
XM_017010618.1:c.24846G>A	XP_016866107.1:p.Pro8282=
XM_017010619.1:c.23136G>A	XP_016866108.1:p.Pro7712=
NM_182961.4:c.24825G>A MANE Select	NP_892006.3:p.Pro8275=
NM_001347701.2:c.1431G>A	NP_001334630.1:p.Pro477=
NM_001347702.2:c.1290G>A MANE Plus Clinical	NP_001334631.1:p.Pro430=
NM_033071.5:c.24612G>A	NP_149062.2:p.Pro8204=