Canonical Allele Identifier: CA155436

Gene: SYNE1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152143704A>G , CM000668.2:g.152143704A>G	GRCh38
NC_000006.11:g.152464839A>G , CM000668.1:g.152464839A>G	GRCh37
NC_000006.10:g.152506532A>G	NCBI36
NG_012855.1:g.498696T>C
NG_012855.2:g.498696T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1572T>C MANE Plus Clinical	ENSP00000346701.4:p.Arg524=
ENST00000367255.10:c.25038T>C MANE Select	ENSP00000356224.5:p.Arg8346=
ENST00000423061.6:c.24894T>C	ENSP00000396024.1:p.Arg8298=
ENST00000672154.1:c.440T>C
ENST00000672169.1:c.773T>C
ENST00000673173.1:c.891-3543T>C
ENST00000673451.1:c.810T>C	ENSP00000500189.1:p.Arg270=
ENST00000341594.9:c.23823T>C	ENSP00000341887.6:p.Arg7941=
ENST00000347037.9:n.1786T>C
ENST00000354674.4:c.1572T>C	ENSP00000346701.4:p.Arg524=
ENST00000367251.7:c.3873T>C	ENSP00000356220.3:p.Arg1291=
ENST00000367255.9:c.25038T>C	ENSP00000356224.5:p.Arg8346=
ENST00000367256.9:n.8730T>C
ENST00000367257.8:c.2976T>C	ENSP00000356226.4:p.Arg992=
ENST00000409694.6:n.8622T>C
ENST00000423061.5:c.24894T>C	ENSP00000396024.1:p.Arg8298=
ENST00000460912.6:n.1652T>C
ENST00000478916.5:n.4060T>C
ENST00000536990.5:n.1875T>C
ENST00000539504.5:c.1503T>C	ENSP00000441052.1:p.Arg501=
NM_033071.3:c.24894T>C	NP_149062.1:p.Arg8298=
NM_182961.3:c.25038T>C	NP_892006.3:p.Arg8346=
XM_006715407.1:c.25143T>C	XP_006715470.1:p.Arg8381=
XM_006715408.1:c.25131T>C	XP_006715471.1:p.Arg8377=
XM_006715409.1:c.25122T>C	XP_006715472.1:p.Arg8374=
XM_006715410.1:c.25143T>C	XP_006715473.1:p.Arg8381=
XM_006715411.1:c.25092T>C	XP_006715474.1:p.Arg8364=
XM_006715412.1:c.25128T>C	XP_006715475.1:p.Arg8376=
XM_006715413.1:c.25074T>C	XP_006715476.1:p.Arg8358=
XM_006715414.1:c.25071T>C	XP_006715477.1:p.Arg8357=
XM_006715415.1:c.25074T>C	XP_006715478.1:p.Arg8358=
XM_006715416.1:c.25059T>C	XP_006715479.1:p.Arg8353=
XM_006715417.1:c.25002T>C	XP_006715480.1:p.Arg8334=
XM_006715420.1:c.24990T>C	XP_006715483.1:p.Arg8330=
XM_006715421.1:c.24987T>C	XP_006715484.1:p.Arg8329=
XM_006715422.1:c.24984T>C	XP_006715485.1:p.Arg8328=
XM_006715423.1:c.25143T>C	XP_006715486.1:p.Arg8381=
XM_006715424.1:c.25143T>C	XP_006715487.1:p.Arg8381=
XM_006715425.1:c.25074T>C	XP_006715488.1:p.Arg8358=
XM_011535641.1:c.25140T>C	XP_011533943.1:p.Arg8380=
XM_011535642.1:c.25128T>C	XP_011533944.1:p.Arg8376=
XM_011535643.1:c.24978T>C	XP_011533945.1:p.Arg8326=
XM_011535644.1:c.23418T>C	XP_011533946.1:p.Arg7806=
XM_011535645.1:c.22911T>C	XP_011533947.1:p.Arg7637=
XM_011535647.1:c.18378T>C	XP_011533949.1:p.Arg6126=
NM_001347701.1:c.1644T>C	NP_001334630.1:p.Arg548=
NM_001347702.1:c.1572T>C	NP_001334631.1:p.Arg524=
XM_006715408.2:c.25131T>C	XP_006715471.1:p.Arg8377=
XM_006715410.2:c.25143T>C	XP_006715473.1:p.Arg8381=
XM_006715412.2:c.25128T>C	XP_006715475.1:p.Arg8376=
XM_006715413.2:c.25074T>C	XP_006715476.1:p.Arg8358=
XM_006715415.2:c.25074T>C	XP_006715478.1:p.Arg8358=
XM_006715416.2:c.25059T>C	XP_006715479.1:p.Arg8353=
XM_006715417.2:c.25002T>C	XP_006715480.1:p.Arg8334=
XM_006715420.2:c.24990T>C	XP_006715483.1:p.Arg8330=
XM_006715421.2:c.24987T>C	XP_006715484.1:p.Arg8329=
XM_006715423.2:c.25143T>C	XP_006715486.1:p.Arg8381=
XM_006715424.2:c.25143T>C	XP_006715487.1:p.Arg8381=
XM_006715425.2:c.25074T>C	XP_006715488.1:p.Arg8358=
XM_011535641.2:c.25140T>C	XP_011533943.1:p.Arg8380=
XM_011535642.2:c.25128T>C	XP_011533944.1:p.Arg8376=
XM_011535645.2:c.22911T>C	XP_011533947.1:p.Arg7637=
XM_017010608.1:c.25143T>C	XP_016866097.1:p.Arg8381=
XM_017010609.1:c.25143T>C	XP_016866098.1:p.Arg8381=
XM_017010610.1:c.25122T>C	XP_016866099.1:p.Arg8374=
XM_017010611.2:c.25116T>C	XP_016866100.1:p.Arg8372=
XM_017010612.1:c.25065T>C	XP_016866101.1:p.Arg8355=
XM_017010613.1:c.25071T>C	XP_016866102.1:p.Arg8357=
XM_017010614.1:c.24987T>C	XP_016866103.1:p.Arg8329=
XM_017010615.1:c.24918T>C	XP_016866104.1:p.Arg8306=
XM_017010616.1:c.25074T>C	XP_016866105.1:p.Arg8358=
XM_017010617.1:c.25071T>C	XP_016866106.1:p.Arg8357=
XM_017010618.1:c.25059T>C	XP_016866107.1:p.Arg8353=
XM_017010619.1:c.23418T>C	XP_016866108.1:p.Arg7806=
NM_182961.4:c.25038T>C MANE Select	NP_892006.3:p.Arg8346=
NM_001347701.2:c.1644T>C	NP_001334630.1:p.Arg548=
NM_001347702.2:c.1572T>C MANE Plus Clinical	NP_001334631.1:p.Arg524=
NM_033071.5:c.24894T>C	NP_149062.2:p.Arg8298=