Canonical Allele Identifier: CA452969956

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461259T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140124T>G , CM000668.2:g.152140124T>G	GRCh38
NC_000006.11:g.152461259T>G , CM000668.1:g.152461259T>G	GRCh37
NC_000006.10:g.152502952T>G	NCBI36
NG_012855.1:g.502276A>C
NG_012855.2:g.502276A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1818A>C MANE Plus Clinical	ENSP00000346701.4:p.Ala606=
ENST00000367255.10:c.25284A>C MANE Select	ENSP00000356224.5:p.Ala8428=
ENST00000423061.6:c.25140A>C	ENSP00000396024.1:p.Ala8380=
ENST00000672154.1:c.686A>C
ENST00000672169.1:c.1019A>C
ENST00000673173.1:c.928A>C
ENST00000673451.1:c.1056A>C	ENSP00000500189.1:p.Ala352=
ENST00000341594.9:c.24069A>C	ENSP00000341887.6:p.Ala8023=
ENST00000347037.9:n.2032A>C
ENST00000354674.4:c.1818A>C	ENSP00000346701.4:p.Ala606=
ENST00000367251.7:c.4119A>C	ENSP00000356220.3:p.Ala1373=
ENST00000367255.9:c.25284A>C	ENSP00000356224.5:p.Ala8428=
ENST00000367256.9:n.8976A>C
ENST00000367257.8:c.3222A>C	ENSP00000356226.4:p.Ala1074=
ENST00000409694.6:n.8868A>C
ENST00000423061.5:c.25140A>C	ENSP00000396024.1:p.Ala8380=
ENST00000460912.6:n.1898A>C
ENST00000478916.5:n.4306A>C
ENST00000536990.5:n.2121A>C
ENST00000539504.5:c.1749A>C	ENSP00000441052.1:p.Ala583=
NM_033071.3:c.25140A>C	NP_149062.1:p.Ala8380=
NM_182961.3:c.25284A>C	NP_892006.3:p.Ala8428=
XM_006715407.1:c.25389A>C	XP_006715470.1:p.Ala8463=
XM_006715408.1:c.25377A>C	XP_006715471.1:p.Ala8459=
XM_006715409.1:c.25368A>C	XP_006715472.1:p.Ala8456=
XM_006715410.1:c.25389A>C	XP_006715473.1:p.Ala8463=
XM_006715411.1:c.25338A>C	XP_006715474.1:p.Ala8446=
XM_006715412.1:c.25374A>C	XP_006715475.1:p.Ala8458=
XM_006715413.1:c.25320A>C	XP_006715476.1:p.Ala8440=
XM_006715414.1:c.25317A>C	XP_006715477.1:p.Ala8439=
XM_006715415.1:c.25320A>C	XP_006715478.1:p.Ala8440=
XM_006715416.1:c.25305A>C	XP_006715479.1:p.Ala8435=
XM_006715417.1:c.25248A>C	XP_006715480.1:p.Ala8416=
XM_006715420.1:c.25236A>C	XP_006715483.1:p.Ala8412=
XM_006715421.1:c.25233A>C	XP_006715484.1:p.Ala8411=
XM_006715422.1:c.25230A>C	XP_006715485.1:p.Ala8410=
XM_006715423.1:c.25389A>C	XP_006715486.1:p.Ala8463=
XM_006715424.1:c.25389A>C	XP_006715487.1:p.Ala8463=
XM_006715425.1:c.25320A>C	XP_006715488.1:p.Ala8440=
XM_011535641.1:c.25386A>C	XP_011533943.1:p.Ala8462=
XM_011535642.1:c.25374A>C	XP_011533944.1:p.Ala8458=
XM_011535643.1:c.25224A>C	XP_011533945.1:p.Ala8408=
XM_011535644.1:c.23664A>C	XP_011533946.1:p.Ala7888=
XM_011535645.1:c.23157A>C	XP_011533947.1:p.Ala7719=
XM_011535647.1:c.18624A>C	XP_011533949.1:p.Ala6208=
NM_001347701.1:c.1890A>C	NP_001334630.1:p.Ala630=
NM_001347702.1:c.1818A>C	NP_001334631.1:p.Ala606=
XM_006715408.2:c.25377A>C	XP_006715471.1:p.Ala8459=
XM_006715410.2:c.25389A>C	XP_006715473.1:p.Ala8463=
XM_006715412.2:c.25374A>C	XP_006715475.1:p.Ala8458=
XM_006715413.2:c.25320A>C	XP_006715476.1:p.Ala8440=
XM_006715415.2:c.25320A>C	XP_006715478.1:p.Ala8440=
XM_006715416.2:c.25305A>C	XP_006715479.1:p.Ala8435=
XM_006715417.2:c.25248A>C	XP_006715480.1:p.Ala8416=
XM_006715420.2:c.25236A>C	XP_006715483.1:p.Ala8412=
XM_006715421.2:c.25233A>C	XP_006715484.1:p.Ala8411=
XM_006715423.2:c.25389A>C	XP_006715486.1:p.Ala8463=
XM_006715424.2:c.25389A>C	XP_006715487.1:p.Ala8463=
XM_006715425.2:c.25320A>C	XP_006715488.1:p.Ala8440=
XM_011535641.2:c.25386A>C	XP_011533943.1:p.Ala8462=
XM_011535642.2:c.25374A>C	XP_011533944.1:p.Ala8458=
XM_011535645.2:c.23157A>C	XP_011533947.1:p.Ala7719=
XM_017010608.1:c.25389A>C	XP_016866097.1:p.Ala8463=
XM_017010609.1:c.25389A>C	XP_016866098.1:p.Ala8463=
XM_017010610.1:c.25368A>C	XP_016866099.1:p.Ala8456=
XM_017010611.2:c.25362A>C	XP_016866100.1:p.Ala8454=
XM_017010612.1:c.25311A>C	XP_016866101.1:p.Ala8437=
XM_017010613.1:c.25317A>C	XP_016866102.1:p.Ala8439=
XM_017010614.1:c.25233A>C	XP_016866103.1:p.Ala8411=
XM_017010615.1:c.25164A>C	XP_016866104.1:p.Ala8388=
XM_017010616.1:c.25320A>C	XP_016866105.1:p.Ala8440=
XM_017010617.1:c.25317A>C	XP_016866106.1:p.Ala8439=
XM_017010618.1:c.25305A>C	XP_016866107.1:p.Ala8435=
XM_017010619.1:c.23664A>C	XP_016866108.1:p.Ala7888=
NM_182961.4:c.25284A>C MANE Select	NP_892006.3:p.Ala8428=
NM_001347701.2:c.1890A>C	NP_001334630.1:p.Ala630=
NM_001347702.2:c.1818A>C MANE Plus Clinical	NP_001334631.1:p.Ala606=
NM_033071.5:c.25140A>C	NP_149062.2:p.Ala8380=