Canonical Allele Identifier: CA366082920

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152464768T>A (hg19) ; chr6:g.152143633T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152143633T>A , CM000668.2:g.152143633T>A	GRCh38
NC_000006.11:g.152464768T>A , CM000668.1:g.152464768T>A	GRCh37
NC_000006.10:g.152506461T>A	NCBI36
NG_012855.1:g.498767A>T
NG_012855.2:g.498767A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000354674.5:c.1643A>T MANE Plus Clinical	ENSP00000346701.4:p.Tyr548Phe
ENST00000367255.10:c.25109A>T MANE Select	ENSP00000356224.5:p.Tyr8370Phe
ENST00000423061.6:c.24965A>T	ENSP00000396024.1:p.Tyr8322Phe
ENST00000672154.1:c.511A>T
ENST00000672169.1:c.844A>T
ENST00000673173.1:c.891-3472A>T
ENST00000673451.1:c.881A>T	ENSP00000500189.1:p.Tyr294Phe
ENST00000341594.9:c.23894A>T	ENSP00000341887.6:p.Tyr7965Phe
ENST00000347037.9:n.1857A>T
ENST00000354674.4:c.1643A>T	ENSP00000346701.4:p.Tyr548Phe
ENST00000367251.7:c.3944A>T	ENSP00000356220.3:p.Tyr1315Phe
ENST00000367255.9:c.25109A>T	ENSP00000356224.5:p.Tyr8370Phe
ENST00000367256.9:n.8801A>T
ENST00000367257.8:c.3047A>T	ENSP00000356226.4:p.Tyr1016Phe
ENST00000409694.6:n.8693A>T
ENST00000423061.5:c.24965A>T	ENSP00000396024.1:p.Tyr8322Phe
ENST00000460912.6:n.1723A>T
ENST00000478916.5:n.4131A>T
ENST00000536990.5:n.1946A>T
ENST00000539504.5:c.1574A>T	ENSP00000441052.1:p.Tyr525Phe
NM_033071.3:c.24965A>T	NP_149062.1:p.Tyr8322Phe
NM_182961.3:c.25109A>T	NP_892006.3:p.Tyr8370Phe
XM_006715407.1:c.25214A>T	XP_006715470.1:p.Tyr8405Phe
XM_006715408.1:c.25202A>T	XP_006715471.1:p.Tyr8401Phe
XM_006715409.1:c.25193A>T	XP_006715472.1:p.Tyr8398Phe
XM_006715410.1:c.25214A>T	XP_006715473.1:p.Tyr8405Phe
XM_006715411.1:c.25163A>T	XP_006715474.1:p.Tyr8388Phe
XM_006715412.1:c.25199A>T	XP_006715475.1:p.Tyr8400Phe
XM_006715413.1:c.25145A>T	XP_006715476.1:p.Tyr8382Phe
XM_006715414.1:c.25142A>T	XP_006715477.1:p.Tyr8381Phe
XM_006715415.1:c.25145A>T	XP_006715478.1:p.Tyr8382Phe
XM_006715416.1:c.25130A>T	XP_006715479.1:p.Tyr8377Phe
XM_006715417.1:c.25073A>T	XP_006715480.1:p.Tyr8358Phe
XM_006715420.1:c.25061A>T	XP_006715483.1:p.Tyr8354Phe
XM_006715421.1:c.25058A>T	XP_006715484.1:p.Tyr8353Phe
XM_006715422.1:c.25055A>T	XP_006715485.1:p.Tyr8352Phe
XM_006715423.1:c.25214A>T	XP_006715486.1:p.Tyr8405Phe
XM_006715424.1:c.25214A>T	XP_006715487.1:p.Tyr8405Phe
XM_006715425.1:c.25145A>T	XP_006715488.1:p.Tyr8382Phe
XM_011535641.1:c.25211A>T	XP_011533943.1:p.Tyr8404Phe
XM_011535642.1:c.25199A>T	XP_011533944.1:p.Tyr8400Phe
XM_011535643.1:c.25049A>T	XP_011533945.1:p.Tyr8350Phe
XM_011535644.1:c.23489A>T	XP_011533946.1:p.Tyr7830Phe
XM_011535645.1:c.22982A>T	XP_011533947.1:p.Tyr7661Phe
XM_011535647.1:c.18449A>T	XP_011533949.1:p.Tyr6150Phe
NM_001347701.1:c.1715A>T	NP_001334630.1:p.Tyr572Phe
NM_001347702.1:c.1643A>T	NP_001334631.1:p.Tyr548Phe
XM_006715408.2:c.25202A>T	XP_006715471.1:p.Tyr8401Phe
XM_006715410.2:c.25214A>T	XP_006715473.1:p.Tyr8405Phe
XM_006715412.2:c.25199A>T	XP_006715475.1:p.Tyr8400Phe
XM_006715413.2:c.25145A>T	XP_006715476.1:p.Tyr8382Phe
XM_006715415.2:c.25145A>T	XP_006715478.1:p.Tyr8382Phe
XM_006715416.2:c.25130A>T	XP_006715479.1:p.Tyr8377Phe
XM_006715417.2:c.25073A>T	XP_006715480.1:p.Tyr8358Phe
XM_006715420.2:c.25061A>T	XP_006715483.1:p.Tyr8354Phe
XM_006715421.2:c.25058A>T	XP_006715484.1:p.Tyr8353Phe
XM_006715423.2:c.25214A>T	XP_006715486.1:p.Tyr8405Phe
XM_006715424.2:c.25214A>T	XP_006715487.1:p.Tyr8405Phe
XM_006715425.2:c.25145A>T	XP_006715488.1:p.Tyr8382Phe
XM_011535641.2:c.25211A>T	XP_011533943.1:p.Tyr8404Phe
XM_011535642.2:c.25199A>T	XP_011533944.1:p.Tyr8400Phe
XM_011535645.2:c.22982A>T	XP_011533947.1:p.Tyr7661Phe
XM_017010608.1:c.25214A>T	XP_016866097.1:p.Tyr8405Phe
XM_017010609.1:c.25214A>T	XP_016866098.1:p.Tyr8405Phe
XM_017010610.1:c.25193A>T	XP_016866099.1:p.Tyr8398Phe
XM_017010611.2:c.25187A>T	XP_016866100.1:p.Tyr8396Phe
XM_017010612.1:c.25136A>T	XP_016866101.1:p.Tyr8379Phe
XM_017010613.1:c.25142A>T	XP_016866102.1:p.Tyr8381Phe
XM_017010614.1:c.25058A>T	XP_016866103.1:p.Tyr8353Phe
XM_017010615.1:c.24989A>T	XP_016866104.1:p.Tyr8330Phe
XM_017010616.1:c.25145A>T	XP_016866105.1:p.Tyr8382Phe
XM_017010617.1:c.25142A>T	XP_016866106.1:p.Tyr8381Phe
XM_017010618.1:c.25130A>T	XP_016866107.1:p.Tyr8377Phe
XM_017010619.1:c.23489A>T	XP_016866108.1:p.Tyr7830Phe
NM_182961.4:c.25109A>T MANE Select	NP_892006.3:p.Tyr8370Phe
NM_001347701.2:c.1715A>T	NP_001334630.1:p.Tyr572Phe
NM_001347702.2:c.1643A>T MANE Plus Clinical	NP_001334631.1:p.Tyr548Phe
NM_033071.5:c.24965A>T	NP_149062.2:p.Tyr8322Phe