Canonical Allele Identifier: CA366080990

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152461281C>A (hg19) ; chr6:g.152140146C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152140146C>A , CM000668.2:g.152140146C>A	GRCh38
NC_000006.11:g.152461281C>A , CM000668.1:g.152461281C>A	GRCh37
NC_000006.10:g.152502974C>A	NCBI36
NG_012855.1:g.502254G>T
NG_012855.2:g.502254G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.1796G>T MANE Plus Clinical	ENSP00000346701.4:p.Trp599Leu
ENST00000367255.10:c.25262G>T MANE Select	ENSP00000356224.5:p.Trp8421Leu
ENST00000423061.6:c.25118G>T	ENSP00000396024.1:p.Trp8373Leu
ENST00000672154.1:c.664G>T
ENST00000672169.1:c.997G>T
ENST00000673173.1:c.906G>T
ENST00000673451.1:c.1034G>T	ENSP00000500189.1:p.Trp345Leu
ENST00000341594.9:c.24047G>T	ENSP00000341887.6:p.Trp8016Leu
ENST00000347037.9:n.2010G>T
ENST00000354674.4:c.1796G>T	ENSP00000346701.4:p.Trp599Leu
ENST00000367251.7:c.4097G>T	ENSP00000356220.3:p.Trp1366Leu
ENST00000367255.9:c.25262G>T	ENSP00000356224.5:p.Trp8421Leu
ENST00000367256.9:n.8954G>T
ENST00000367257.8:c.3200G>T	ENSP00000356226.4:p.Trp1067Leu
ENST00000409694.6:n.8846G>T
ENST00000423061.5:c.25118G>T	ENSP00000396024.1:p.Trp8373Leu
ENST00000460912.6:n.1876G>T
ENST00000478916.5:n.4284G>T
ENST00000536990.5:n.2099G>T
ENST00000539504.5:c.1727G>T	ENSP00000441052.1:p.Trp576Leu
NM_033071.3:c.25118G>T	NP_149062.1:p.Trp8373Leu
NM_182961.3:c.25262G>T	NP_892006.3:p.Trp8421Leu
XM_006715407.1:c.25367G>T	XP_006715470.1:p.Trp8456Leu
XM_006715408.1:c.25355G>T	XP_006715471.1:p.Trp8452Leu
XM_006715409.1:c.25346G>T	XP_006715472.1:p.Trp8449Leu
XM_006715410.1:c.25367G>T	XP_006715473.1:p.Trp8456Leu
XM_006715411.1:c.25316G>T	XP_006715474.1:p.Trp8439Leu
XM_006715412.1:c.25352G>T	XP_006715475.1:p.Trp8451Leu
XM_006715413.1:c.25298G>T	XP_006715476.1:p.Trp8433Leu
XM_006715414.1:c.25295G>T	XP_006715477.1:p.Trp8432Leu
XM_006715415.1:c.25298G>T	XP_006715478.1:p.Trp8433Leu
XM_006715416.1:c.25283G>T	XP_006715479.1:p.Trp8428Leu
XM_006715417.1:c.25226G>T	XP_006715480.1:p.Trp8409Leu
XM_006715420.1:c.25214G>T	XP_006715483.1:p.Trp8405Leu
XM_006715421.1:c.25211G>T	XP_006715484.1:p.Trp8404Leu
XM_006715422.1:c.25208G>T	XP_006715485.1:p.Trp8403Leu
XM_006715423.1:c.25367G>T	XP_006715486.1:p.Trp8456Leu
XM_006715424.1:c.25367G>T	XP_006715487.1:p.Trp8456Leu
XM_006715425.1:c.25298G>T	XP_006715488.1:p.Trp8433Leu
XM_011535641.1:c.25364G>T	XP_011533943.1:p.Trp8455Leu
XM_011535642.1:c.25352G>T	XP_011533944.1:p.Trp8451Leu
XM_011535643.1:c.25202G>T	XP_011533945.1:p.Trp8401Leu
XM_011535644.1:c.23642G>T	XP_011533946.1:p.Trp7881Leu
XM_011535645.1:c.23135G>T	XP_011533947.1:p.Trp7712Leu
XM_011535647.1:c.18602G>T	XP_011533949.1:p.Trp6201Leu
NM_001347701.1:c.1868G>T	NP_001334630.1:p.Trp623Leu
NM_001347702.1:c.1796G>T	NP_001334631.1:p.Trp599Leu
XM_006715408.2:c.25355G>T	XP_006715471.1:p.Trp8452Leu
XM_006715410.2:c.25367G>T	XP_006715473.1:p.Trp8456Leu
XM_006715412.2:c.25352G>T	XP_006715475.1:p.Trp8451Leu
XM_006715413.2:c.25298G>T	XP_006715476.1:p.Trp8433Leu
XM_006715415.2:c.25298G>T	XP_006715478.1:p.Trp8433Leu
XM_006715416.2:c.25283G>T	XP_006715479.1:p.Trp8428Leu
XM_006715417.2:c.25226G>T	XP_006715480.1:p.Trp8409Leu
XM_006715420.2:c.25214G>T	XP_006715483.1:p.Trp8405Leu
XM_006715421.2:c.25211G>T	XP_006715484.1:p.Trp8404Leu
XM_006715423.2:c.25367G>T	XP_006715486.1:p.Trp8456Leu
XM_006715424.2:c.25367G>T	XP_006715487.1:p.Trp8456Leu
XM_006715425.2:c.25298G>T	XP_006715488.1:p.Trp8433Leu
XM_011535641.2:c.25364G>T	XP_011533943.1:p.Trp8455Leu
XM_011535642.2:c.25352G>T	XP_011533944.1:p.Trp8451Leu
XM_011535645.2:c.23135G>T	XP_011533947.1:p.Trp7712Leu
XM_017010608.1:c.25367G>T	XP_016866097.1:p.Trp8456Leu
XM_017010609.1:c.25367G>T	XP_016866098.1:p.Trp8456Leu
XM_017010610.1:c.25346G>T	XP_016866099.1:p.Trp8449Leu
XM_017010611.2:c.25340G>T	XP_016866100.1:p.Trp8447Leu
XM_017010612.1:c.25289G>T	XP_016866101.1:p.Trp8430Leu
XM_017010613.1:c.25295G>T	XP_016866102.1:p.Trp8432Leu
XM_017010614.1:c.25211G>T	XP_016866103.1:p.Trp8404Leu
XM_017010615.1:c.25142G>T	XP_016866104.1:p.Trp8381Leu
XM_017010616.1:c.25298G>T	XP_016866105.1:p.Trp8433Leu
XM_017010617.1:c.25295G>T	XP_016866106.1:p.Trp8432Leu
XM_017010618.1:c.25283G>T	XP_016866107.1:p.Trp8428Leu
XM_017010619.1:c.23642G>T	XP_016866108.1:p.Trp7881Leu
NM_182961.4:c.25262G>T MANE Select	NP_892006.3:p.Trp8421Leu
NM_001347701.2:c.1868G>T	NP_001334630.1:p.Trp623Leu
NM_001347702.2:c.1796G>T MANE Plus Clinical	NP_001334631.1:p.Trp599Leu
NM_033071.5:c.25118G>T	NP_149062.2:p.Trp8373Leu