Canonical Allele Identifier: CA366138816

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152577874C>A (hg19) ; chr6:g.152256739C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152256739C>A , CM000668.2:g.152256739C>A	GRCh38
NC_000006.11:g.152577874C>A , CM000668.1:g.152577874C>A	GRCh37
NC_000006.10:g.152619567C>A	NCBI36
NG_012855.1:g.385661G>T
NG_012855.2:g.385661G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.18999G>T MANE Select	ENSP00000356224.5:p.Leu6333Phe
ENST00000423061.6:c.18786G>T	ENSP00000396024.1:p.Leu6262Phe
ENST00000341594.9:c.17784G>T	ENSP00000341887.6:p.Leu5928Phe
ENST00000367255.9:c.18999G>T	ENSP00000356224.5:p.Leu6333Phe
ENST00000367256.9:n.2691G>T
ENST00000409694.6:n.2583G>T
ENST00000423061.5:c.18786G>T	ENSP00000396024.1:p.Leu6262Phe
ENST00000545694.1:n.300G>T
NM_033071.3:c.18786G>T	NP_149062.1:p.Leu6262Phe
NM_182961.3:c.18999G>T	NP_892006.3:p.Leu6333Phe
XM_006715407.1:c.19035G>T	XP_006715470.1:p.Leu6345Phe
XM_006715408.1:c.19023G>T	XP_006715471.1:p.Leu6341Phe
XM_006715409.1:c.19014G>T	XP_006715472.1:p.Leu6338Phe
XM_006715410.1:c.19035G>T	XP_006715473.1:p.Leu6345Phe
XM_006715411.1:c.18984G>T	XP_006715474.1:p.Leu6328Phe
XM_006715412.1:c.19020G>T	XP_006715475.1:p.Leu6340Phe
XM_006715413.1:c.19035G>T	XP_006715476.1:p.Leu6345Phe
XM_006715414.1:c.18963G>T	XP_006715477.1:p.Leu6321Phe
XM_006715415.1:c.19035G>T	XP_006715478.1:p.Leu6345Phe
XM_006715416.1:c.19020G>T	XP_006715479.1:p.Leu6340Phe
XM_006715417.1:c.18894G>T	XP_006715480.1:p.Leu6298Phe
XM_006715420.1:c.18882G>T	XP_006715483.1:p.Leu6294Phe
XM_006715421.1:c.18879G>T	XP_006715484.1:p.Leu6293Phe
XM_006715422.1:c.18876G>T	XP_006715485.1:p.Leu6292Phe
XM_006715423.1:c.19035G>T	XP_006715486.1:p.Leu6345Phe
XM_006715424.1:c.19035G>T	XP_006715487.1:p.Leu6345Phe
XM_006715425.1:c.19035G>T	XP_006715488.1:p.Leu6345Phe
XM_011535641.1:c.19032G>T	XP_011533943.1:p.Leu6344Phe
XM_011535642.1:c.19020G>T	XP_011533944.1:p.Leu6340Phe
XM_011535643.1:c.18870G>T	XP_011533945.1:p.Leu6290Phe
XM_011535644.1:c.17310G>T	XP_011533946.1:p.Leu5770Phe
XM_011535645.1:c.16803G>T	XP_011533947.1:p.Leu5601Phe
XM_011535646.1:c.19035G>T	XP_011533948.1:p.Leu6345Phe
XM_011535647.1:c.12270G>T	XP_011533949.1:p.Leu4090Phe
XM_006715408.2:c.19023G>T	XP_006715471.1:p.Leu6341Phe
XM_006715410.2:c.19035G>T	XP_006715473.1:p.Leu6345Phe
XM_006715412.2:c.19020G>T	XP_006715475.1:p.Leu6340Phe
XM_006715413.2:c.19035G>T	XP_006715476.1:p.Leu6345Phe
XM_006715415.2:c.19035G>T	XP_006715478.1:p.Leu6345Phe
XM_006715416.2:c.19020G>T	XP_006715479.1:p.Leu6340Phe
XM_006715417.2:c.18894G>T	XP_006715480.1:p.Leu6298Phe
XM_006715420.2:c.18882G>T	XP_006715483.1:p.Leu6294Phe
XM_006715421.2:c.18879G>T	XP_006715484.1:p.Leu6293Phe
XM_006715423.2:c.19035G>T	XP_006715486.1:p.Leu6345Phe
XM_006715424.2:c.19035G>T	XP_006715487.1:p.Leu6345Phe
XM_006715425.2:c.19035G>T	XP_006715488.1:p.Leu6345Phe
XM_011535641.2:c.19032G>T	XP_011533943.1:p.Leu6344Phe
XM_011535642.2:c.19020G>T	XP_011533944.1:p.Leu6340Phe
XM_011535645.2:c.16803G>T	XP_011533947.1:p.Leu5601Phe
XM_017010608.1:c.19035G>T	XP_016866097.1:p.Leu6345Phe
XM_017010609.1:c.19035G>T	XP_016866098.1:p.Leu6345Phe
XM_017010610.1:c.19014G>T	XP_016866099.1:p.Leu6338Phe
XM_017010611.2:c.19008G>T	XP_016866100.1:p.Leu6336Phe
XM_017010612.1:c.18957G>T	XP_016866101.1:p.Leu6319Phe
XM_017010613.1:c.19032G>T	XP_016866102.1:p.Leu6344Phe
XM_017010614.1:c.18879G>T	XP_016866103.1:p.Leu6293Phe
XM_017010615.1:c.18879G>T	XP_016866104.1:p.Leu6293Phe
XM_017010616.1:c.19035G>T	XP_016866105.1:p.Leu6345Phe
XM_017010617.1:c.19032G>T	XP_016866106.1:p.Leu6344Phe
XM_017010618.1:c.19020G>T	XP_016866107.1:p.Leu6340Phe
XM_017010619.1:c.17310G>T	XP_016866108.1:p.Leu5770Phe
XR_001743287.1:n.19518G>T
NM_182961.4:c.18999G>T MANE Select	NP_892006.3:p.Leu6333Phe
NM_033071.5:c.18786G>T	NP_149062.2:p.Leu6262Phe