Canonical Allele Identifier: CA366099455

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152534856A>C (hg19) ; chr6:g.152213721A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152213721A>C , CM000668.2:g.152213721A>C	GRCh38
NC_000006.11:g.152534856A>C , CM000668.1:g.152534856A>C	GRCh37
NC_000006.10:g.152576549A>C	NCBI36
NG_012855.1:g.428679T>G
NG_012855.2:g.428679T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.22385T>G MANE Select	ENSP00000356224.5:p.Leu7462Trp
ENST00000423061.6:c.22172T>G	ENSP00000396024.1:p.Leu7391Trp
ENST00000341594.9:c.21170T>G	ENSP00000341887.6:p.Leu7057Trp
ENST00000367251.7:c.1151T>G	ENSP00000356220.3:p.Leu384Trp
ENST00000367255.9:c.22385T>G	ENSP00000356224.5:p.Leu7462Trp
ENST00000367256.9:n.6077T>G
ENST00000367257.8:c.323T>G	ENSP00000356226.4:p.Leu108Trp
ENST00000409694.6:n.5969T>G
ENST00000423061.5:c.22172T>G	ENSP00000396024.1:p.Leu7391Trp
NM_033071.3:c.22172T>G	NP_149062.1:p.Leu7391Trp
NM_182961.3:c.22385T>G	NP_892006.3:p.Leu7462Trp
XM_006715407.1:c.22421T>G	XP_006715470.1:p.Leu7474Trp
XM_006715408.1:c.22409T>G	XP_006715471.1:p.Leu7470Trp
XM_006715409.1:c.22400T>G	XP_006715472.1:p.Leu7467Trp
XM_006715410.1:c.22421T>G	XP_006715473.1:p.Leu7474Trp
XM_006715411.1:c.22370T>G	XP_006715474.1:p.Leu7457Trp
XM_006715412.1:c.22406T>G	XP_006715475.1:p.Leu7469Trp
XM_006715413.1:c.22421T>G	XP_006715476.1:p.Leu7474Trp
XM_006715414.1:c.22349T>G	XP_006715477.1:p.Leu7450Trp
XM_006715415.1:c.22421T>G	XP_006715478.1:p.Leu7474Trp
XM_006715416.1:c.22406T>G	XP_006715479.1:p.Leu7469Trp
XM_006715417.1:c.22280T>G	XP_006715480.1:p.Leu7427Trp
XM_006715420.1:c.22268T>G	XP_006715483.1:p.Leu7423Trp
XM_006715421.1:c.22265T>G	XP_006715484.1:p.Leu7422Trp
XM_006715422.1:c.22262T>G	XP_006715485.1:p.Leu7421Trp
XM_006715423.1:c.22421T>G	XP_006715486.1:p.Leu7474Trp
XM_006715424.1:c.22421T>G	XP_006715487.1:p.Leu7474Trp
XM_006715425.1:c.22421T>G	XP_006715488.1:p.Leu7474Trp
XM_011535641.1:c.22418T>G	XP_011533943.1:p.Leu7473Trp
XM_011535642.1:c.22406T>G	XP_011533944.1:p.Leu7469Trp
XM_011535643.1:c.22256T>G	XP_011533945.1:p.Leu7419Trp
XM_011535644.1:c.20696T>G	XP_011533946.1:p.Leu6899Trp
XM_011535645.1:c.20189T>G	XP_011533947.1:p.Leu6730Trp
XM_011535647.1:c.15656T>G	XP_011533949.1:p.Leu5219Trp
XM_006715408.2:c.22409T>G	XP_006715471.1:p.Leu7470Trp
XM_006715410.2:c.22421T>G	XP_006715473.1:p.Leu7474Trp
XM_006715412.2:c.22406T>G	XP_006715475.1:p.Leu7469Trp
XM_006715413.2:c.22421T>G	XP_006715476.1:p.Leu7474Trp
XM_006715415.2:c.22421T>G	XP_006715478.1:p.Leu7474Trp
XM_006715416.2:c.22406T>G	XP_006715479.1:p.Leu7469Trp
XM_006715417.2:c.22280T>G	XP_006715480.1:p.Leu7427Trp
XM_006715420.2:c.22268T>G	XP_006715483.1:p.Leu7423Trp
XM_006715421.2:c.22265T>G	XP_006715484.1:p.Leu7422Trp
XM_006715423.2:c.22421T>G	XP_006715486.1:p.Leu7474Trp
XM_006715424.2:c.22421T>G	XP_006715487.1:p.Leu7474Trp
XM_006715425.2:c.22421T>G	XP_006715488.1:p.Leu7474Trp
XM_011535641.2:c.22418T>G	XP_011533943.1:p.Leu7473Trp
XM_011535642.2:c.22406T>G	XP_011533944.1:p.Leu7469Trp
XM_011535645.2:c.20189T>G	XP_011533947.1:p.Leu6730Trp
XM_017010608.1:c.22421T>G	XP_016866097.1:p.Leu7474Trp
XM_017010609.1:c.22421T>G	XP_016866098.1:p.Leu7474Trp
XM_017010610.1:c.22400T>G	XP_016866099.1:p.Leu7467Trp
XM_017010611.2:c.22394T>G	XP_016866100.1:p.Leu7465Trp
XM_017010612.1:c.22343T>G	XP_016866101.1:p.Leu7448Trp
XM_017010613.1:c.22418T>G	XP_016866102.1:p.Leu7473Trp
XM_017010614.1:c.22265T>G	XP_016866103.1:p.Leu7422Trp
XM_017010615.1:c.22265T>G	XP_016866104.1:p.Leu7422Trp
XM_017010616.1:c.22421T>G	XP_016866105.1:p.Leu7474Trp
XM_017010617.1:c.22418T>G	XP_016866106.1:p.Leu7473Trp
XM_017010618.1:c.22406T>G	XP_016866107.1:p.Leu7469Trp
XM_017010619.1:c.20696T>G	XP_016866108.1:p.Leu6899Trp
NM_182961.4:c.22385T>G MANE Select	NP_892006.3:p.Leu7462Trp
NM_033071.5:c.22172T>G	NP_149062.2:p.Leu7391Trp