Canonical Allele Identifier: CA366098592

Gene: SYNE1

Linked Data

• gnomAD v4: 6-152330518-C-A
• MyVariant Identifiers: chr6:g.152651653C>A (hg19) ; chr6:g.152330518C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152330518C>A , CM000668.2:g.152330518C>A	GRCh38
NC_000006.11:g.152651653C>A , CM000668.1:g.152651653C>A	GRCh37
NC_000006.10:g.152693346C>A	NCBI36
NG_012855.1:g.311882G>T
NG_012855.2:g.311882G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.14167G>T MANE Select	ENSP00000356224.5:p.Val4723Leu
ENST00000423061.6:c.13954G>T	ENSP00000396024.1:p.Val4652Leu
ENST00000341594.9:c.13357G>T	ENSP00000341887.6:p.Val4453Leu
ENST00000367255.9:c.14167G>T	ENSP00000356224.5:p.Val4723Leu
ENST00000423061.5:c.13954G>T	ENSP00000396024.1:p.Val4652Leu
ENST00000448038.2:c.-1752G>T	ENSP00000390975.2:n.-1752G>T
ENST00000490135.6:n.1513G>T
NM_033071.3:c.13954G>T	NP_149062.1:p.Val4652Leu
NM_182961.3:c.14167G>T	NP_892006.3:p.Val4723Leu
XM_006715407.1:c.14188G>T	XP_006715470.1:p.Val4730Leu
XM_006715408.1:c.14188G>T	XP_006715471.1:p.Val4730Leu
XM_006715409.1:c.14167G>T	XP_006715472.1:p.Val4723Leu
XM_006715410.1:c.14188G>T	XP_006715473.1:p.Val4730Leu
XM_006715411.1:c.14137G>T	XP_006715474.1:p.Val4713Leu
XM_006715412.1:c.14188G>T	XP_006715475.1:p.Val4730Leu
XM_006715413.1:c.14188G>T	XP_006715476.1:p.Val4730Leu
XM_006715414.1:c.14116G>T	XP_006715477.1:p.Val4706Leu
XM_006715415.1:c.14188G>T	XP_006715478.1:p.Val4730Leu
XM_006715416.1:c.14188G>T	XP_006715479.1:p.Val4730Leu
XM_006715417.1:c.14188G>T	XP_006715480.1:p.Val4730Leu
XM_006715420.1:c.14188G>T	XP_006715483.1:p.Val4730Leu
XM_006715421.1:c.14032G>T	XP_006715484.1:p.Val4678Leu
XM_006715422.1:c.14029G>T	XP_006715485.1:p.Val4677Leu
XM_006715423.1:c.14188G>T	XP_006715486.1:p.Val4730Leu
XM_006715424.1:c.14188G>T	XP_006715487.1:p.Val4730Leu
XM_006715425.1:c.14188G>T	XP_006715488.1:p.Val4730Leu
XM_011535641.1:c.14188G>T	XP_011533943.1:p.Val4730Leu
XM_011535642.1:c.14188G>T	XP_011533944.1:p.Val4730Leu
XM_011535643.1:c.14023G>T	XP_011533945.1:p.Val4675Leu
XM_011535644.1:c.12463G>T	XP_011533946.1:p.Val4155Leu
XM_011535645.1:c.11956G>T	XP_011533947.1:p.Val3986Leu
XM_011535646.1:c.14188G>T	XP_011533948.1:p.Val4730Leu
XM_011535647.1:c.7423G>T	XP_011533949.1:p.Val2475Leu
XM_006715408.2:c.14188G>T	XP_006715471.1:p.Val4730Leu
XM_006715410.2:c.14188G>T	XP_006715473.1:p.Val4730Leu
XM_006715412.2:c.14188G>T	XP_006715475.1:p.Val4730Leu
XM_006715413.2:c.14188G>T	XP_006715476.1:p.Val4730Leu
XM_006715415.2:c.14188G>T	XP_006715478.1:p.Val4730Leu
XM_006715416.2:c.14188G>T	XP_006715479.1:p.Val4730Leu
XM_006715417.2:c.14188G>T	XP_006715480.1:p.Val4730Leu
XM_006715420.2:c.14188G>T	XP_006715483.1:p.Val4730Leu
XM_006715421.2:c.14032G>T	XP_006715484.1:p.Val4678Leu
XM_006715423.2:c.14188G>T	XP_006715486.1:p.Val4730Leu
XM_006715424.2:c.14188G>T	XP_006715487.1:p.Val4730Leu
XM_006715425.2:c.14188G>T	XP_006715488.1:p.Val4730Leu
XM_011535641.2:c.14188G>T	XP_011533943.1:p.Val4730Leu
XM_011535642.2:c.14188G>T	XP_011533944.1:p.Val4730Leu
XM_011535645.2:c.11956G>T	XP_011533947.1:p.Val3986Leu
XM_017010608.1:c.14188G>T	XP_016866097.1:p.Val4730Leu
XM_017010609.1:c.14188G>T	XP_016866098.1:p.Val4730Leu
XM_017010610.1:c.14167G>T	XP_016866099.1:p.Val4723Leu
XM_017010611.2:c.14161G>T	XP_016866100.1:p.Val4721Leu
XM_017010612.1:c.14110G>T	XP_016866101.1:p.Val4704Leu
XM_017010613.1:c.14188G>T	XP_016866102.1:p.Val4730Leu
XM_017010614.1:c.14188G>T	XP_016866103.1:p.Val4730Leu
XM_017010615.1:c.14188G>T	XP_016866104.1:p.Val4730Leu
XM_017010616.1:c.14188G>T	XP_016866105.1:p.Val4730Leu
XM_017010617.1:c.14188G>T	XP_016866106.1:p.Val4730Leu
XM_017010618.1:c.14188G>T	XP_016866107.1:p.Val4730Leu
XM_017010619.1:c.12463G>T	XP_016866108.1:p.Val4155Leu
XR_001743287.1:n.14671G>T
NM_182961.4:c.14167G>T MANE Select	NP_892006.3:p.Val4723Leu
NM_033071.5:c.13954G>T	NP_149062.2:p.Val4652Leu