Canonical Allele Identifier: CA4056074

Gene: SYNE1

Linked Data

• dbSNP Id: rs773140427
• ExAC: 6:152651727 C / A
• gnomAD v2: 6-152651727-C-A
• gnomAD v4: 6-152330592-C-A
• MyVariant Identifiers: chr6:g.152651727C>A (hg19) ; chr6:g.152330592C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152330592C>A , CM000668.2:g.152330592C>A	GRCh38
NC_000006.11:g.152651727C>A , CM000668.1:g.152651727C>A	GRCh37
NC_000006.10:g.152693420C>A	NCBI36
NG_012855.1:g.311808G>T
NG_012855.2:g.311808G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000367255.10:c.14093G>T MANE Select	ENSP00000356224.5:p.Ser4698Ile
ENST00000423061.6:c.13880G>T	ENSP00000396024.1:p.Ser4627Ile
ENST00000341594.9:c.13283G>T	ENSP00000341887.6:p.Ser4428Ile
ENST00000367255.9:c.14093G>T	ENSP00000356224.5:p.Ser4698Ile
ENST00000423061.5:c.13880G>T	ENSP00000396024.1:p.Ser4627Ile
ENST00000448038.2:c.-1826G>T	ENSP00000390975.2:n.-1826G>T
ENST00000490135.6:n.1439G>T
NM_033071.3:c.13880G>T	NP_149062.1:p.Ser4627Ile
NM_182961.3:c.14093G>T	NP_892006.3:p.Ser4698Ile
XM_006715407.1:c.14114G>T	XP_006715470.1:p.Ser4705Ile
XM_006715408.1:c.14114G>T	XP_006715471.1:p.Ser4705Ile
XM_006715409.1:c.14093G>T	XP_006715472.1:p.Ser4698Ile
XM_006715410.1:c.14114G>T	XP_006715473.1:p.Ser4705Ile
XM_006715411.1:c.14063G>T	XP_006715474.1:p.Ser4688Ile
XM_006715412.1:c.14114G>T	XP_006715475.1:p.Ser4705Ile
XM_006715413.1:c.14114G>T	XP_006715476.1:p.Ser4705Ile
XM_006715414.1:c.14042G>T	XP_006715477.1:p.Ser4681Ile
XM_006715415.1:c.14114G>T	XP_006715478.1:p.Ser4705Ile
XM_006715416.1:c.14114G>T	XP_006715479.1:p.Ser4705Ile
XM_006715417.1:c.14114G>T	XP_006715480.1:p.Ser4705Ile
XM_006715420.1:c.14114G>T	XP_006715483.1:p.Ser4705Ile
XM_006715421.1:c.13958G>T	XP_006715484.1:p.Ser4653Ile
XM_006715422.1:c.13955G>T	XP_006715485.1:p.Ser4652Ile
XM_006715423.1:c.14114G>T	XP_006715486.1:p.Ser4705Ile
XM_006715424.1:c.14114G>T	XP_006715487.1:p.Ser4705Ile
XM_006715425.1:c.14114G>T	XP_006715488.1:p.Ser4705Ile
XM_011535641.1:c.14114G>T	XP_011533943.1:p.Ser4705Ile
XM_011535642.1:c.14114G>T	XP_011533944.1:p.Ser4705Ile
XM_011535643.1:c.13949G>T	XP_011533945.1:p.Ser4650Ile
XM_011535644.1:c.12389G>T	XP_011533946.1:p.Ser4130Ile
XM_011535645.1:c.11882G>T	XP_011533947.1:p.Ser3961Ile
XM_011535646.1:c.14114G>T	XP_011533948.1:p.Ser4705Ile
XM_011535647.1:c.7349G>T	XP_011533949.1:p.Ser2450Ile
XM_006715408.2:c.14114G>T	XP_006715471.1:p.Ser4705Ile
XM_006715410.2:c.14114G>T	XP_006715473.1:p.Ser4705Ile
XM_006715412.2:c.14114G>T	XP_006715475.1:p.Ser4705Ile
XM_006715413.2:c.14114G>T	XP_006715476.1:p.Ser4705Ile
XM_006715415.2:c.14114G>T	XP_006715478.1:p.Ser4705Ile
XM_006715416.2:c.14114G>T	XP_006715479.1:p.Ser4705Ile
XM_006715417.2:c.14114G>T	XP_006715480.1:p.Ser4705Ile
XM_006715420.2:c.14114G>T	XP_006715483.1:p.Ser4705Ile
XM_006715421.2:c.13958G>T	XP_006715484.1:p.Ser4653Ile
XM_006715423.2:c.14114G>T	XP_006715486.1:p.Ser4705Ile
XM_006715424.2:c.14114G>T	XP_006715487.1:p.Ser4705Ile
XM_006715425.2:c.14114G>T	XP_006715488.1:p.Ser4705Ile
XM_011535641.2:c.14114G>T	XP_011533943.1:p.Ser4705Ile
XM_011535642.2:c.14114G>T	XP_011533944.1:p.Ser4705Ile
XM_011535645.2:c.11882G>T	XP_011533947.1:p.Ser3961Ile
XM_017010608.1:c.14114G>T	XP_016866097.1:p.Ser4705Ile
XM_017010609.1:c.14114G>T	XP_016866098.1:p.Ser4705Ile
XM_017010610.1:c.14093G>T	XP_016866099.1:p.Ser4698Ile
XM_017010611.2:c.14087G>T	XP_016866100.1:p.Ser4696Ile
XM_017010612.1:c.14036G>T	XP_016866101.1:p.Ser4679Ile
XM_017010613.1:c.14114G>T	XP_016866102.1:p.Ser4705Ile
XM_017010614.1:c.14114G>T	XP_016866103.1:p.Ser4705Ile
XM_017010615.1:c.14114G>T	XP_016866104.1:p.Ser4705Ile
XM_017010616.1:c.14114G>T	XP_016866105.1:p.Ser4705Ile
XM_017010617.1:c.14114G>T	XP_016866106.1:p.Ser4705Ile
XM_017010618.1:c.14114G>T	XP_016866107.1:p.Ser4705Ile
XM_017010619.1:c.12389G>T	XP_016866108.1:p.Ser4130Ile
XR_001743287.1:n.14597G>T
NM_182961.4:c.14093G>T MANE Select	NP_892006.3:p.Ser4698Ile
NM_033071.5:c.13880G>T	NP_149062.2:p.Ser4627Ile