Canonical Allele Identifier: CA366086964

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152473161A>G (hg19) ; chr6:g.152152026A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152152026A>G , CM000668.2:g.152152026A>G	GRCh38
NC_000006.11:g.152473161A>G , CM000668.1:g.152473161A>G	GRCh37
NC_000006.10:g.152514854A>G	NCBI36
NG_012855.1:g.490374T>C
NG_012855.2:g.490374T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354674.5:c.710T>C MANE Plus Clinical	ENSP00000346701.4:p.Val237Ala
ENST00000367255.10:c.24245T>C MANE Select	ENSP00000356224.5:p.Val8082Ala
ENST00000423061.6:c.24032T>C	ENSP00000396024.1:p.Val8011Ala
ENST00000673173.1:c.159T>C
ENST00000673451.1:c.17T>C	ENSP00000500189.1:p.Val6Ala
ENST00000341594.9:c.23030T>C	ENSP00000341887.6:p.Val7677Ala
ENST00000347037.9:n.924T>C
ENST00000354674.4:c.710T>C	ENSP00000346701.4:p.Val237Ala
ENST00000367251.7:c.3011T>C	ENSP00000356220.3:p.Val1004Ala
ENST00000367255.9:c.24245T>C	ENSP00000356224.5:p.Val8082Ala
ENST00000367256.9:n.7937T>C
ENST00000367257.8:c.2183T>C	ENSP00000356226.4:p.Val728Ala
ENST00000409694.6:n.7829T>C
ENST00000423061.5:c.24032T>C	ENSP00000396024.1:p.Val8011Ala
ENST00000460912.6:n.790T>C
ENST00000476519.1:n.307T>C
ENST00000536990.5:n.1082T>C
ENST00000539504.5:c.710T>C	ENSP00000441052.1:p.Val237Ala
NM_033071.3:c.24032T>C	NP_149062.1:p.Val8011Ala
NM_182961.3:c.24245T>C	NP_892006.3:p.Val8082Ala
XM_006715407.1:c.24281T>C	XP_006715470.1:p.Val8094Ala
XM_006715408.1:c.24269T>C	XP_006715471.1:p.Val8090Ala
XM_006715409.1:c.24260T>C	XP_006715472.1:p.Val8087Ala
XM_006715410.1:c.24281T>C	XP_006715473.1:p.Val8094Ala
XM_006715411.1:c.24230T>C	XP_006715474.1:p.Val8077Ala
XM_006715412.1:c.24266T>C	XP_006715475.1:p.Val8089Ala
XM_006715413.1:c.24281T>C	XP_006715476.1:p.Val8094Ala
XM_006715414.1:c.24209T>C	XP_006715477.1:p.Val8070Ala
XM_006715415.1:c.24281T>C	XP_006715478.1:p.Val8094Ala
XM_006715416.1:c.24266T>C	XP_006715479.1:p.Val8089Ala
XM_006715417.1:c.24140T>C	XP_006715480.1:p.Val8047Ala
XM_006715420.1:c.24128T>C	XP_006715483.1:p.Val8043Ala
XM_006715421.1:c.24125T>C	XP_006715484.1:p.Val8042Ala
XM_006715422.1:c.24122T>C	XP_006715485.1:p.Val8041Ala
XM_006715423.1:c.24281T>C	XP_006715486.1:p.Val8094Ala
XM_006715424.1:c.24281T>C	XP_006715487.1:p.Val8094Ala
XM_006715425.1:c.24281T>C	XP_006715488.1:p.Val8094Ala
XM_011535641.1:c.24278T>C	XP_011533943.1:p.Val8093Ala
XM_011535642.1:c.24266T>C	XP_011533944.1:p.Val8089Ala
XM_011535643.1:c.24116T>C	XP_011533945.1:p.Val8039Ala
XM_011535644.1:c.22556T>C	XP_011533946.1:p.Val7519Ala
XM_011535645.1:c.22049T>C	XP_011533947.1:p.Val7350Ala
XM_011535647.1:c.17516T>C	XP_011533949.1:p.Val5839Ala
NM_001347701.1:c.851T>C	NP_001334630.1:p.Val284Ala
NM_001347702.1:c.710T>C	NP_001334631.1:p.Val237Ala
XM_006715408.2:c.24269T>C	XP_006715471.1:p.Val8090Ala
XM_006715410.2:c.24281T>C	XP_006715473.1:p.Val8094Ala
XM_006715412.2:c.24266T>C	XP_006715475.1:p.Val8089Ala
XM_006715413.2:c.24281T>C	XP_006715476.1:p.Val8094Ala
XM_006715415.2:c.24281T>C	XP_006715478.1:p.Val8094Ala
XM_006715416.2:c.24266T>C	XP_006715479.1:p.Val8089Ala
XM_006715417.2:c.24140T>C	XP_006715480.1:p.Val8047Ala
XM_006715420.2:c.24128T>C	XP_006715483.1:p.Val8043Ala
XM_006715421.2:c.24125T>C	XP_006715484.1:p.Val8042Ala
XM_006715423.2:c.24281T>C	XP_006715486.1:p.Val8094Ala
XM_006715424.2:c.24281T>C	XP_006715487.1:p.Val8094Ala
XM_006715425.2:c.24281T>C	XP_006715488.1:p.Val8094Ala
XM_011535641.2:c.24278T>C	XP_011533943.1:p.Val8093Ala
XM_011535642.2:c.24266T>C	XP_011533944.1:p.Val8089Ala
XM_011535645.2:c.22049T>C	XP_011533947.1:p.Val7350Ala
XM_017010608.1:c.24281T>C	XP_016866097.1:p.Val8094Ala
XM_017010609.1:c.24281T>C	XP_016866098.1:p.Val8094Ala
XM_017010610.1:c.24260T>C	XP_016866099.1:p.Val8087Ala
XM_017010611.2:c.24254T>C	XP_016866100.1:p.Val8085Ala
XM_017010612.1:c.24203T>C	XP_016866101.1:p.Val8068Ala
XM_017010613.1:c.24278T>C	XP_016866102.1:p.Val8093Ala
XM_017010614.1:c.24125T>C	XP_016866103.1:p.Val8042Ala
XM_017010615.1:c.24125T>C	XP_016866104.1:p.Val8042Ala
XM_017010616.1:c.24281T>C	XP_016866105.1:p.Val8094Ala
XM_017010617.1:c.24278T>C	XP_016866106.1:p.Val8093Ala
XM_017010618.1:c.24266T>C	XP_016866107.1:p.Val8089Ala
XM_017010619.1:c.22556T>C	XP_016866108.1:p.Val7519Ala
NM_182961.4:c.24245T>C MANE Select	NP_892006.3:p.Val8082Ala
NM_001347701.2:c.851T>C	NP_001334630.1:p.Val284Ala
NM_001347702.2:c.710T>C MANE Plus Clinical	NP_001334631.1:p.Val237Ala
NM_033071.5:c.24032T>C	NP_149062.2:p.Val8011Ala