Canonical Allele Identifier: CA4054484

Gene: SYNE1

Linked Data

• ClinVar Variation Id: 290455
• ClinVar RCV Id: RCV000361906 ; RCV000792010 ; RCV001155832 ; RCV001155831
• dbSNP Id: rs367790193
• ExAC: 6:152557992 T / G
• gnomAD v2: 6-152557992-T-G
• gnomAD v3: 6-152236857-T-G
• gnomAD v4: 6-152236857-T-G
• MyVariant Identifiers: chr6:g.152557992T>G (hg19) ; chr6:g.152236857T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152236857T>G , CM000668.2:g.152236857T>G	GRCh38
NC_000006.11:g.152557992T>G , CM000668.1:g.152557992T>G	GRCh37
NC_000006.10:g.152599685T>G	NCBI36
NG_012855.1:g.405543A>C
NG_012855.2:g.405543A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367255.10:c.20159A>C MANE Select	ENSP00000356224.5:p.Glu6720Ala
ENST00000423061.6:c.19946A>C	ENSP00000396024.1:p.Glu6649Ala
ENST00000341594.9:c.18944A>C	ENSP00000341887.6:p.Glu6315Ala
ENST00000367255.9:c.20159A>C	ENSP00000356224.5:p.Glu6720Ala
ENST00000367256.9:n.3851A>C
ENST00000409694.6:n.3743A>C
ENST00000423061.5:c.19946A>C	ENSP00000396024.1:p.Glu6649Ala
NM_033071.3:c.19946A>C	NP_149062.1:p.Glu6649Ala
NM_182961.3:c.20159A>C	NP_892006.3:p.Glu6720Ala
XM_006715407.1:c.20195A>C	XP_006715470.1:p.Glu6732Ala
XM_006715408.1:c.20183A>C	XP_006715471.1:p.Glu6728Ala
XM_006715409.1:c.20174A>C	XP_006715472.1:p.Glu6725Ala
XM_006715410.1:c.20195A>C	XP_006715473.1:p.Glu6732Ala
XM_006715411.1:c.20144A>C	XP_006715474.1:p.Glu6715Ala
XM_006715412.1:c.20180A>C	XP_006715475.1:p.Glu6727Ala
XM_006715413.1:c.20195A>C	XP_006715476.1:p.Glu6732Ala
XM_006715414.1:c.20123A>C	XP_006715477.1:p.Glu6708Ala
XM_006715415.1:c.20195A>C	XP_006715478.1:p.Glu6732Ala
XM_006715416.1:c.20180A>C	XP_006715479.1:p.Glu6727Ala
XM_006715417.1:c.20054A>C	XP_006715480.1:p.Glu6685Ala
XM_006715420.1:c.20042A>C	XP_006715483.1:p.Glu6681Ala
XM_006715421.1:c.20039A>C	XP_006715484.1:p.Glu6680Ala
XM_006715422.1:c.20036A>C	XP_006715485.1:p.Glu6679Ala
XM_006715423.1:c.20195A>C	XP_006715486.1:p.Glu6732Ala
XM_006715424.1:c.20195A>C	XP_006715487.1:p.Glu6732Ala
XM_006715425.1:c.20195A>C	XP_006715488.1:p.Glu6732Ala
XM_011535641.1:c.20192A>C	XP_011533943.1:p.Glu6731Ala
XM_011535642.1:c.20180A>C	XP_011533944.1:p.Glu6727Ala
XM_011535643.1:c.20030A>C	XP_011533945.1:p.Glu6677Ala
XM_011535644.1:c.18470A>C	XP_011533946.1:p.Glu6157Ala
XM_011535645.1:c.17963A>C	XP_011533947.1:p.Glu5988Ala
XM_011535647.1:c.13430A>C	XP_011533949.1:p.Glu4477Ala
XM_006715408.2:c.20183A>C	XP_006715471.1:p.Glu6728Ala
XM_006715410.2:c.20195A>C	XP_006715473.1:p.Glu6732Ala
XM_006715412.2:c.20180A>C	XP_006715475.1:p.Glu6727Ala
XM_006715413.2:c.20195A>C	XP_006715476.1:p.Glu6732Ala
XM_006715415.2:c.20195A>C	XP_006715478.1:p.Glu6732Ala
XM_006715416.2:c.20180A>C	XP_006715479.1:p.Glu6727Ala
XM_006715417.2:c.20054A>C	XP_006715480.1:p.Glu6685Ala
XM_006715420.2:c.20042A>C	XP_006715483.1:p.Glu6681Ala
XM_006715421.2:c.20039A>C	XP_006715484.1:p.Glu6680Ala
XM_006715423.2:c.20195A>C	XP_006715486.1:p.Glu6732Ala
XM_006715424.2:c.20195A>C	XP_006715487.1:p.Glu6732Ala
XM_006715425.2:c.20195A>C	XP_006715488.1:p.Glu6732Ala
XM_011535641.2:c.20192A>C	XP_011533943.1:p.Glu6731Ala
XM_011535642.2:c.20180A>C	XP_011533944.1:p.Glu6727Ala
XM_011535645.2:c.17963A>C	XP_011533947.1:p.Glu5988Ala
XM_017010608.1:c.20195A>C	XP_016866097.1:p.Glu6732Ala
XM_017010609.1:c.20195A>C	XP_016866098.1:p.Glu6732Ala
XM_017010610.1:c.20174A>C	XP_016866099.1:p.Glu6725Ala
XM_017010611.2:c.20168A>C	XP_016866100.1:p.Glu6723Ala
XM_017010612.1:c.20117A>C	XP_016866101.1:p.Glu6706Ala
XM_017010613.1:c.20192A>C	XP_016866102.1:p.Glu6731Ala
XM_017010614.1:c.20039A>C	XP_016866103.1:p.Glu6680Ala
XM_017010615.1:c.20039A>C	XP_016866104.1:p.Glu6680Ala
XM_017010616.1:c.20195A>C	XP_016866105.1:p.Glu6732Ala
XM_017010617.1:c.20192A>C	XP_016866106.1:p.Glu6731Ala
XM_017010618.1:c.20180A>C	XP_016866107.1:p.Glu6727Ala
XM_017010619.1:c.18470A>C	XP_016866108.1:p.Glu6157Ala
NM_182961.4:c.20159A>C MANE Select	NP_892006.3:p.Glu6720Ala
NM_033071.5:c.19946A>C	NP_149062.2:p.Glu6649Ala