Canonical Allele Identifier: CA366137620

Gene: SYNE1

Linked Data

• MyVariant Identifiers: chr6:g.152690205C>G (hg19) ; chr6:g.152369070C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.152369070C>G , CM000668.2:g.152369070C>G	GRCh38
NC_000006.11:g.152690205C>G , CM000668.1:g.152690205C>G	GRCh37
NC_000006.10:g.152731898C>G	NCBI36
NG_012855.1:g.273330G>C
NG_012855.2:g.273330G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000454018.7:c.1060G>C	ENSP00000390858.4:p.Ala354Pro
ENST00000367255.10:c.9709G>C MANE Select	ENSP00000356224.5:p.Ala3237Pro
ENST00000423061.6:c.9730G>C	ENSP00000396024.1:p.Ala3244Pro
ENST00000341594.9:c.9775G>C	ENSP00000341887.6:p.Ala3259Pro
ENST00000367255.9:c.9709G>C	ENSP00000356224.5:p.Ala3237Pro
ENST00000423061.5:c.9730G>C	ENSP00000396024.1:p.Ala3244Pro
ENST00000454018.6:c.1057G>C	ENSP00000390858.3:p.Ala353Pro
ENST00000469439.1:c.244+401G>C
ENST00000471834.1:n.1258G>C
NM_033071.3:c.9730G>C	NP_149062.1:p.Ala3244Pro
NM_182961.3:c.9709G>C	NP_892006.3:p.Ala3237Pro
XM_006715407.1:c.9730G>C	XP_006715470.1:p.Ala3244Pro
XM_006715408.1:c.9730G>C	XP_006715471.1:p.Ala3244Pro
XM_006715409.1:c.9709G>C	XP_006715472.1:p.Ala3237Pro
XM_006715410.1:c.9730G>C	XP_006715473.1:p.Ala3244Pro
XM_006715411.1:c.9679G>C	XP_006715474.1:p.Ala3227Pro
XM_006715412.1:c.9730G>C	XP_006715475.1:p.Ala3244Pro
XM_006715413.1:c.9730G>C	XP_006715476.1:p.Ala3244Pro
XM_006715414.1:c.9658G>C	XP_006715477.1:p.Ala3220Pro
XM_006715415.1:c.9730G>C	XP_006715478.1:p.Ala3244Pro
XM_006715416.1:c.9730G>C	XP_006715479.1:p.Ala3244Pro
XM_006715417.1:c.9730G>C	XP_006715480.1:p.Ala3244Pro
XM_006715420.1:c.9730G>C	XP_006715483.1:p.Ala3244Pro
XM_006715421.1:c.9672+401G>C	XP_006715484.1:n.9672+401G>C
XM_006715422.1:c.9571G>C	XP_006715485.1:p.Ala3191Pro
XM_006715423.1:c.9730G>C	XP_006715486.1:p.Ala3244Pro
XM_006715424.1:c.9730G>C	XP_006715487.1:p.Ala3244Pro
XM_006715425.1:c.9730G>C	XP_006715488.1:p.Ala3244Pro
XM_011535641.1:c.9730G>C	XP_011533943.1:p.Ala3244Pro
XM_011535642.1:c.9730G>C	XP_011533944.1:p.Ala3244Pro
XM_011535643.1:c.9565G>C	XP_011533945.1:p.Ala3189Pro
XM_011535644.1:c.8005G>C	XP_011533946.1:p.Ala2669Pro
XM_011535645.1:c.7498G>C	XP_011533947.1:p.Ala2500Pro
XM_011535646.1:c.9730G>C	XP_011533948.1:p.Ala3244Pro
XM_011535647.1:c.2965G>C	XP_011533949.1:p.Ala989Pro
XM_006715408.2:c.9730G>C	XP_006715471.1:p.Ala3244Pro
XM_006715410.2:c.9730G>C	XP_006715473.1:p.Ala3244Pro
XM_006715412.2:c.9730G>C	XP_006715475.1:p.Ala3244Pro
XM_006715413.2:c.9730G>C	XP_006715476.1:p.Ala3244Pro
XM_006715415.2:c.9730G>C	XP_006715478.1:p.Ala3244Pro
XM_006715416.2:c.9730G>C	XP_006715479.1:p.Ala3244Pro
XM_006715417.2:c.9730G>C	XP_006715480.1:p.Ala3244Pro
XM_006715420.2:c.9730G>C	XP_006715483.1:p.Ala3244Pro
XM_006715421.2:c.9672+401G>C	XP_006715484.1:n.9672+401G>C
XM_006715423.2:c.9730G>C	XP_006715486.1:p.Ala3244Pro
XM_006715424.2:c.9730G>C	XP_006715487.1:p.Ala3244Pro
XM_006715425.2:c.9730G>C	XP_006715488.1:p.Ala3244Pro
XM_011535641.2:c.9730G>C	XP_011533943.1:p.Ala3244Pro
XM_011535642.2:c.9730G>C	XP_011533944.1:p.Ala3244Pro
XM_011535645.2:c.7498G>C	XP_011533947.1:p.Ala2500Pro
XM_017010608.1:c.9730G>C	XP_016866097.1:p.Ala3244Pro
XM_017010609.1:c.9730G>C	XP_016866098.1:p.Ala3244Pro
XM_017010610.1:c.9709G>C	XP_016866099.1:p.Ala3237Pro
XM_017010611.2:c.9703G>C	XP_016866100.1:p.Ala3235Pro
XM_017010612.1:c.9652G>C	XP_016866101.1:p.Ala3218Pro
XM_017010613.1:c.9730G>C	XP_016866102.1:p.Ala3244Pro
XM_017010614.1:c.9730G>C	XP_016866103.1:p.Ala3244Pro
XM_017010615.1:c.9730G>C	XP_016866104.1:p.Ala3244Pro
XM_017010616.1:c.9730G>C	XP_016866105.1:p.Ala3244Pro
XM_017010617.1:c.9730G>C	XP_016866106.1:p.Ala3244Pro
XM_017010618.1:c.9730G>C	XP_016866107.1:p.Ala3244Pro
XM_017010619.1:c.8005G>C	XP_016866108.1:p.Ala2669Pro
XR_001743287.1:n.10213G>C
NM_182961.4:c.9709G>C MANE Select	NP_892006.3:p.Ala3237Pro
NM_033071.5:c.9730G>C	NP_149062.2:p.Ala3244Pro