Canonical Allele Identifier: CA366122266
Gene: SYNE1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152236213C>T , CM000668.2:g.152236213C>T GRCh38
NC_000006.11:g.152557348C>T , CM000668.1:g.152557348C>T GRCh37
NC_000006.10:g.152599041C>T NCBI36
NG_012855.1:g.406187G>A
NG_012855.2:g.406187G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000367255.10:c.20290G>A MANE Select ENSP00000356224.5:p.Asp6764Asn
ENST00000423061.6:c.20077G>A ENSP00000396024.1:p.Asp6693Asn
ENST00000341594.9:c.19075G>A ENSP00000341887.6:p.Asp6359Asn
ENST00000367255.9:c.20290G>A ENSP00000356224.5:p.Asp6764Asn
ENST00000367256.9:n.3982G>A
ENST00000409694.6:n.3874G>A
ENST00000423061.5:c.20077G>A ENSP00000396024.1:p.Asp6693Asn
NM_033071.3:c.20077G>A NP_149062.1:p.Asp6693Asn
NM_182961.3:c.20290G>A NP_892006.3:p.Asp6764Asn
XM_006715407.1:c.20326G>A XP_006715470.1:p.Asp6776Asn
XM_006715408.1:c.20314G>A XP_006715471.1:p.Asp6772Asn
XM_006715409.1:c.20305G>A XP_006715472.1:p.Asp6769Asn
XM_006715410.1:c.20326G>A XP_006715473.1:p.Asp6776Asn
XM_006715411.1:c.20275G>A XP_006715474.1:p.Asp6759Asn
XM_006715412.1:c.20311G>A XP_006715475.1:p.Asp6771Asn
XM_006715413.1:c.20326G>A XP_006715476.1:p.Asp6776Asn
XM_006715414.1:c.20254G>A XP_006715477.1:p.Asp6752Asn
XM_006715415.1:c.20326G>A XP_006715478.1:p.Asp6776Asn
XM_006715416.1:c.20311G>A XP_006715479.1:p.Asp6771Asn
XM_006715417.1:c.20185G>A XP_006715480.1:p.Asp6729Asn
XM_006715420.1:c.20173G>A XP_006715483.1:p.Asp6725Asn
XM_006715421.1:c.20170G>A XP_006715484.1:p.Asp6724Asn
XM_006715422.1:c.20167G>A XP_006715485.1:p.Asp6723Asn
XM_006715423.1:c.20326G>A XP_006715486.1:p.Asp6776Asn
XM_006715424.1:c.20326G>A XP_006715487.1:p.Asp6776Asn
XM_006715425.1:c.20326G>A XP_006715488.1:p.Asp6776Asn
XM_011535641.1:c.20323G>A XP_011533943.1:p.Asp6775Asn
XM_011535642.1:c.20311G>A XP_011533944.1:p.Asp6771Asn
XM_011535643.1:c.20161G>A XP_011533945.1:p.Asp6721Asn
XM_011535644.1:c.18601G>A XP_011533946.1:p.Asp6201Asn
XM_011535645.1:c.18094G>A XP_011533947.1:p.Asp6032Asn
XM_011535647.1:c.13561G>A XP_011533949.1:p.Asp4521Asn
XM_006715408.2:c.20314G>A XP_006715471.1:p.Asp6772Asn
XM_006715410.2:c.20326G>A XP_006715473.1:p.Asp6776Asn
XM_006715412.2:c.20311G>A XP_006715475.1:p.Asp6771Asn
XM_006715413.2:c.20326G>A XP_006715476.1:p.Asp6776Asn
XM_006715415.2:c.20326G>A XP_006715478.1:p.Asp6776Asn
XM_006715416.2:c.20311G>A XP_006715479.1:p.Asp6771Asn
XM_006715417.2:c.20185G>A XP_006715480.1:p.Asp6729Asn
XM_006715420.2:c.20173G>A XP_006715483.1:p.Asp6725Asn
XM_006715421.2:c.20170G>A XP_006715484.1:p.Asp6724Asn
XM_006715423.2:c.20326G>A XP_006715486.1:p.Asp6776Asn
XM_006715424.2:c.20326G>A XP_006715487.1:p.Asp6776Asn
XM_006715425.2:c.20326G>A XP_006715488.1:p.Asp6776Asn
XM_011535641.2:c.20323G>A XP_011533943.1:p.Asp6775Asn
XM_011535642.2:c.20311G>A XP_011533944.1:p.Asp6771Asn
XM_011535645.2:c.18094G>A XP_011533947.1:p.Asp6032Asn
XM_017010608.1:c.20326G>A XP_016866097.1:p.Asp6776Asn
XM_017010609.1:c.20326G>A XP_016866098.1:p.Asp6776Asn
XM_017010610.1:c.20305G>A XP_016866099.1:p.Asp6769Asn
XM_017010611.2:c.20299G>A XP_016866100.1:p.Asp6767Asn
XM_017010612.1:c.20248G>A XP_016866101.1:p.Asp6750Asn
XM_017010613.1:c.20323G>A XP_016866102.1:p.Asp6775Asn
XM_017010614.1:c.20170G>A XP_016866103.1:p.Asp6724Asn
XM_017010615.1:c.20170G>A XP_016866104.1:p.Asp6724Asn
XM_017010616.1:c.20326G>A XP_016866105.1:p.Asp6776Asn
XM_017010617.1:c.20323G>A XP_016866106.1:p.Asp6775Asn
XM_017010618.1:c.20311G>A XP_016866107.1:p.Asp6771Asn
XM_017010619.1:c.18601G>A XP_016866108.1:p.Asp6201Asn
NM_182961.4:c.20290G>A MANE Select NP_892006.3:p.Asp6764Asn
NM_033071.5:c.20077G>A NP_149062.2:p.Asp6693Asn