Canonical Allele Identifier: CA366122262
Gene: SYNE1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000367255.10:c.20290G>T MANE Select ENSP00000356224.5:p.Asp6764Tyr
ENST00000423061.6:c.20077G>T ENSP00000396024.1:p.Asp6693Tyr
ENST00000341594.9:c.19075G>T ENSP00000341887.6:p.Asp6359Tyr
ENST00000367255.9:c.20290G>T ENSP00000356224.5:p.Asp6764Tyr
ENST00000367256.9:n.3982G>T
ENST00000409694.6:n.3874G>T
ENST00000423061.5:c.20077G>T ENSP00000396024.1:p.Asp6693Tyr
NM_033071.3:c.20077G>T NP_149062.1:p.Asp6693Tyr
NM_182961.3:c.20290G>T NP_892006.3:p.Asp6764Tyr
XM_006715407.1:c.20326G>T XP_006715470.1:p.Asp6776Tyr
XM_006715408.1:c.20314G>T XP_006715471.1:p.Asp6772Tyr
XM_006715409.1:c.20305G>T XP_006715472.1:p.Asp6769Tyr
XM_006715410.1:c.20326G>T XP_006715473.1:p.Asp6776Tyr
XM_006715411.1:c.20275G>T XP_006715474.1:p.Asp6759Tyr
XM_006715412.1:c.20311G>T XP_006715475.1:p.Asp6771Tyr
XM_006715413.1:c.20326G>T XP_006715476.1:p.Asp6776Tyr
XM_006715414.1:c.20254G>T XP_006715477.1:p.Asp6752Tyr
XM_006715415.1:c.20326G>T XP_006715478.1:p.Asp6776Tyr
XM_006715416.1:c.20311G>T XP_006715479.1:p.Asp6771Tyr
XM_006715417.1:c.20185G>T XP_006715480.1:p.Asp6729Tyr
XM_006715420.1:c.20173G>T XP_006715483.1:p.Asp6725Tyr
XM_006715421.1:c.20170G>T XP_006715484.1:p.Asp6724Tyr
XM_006715422.1:c.20167G>T XP_006715485.1:p.Asp6723Tyr
XM_006715423.1:c.20326G>T XP_006715486.1:p.Asp6776Tyr
XM_006715424.1:c.20326G>T XP_006715487.1:p.Asp6776Tyr
XM_006715425.1:c.20326G>T XP_006715488.1:p.Asp6776Tyr
XM_011535641.1:c.20323G>T XP_011533943.1:p.Asp6775Tyr
XM_011535642.1:c.20311G>T XP_011533944.1:p.Asp6771Tyr
XM_011535643.1:c.20161G>T XP_011533945.1:p.Asp6721Tyr
XM_011535644.1:c.18601G>T XP_011533946.1:p.Asp6201Tyr
XM_011535645.1:c.18094G>T XP_011533947.1:p.Asp6032Tyr
XM_011535647.1:c.13561G>T XP_011533949.1:p.Asp4521Tyr
XM_006715408.2:c.20314G>T XP_006715471.1:p.Asp6772Tyr
XM_006715410.2:c.20326G>T XP_006715473.1:p.Asp6776Tyr
XM_006715412.2:c.20311G>T XP_006715475.1:p.Asp6771Tyr
XM_006715413.2:c.20326G>T XP_006715476.1:p.Asp6776Tyr
XM_006715415.2:c.20326G>T XP_006715478.1:p.Asp6776Tyr
XM_006715416.2:c.20311G>T XP_006715479.1:p.Asp6771Tyr
XM_006715417.2:c.20185G>T XP_006715480.1:p.Asp6729Tyr
XM_006715420.2:c.20173G>T XP_006715483.1:p.Asp6725Tyr
XM_006715421.2:c.20170G>T XP_006715484.1:p.Asp6724Tyr
XM_006715423.2:c.20326G>T XP_006715486.1:p.Asp6776Tyr
XM_006715424.2:c.20326G>T XP_006715487.1:p.Asp6776Tyr
XM_006715425.2:c.20326G>T XP_006715488.1:p.Asp6776Tyr
XM_011535641.2:c.20323G>T XP_011533943.1:p.Asp6775Tyr
XM_011535642.2:c.20311G>T XP_011533944.1:p.Asp6771Tyr
XM_011535645.2:c.18094G>T XP_011533947.1:p.Asp6032Tyr
XM_017010608.1:c.20326G>T XP_016866097.1:p.Asp6776Tyr
XM_017010609.1:c.20326G>T XP_016866098.1:p.Asp6776Tyr
XM_017010610.1:c.20305G>T XP_016866099.1:p.Asp6769Tyr
XM_017010611.2:c.20299G>T XP_016866100.1:p.Asp6767Tyr
XM_017010612.1:c.20248G>T XP_016866101.1:p.Asp6750Tyr
XM_017010613.1:c.20323G>T XP_016866102.1:p.Asp6775Tyr
XM_017010614.1:c.20170G>T XP_016866103.1:p.Asp6724Tyr
XM_017010615.1:c.20170G>T XP_016866104.1:p.Asp6724Tyr
XM_017010616.1:c.20326G>T XP_016866105.1:p.Asp6776Tyr
XM_017010617.1:c.20323G>T XP_016866106.1:p.Asp6775Tyr
XM_017010618.1:c.20311G>T XP_016866107.1:p.Asp6771Tyr
XM_017010619.1:c.18601G>T XP_016866108.1:p.Asp6201Tyr
NM_182961.4:c.20290G>T MANE Select NP_892006.3:p.Asp6764Tyr
NM_033071.5:c.20077G>T NP_149062.2:p.Asp6693Tyr