Canonical Allele Identifier: CA4055105
Community Standard Title: NM_182961.4(SYNE1):c.17851-7G>T
Gene: SYNE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152293756C>A , CM000668.2:g.152293756C>A GRCh38
NC_000006.11:g.152614891C>A , CM000668.1:g.152614891C>A GRCh37
NC_000006.10:g.152656584C>A NCBI36
NG_012855.1:g.348644G>T
NG_012855.2:g.348644G>T

Transcript Alleles

HGVS Amino-acid Change
NM_182961.4:c.17851-7G>T MANE Select NP_892006.3:n.17851-7G>T
ENST00000367255.10:c.17851-7G>T MANE Select ENSP00000356224.5:n.17851-7G>T
NM_033071.3:c.17638-7G>T NP_149062.1:n.17638-7G>T
NM_033071.5:c.17638-7G>T NP_149062.2:n.17638-7G>T
NM_182961.3:c.17851-7G>T NP_892006.3:n.17851-7G>T
ENST00000341594.9:c.16636-7G>T ENSP00000341887.6:n.16636-7G>T
ENST00000367255.9:c.17851-7G>T ENSP00000356224.5:n.17851-7G>T
ENST00000367256.9:n.1543-7G>T
ENST00000409694.6:n.1435-7G>T
ENST00000423061.5:c.17638-7G>T ENSP00000396024.1:n.17638-7G>T
ENST00000423061.6:c.17638-7G>T ENSP00000396024.1:n.17638-7G>T
ENST00000489156.1:n.570-7G>T
ENST00000537033.1:c.517-7G>T ENSP00000443879.1:n.517-7G>T
ENST00000540663.5:c.376-7G>T ENSP00000437411.1:n.376-7G>T
XM_006715407.1:c.17872-7G>T XP_006715470.1:n.17872-7G>T
XM_006715408.1:c.17872-7G>T XP_006715471.1:n.17872-7G>T
XM_006715408.2:c.17872-7G>T XP_006715471.1:n.17872-7G>T
XM_006715409.1:c.17851-7G>T XP_006715472.1:n.17851-7G>T
XM_006715410.1:c.17872-7G>T XP_006715473.1:n.17872-7G>T
XM_006715410.2:c.17872-7G>T XP_006715473.1:n.17872-7G>T
XM_006715411.1:c.17821-7G>T XP_006715474.1:n.17821-7G>T
XM_006715412.1:c.17872-7G>T XP_006715475.1:n.17872-7G>T
XM_006715412.2:c.17872-7G>T XP_006715475.1:n.17872-7G>T
XM_006715413.1:c.17872-7G>T XP_006715476.1:n.17872-7G>T
XM_006715413.2:c.17872-7G>T XP_006715476.1:n.17872-7G>T
XM_006715414.1:c.17800-7G>T XP_006715477.1:n.17800-7G>T
XM_006715415.1:c.17872-7G>T XP_006715478.1:n.17872-7G>T
XM_006715415.2:c.17872-7G>T XP_006715478.1:n.17872-7G>T
XM_006715416.1:c.17872-7G>T XP_006715479.1:n.17872-7G>T
XM_006715416.2:c.17872-7G>T XP_006715479.1:n.17872-7G>T
XM_006715417.1:c.17731-7G>T XP_006715480.1:n.17731-7G>T
XM_006715417.2:c.17731-7G>T XP_006715480.1:n.17731-7G>T
XM_006715420.1:c.17731-7G>T XP_006715483.1:n.17731-7G>T
XM_006715420.2:c.17731-7G>T XP_006715483.1:n.17731-7G>T
XM_006715421.1:c.17716-7G>T XP_006715484.1:n.17716-7G>T
XM_006715421.2:c.17716-7G>T XP_006715484.1:n.17716-7G>T
XM_006715422.1:c.17713-7G>T XP_006715485.1:n.17713-7G>T
XM_006715423.1:c.17872-7G>T XP_006715486.1:n.17872-7G>T
XM_006715423.2:c.17872-7G>T XP_006715486.1:n.17872-7G>T
XM_006715424.1:c.17872-7G>T XP_006715487.1:n.17872-7G>T
XM_006715424.2:c.17872-7G>T XP_006715487.1:n.17872-7G>T
XM_006715425.1:c.17872-7G>T XP_006715488.1:n.17872-7G>T
XM_006715425.2:c.17872-7G>T XP_006715488.1:n.17872-7G>T
XM_011535641.1:c.17872-7G>T XP_011533943.1:n.17872-7G>T
XM_011535641.2:c.17872-7G>T XP_011533943.1:n.17872-7G>T
XM_011535642.1:c.17872-7G>T XP_011533944.1:n.17872-7G>T
XM_011535642.2:c.17872-7G>T XP_011533944.1:n.17872-7G>T
XM_011535643.1:c.17707-7G>T XP_011533945.1:n.17707-7G>T
XM_011535644.1:c.16147-7G>T XP_011533946.1:n.16147-7G>T
XM_011535645.1:c.15640-7G>T XP_011533947.1:n.15640-7G>T
XM_011535645.2:c.15640-7G>T XP_011533947.1:n.15640-7G>T
XM_011535646.1:c.17872-7G>T XP_011533948.1:n.17872-7G>T
XM_011535647.1:c.11107-7G>T XP_011533949.1:n.11107-7G>T
XM_017010608.1:c.17872-7G>T XP_016866097.1:n.17872-7G>T
XM_017010609.1:c.17872-7G>T XP_016866098.1:n.17872-7G>T
XM_017010610.1:c.17851-7G>T XP_016866099.1:n.17851-7G>T
XM_017010611.2:c.17845-7G>T XP_016866100.1:n.17845-7G>T
XM_017010612.1:c.17794-7G>T XP_016866101.1:n.17794-7G>T
XM_017010613.1:c.17872-7G>T XP_016866102.1:n.17872-7G>T
XM_017010614.1:c.17731-7G>T XP_016866103.1:n.17731-7G>T
XM_017010615.1:c.17731-7G>T XP_016866104.1:n.17731-7G>T
XM_017010616.1:c.17872-7G>T XP_016866105.1:n.17872-7G>T
XM_017010617.1:c.17872-7G>T XP_016866106.1:n.17872-7G>T
XM_017010618.1:c.17872-7G>T XP_016866107.1:n.17872-7G>T
XM_017010619.1:c.16147-7G>T XP_016866108.1:n.16147-7G>T
XR_001743287.1:n.18355-7G>T