Canonical Allele Identifier: CA366096799
Community Standard Title: NM_182961.4(SYNE1):c.22590-1G>A
Gene: SYNE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152208207C>T , CM000668.2:g.152208207C>T GRCh38
NC_000006.11:g.152529342C>T , CM000668.1:g.152529342C>T GRCh37
NC_000006.10:g.152571035C>T NCBI36
NG_012855.1:g.434193G>A
NG_012855.2:g.434193G>A

Transcript Alleles

HGVS Amino-acid Change
NM_182961.4:c.22590-1G>A MANE Select NP_892006.3:n.22590-1G>A
ENST00000367255.10:c.22590-1G>A MANE Select ENSP00000356224.5:n.22590-1G>A
NM_033071.3:c.22377-1G>A NP_149062.1:n.22377-1G>A
NM_033071.5:c.22377-1G>A NP_149062.2:n.22377-1G>A
NM_182961.3:c.22590-1G>A NP_892006.3:n.22590-1G>A
ENST00000341594.9:c.21375-1G>A ENSP00000341887.6:n.21375-1G>A
ENST00000367251.7:c.1356-1G>A ENSP00000356220.3:n.1356-1G>A
ENST00000367255.9:c.22590-1G>A ENSP00000356224.5:n.22590-1G>A
ENST00000367256.9:n.6282-1G>A
ENST00000367257.8:c.528-1G>A ENSP00000356226.4:n.528-1G>A
ENST00000409694.6:n.6174-1G>A
ENST00000423061.5:c.22377-1G>A ENSP00000396024.1:n.22377-1G>A
ENST00000423061.6:c.22377-1G>A ENSP00000396024.1:n.22377-1G>A
XM_006715407.1:c.22626-1G>A XP_006715470.1:n.22626-1G>A
XM_006715408.1:c.22614-1G>A XP_006715471.1:n.22614-1G>A
XM_006715408.2:c.22614-1G>A XP_006715471.1:n.22614-1G>A
XM_006715409.1:c.22605-1G>A XP_006715472.1:n.22605-1G>A
XM_006715410.1:c.22626-1G>A XP_006715473.1:n.22626-1G>A
XM_006715410.2:c.22626-1G>A XP_006715473.1:n.22626-1G>A
XM_006715411.1:c.22575-1G>A XP_006715474.1:n.22575-1G>A
XM_006715412.1:c.22611-1G>A XP_006715475.1:n.22611-1G>A
XM_006715412.2:c.22611-1G>A XP_006715475.1:n.22611-1G>A
XM_006715413.1:c.22626-1G>A XP_006715476.1:n.22626-1G>A
XM_006715413.2:c.22626-1G>A XP_006715476.1:n.22626-1G>A
XM_006715414.1:c.22554-1G>A XP_006715477.1:n.22554-1G>A
XM_006715415.1:c.22626-1G>A XP_006715478.1:n.22626-1G>A
XM_006715415.2:c.22626-1G>A XP_006715478.1:n.22626-1G>A
XM_006715416.1:c.22611-1G>A XP_006715479.1:n.22611-1G>A
XM_006715416.2:c.22611-1G>A XP_006715479.1:n.22611-1G>A
XM_006715417.1:c.22485-1G>A XP_006715480.1:n.22485-1G>A
XM_006715417.2:c.22485-1G>A XP_006715480.1:n.22485-1G>A
XM_006715420.1:c.22473-1G>A XP_006715483.1:n.22473-1G>A
XM_006715420.2:c.22473-1G>A XP_006715483.1:n.22473-1G>A
XM_006715421.1:c.22470-1G>A XP_006715484.1:n.22470-1G>A
XM_006715421.2:c.22470-1G>A XP_006715484.1:n.22470-1G>A
XM_006715422.1:c.22467-1G>A XP_006715485.1:n.22467-1G>A
XM_006715423.1:c.22626-1G>A XP_006715486.1:n.22626-1G>A
XM_006715423.2:c.22626-1G>A XP_006715486.1:n.22626-1G>A
XM_006715424.1:c.22626-1G>A XP_006715487.1:n.22626-1G>A
XM_006715424.2:c.22626-1G>A XP_006715487.1:n.22626-1G>A
XM_006715425.1:c.22626-1G>A XP_006715488.1:n.22626-1G>A
XM_006715425.2:c.22626-1G>A XP_006715488.1:n.22626-1G>A
XM_011535641.1:c.22623-1G>A XP_011533943.1:n.22623-1G>A
XM_011535641.2:c.22623-1G>A XP_011533943.1:n.22623-1G>A
XM_011535642.1:c.22611-1G>A XP_011533944.1:n.22611-1G>A
XM_011535642.2:c.22611-1G>A XP_011533944.1:n.22611-1G>A
XM_011535643.1:c.22461-1G>A XP_011533945.1:n.22461-1G>A
XM_011535644.1:c.20901-1G>A XP_011533946.1:n.20901-1G>A
XM_011535645.1:c.20394-1G>A XP_011533947.1:n.20394-1G>A
XM_011535645.2:c.20394-1G>A XP_011533947.1:n.20394-1G>A
XM_011535647.1:c.15861-1G>A XP_011533949.1:n.15861-1G>A
XM_017010608.1:c.22626-1G>A XP_016866097.1:n.22626-1G>A
XM_017010609.1:c.22626-1G>A XP_016866098.1:n.22626-1G>A
XM_017010610.1:c.22605-1G>A XP_016866099.1:n.22605-1G>A
XM_017010611.2:c.22599-1G>A XP_016866100.1:n.22599-1G>A
XM_017010612.1:c.22548-1G>A XP_016866101.1:n.22548-1G>A
XM_017010613.1:c.22623-1G>A XP_016866102.1:n.22623-1G>A
XM_017010614.1:c.22470-1G>A XP_016866103.1:n.22470-1G>A
XM_017010615.1:c.22470-1G>A XP_016866104.1:n.22470-1G>A
XM_017010616.1:c.22626-1G>A XP_016866105.1:n.22626-1G>A
XM_017010617.1:c.22623-1G>A XP_016866106.1:n.22623-1G>A
XM_017010618.1:c.22611-1G>A XP_016866107.1:n.22611-1G>A
XM_017010619.1:c.20901-1G>A XP_016866108.1:n.20901-1G>A