Canonical Allele Identifier: CA150192923
Community Standard Title: NM_182961.4(SYNE1):c.17905C>T (p.Gln5969Ter)
Gene: SYNE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.152293695G>A , CM000668.2:g.152293695G>A GRCh38
NC_000006.11:g.152614830G>A , CM000668.1:g.152614830G>A GRCh37
NC_000006.10:g.152656523G>A NCBI36
NG_012855.1:g.348705C>T
NG_012855.2:g.348705C>T

Transcript Alleles

HGVS Amino-acid Change
NM_182961.4:c.17905C>T MANE Select NP_892006.3:p.Gln5969Ter
ENST00000367255.10:c.17905C>T MANE Select ENSP00000356224.5:p.Gln5969Ter
NM_033071.3:c.17692C>T NP_149062.1:p.Gln5898Ter
NM_033071.5:c.17692C>T NP_149062.2:p.Gln5898Ter
NM_182961.3:c.17905C>T NP_892006.3:p.Gln5969Ter
ENST00000341594.9:c.16690C>T ENSP00000341887.6:p.Gln5564Ter
ENST00000367255.9:c.17905C>T ENSP00000356224.5:p.Gln5969Ter
ENST00000367256.9:n.1597C>T
ENST00000409694.6:n.1489C>T
ENST00000423061.5:c.17692C>T ENSP00000396024.1:p.Gln5898Ter
ENST00000423061.6:c.17692C>T ENSP00000396024.1:p.Gln5898Ter
ENST00000489156.1:n.624C>T
ENST00000537033.1:c.571C>T ENSP00000443879.1:p.Gln191Ter
ENST00000540663.5:c.430C>T ENSP00000437411.1:p.Gln144Ter
XM_006715407.1:c.17926C>T XP_006715470.1:p.Gln5976Ter
XM_006715408.1:c.17926C>T XP_006715471.1:p.Gln5976Ter
XM_006715408.2:c.17926C>T XP_006715471.1:p.Gln5976Ter
XM_006715409.1:c.17905C>T XP_006715472.1:p.Gln5969Ter
XM_006715410.1:c.17926C>T XP_006715473.1:p.Gln5976Ter
XM_006715410.2:c.17926C>T XP_006715473.1:p.Gln5976Ter
XM_006715411.1:c.17875C>T XP_006715474.1:p.Gln5959Ter
XM_006715412.1:c.17926C>T XP_006715475.1:p.Gln5976Ter
XM_006715412.2:c.17926C>T XP_006715475.1:p.Gln5976Ter
XM_006715413.1:c.17926C>T XP_006715476.1:p.Gln5976Ter
XM_006715413.2:c.17926C>T XP_006715476.1:p.Gln5976Ter
XM_006715414.1:c.17854C>T XP_006715477.1:p.Gln5952Ter
XM_006715415.1:c.17926C>T XP_006715478.1:p.Gln5976Ter
XM_006715415.2:c.17926C>T XP_006715478.1:p.Gln5976Ter
XM_006715416.1:c.17926C>T XP_006715479.1:p.Gln5976Ter
XM_006715416.2:c.17926C>T XP_006715479.1:p.Gln5976Ter
XM_006715417.1:c.17785C>T XP_006715480.1:p.Gln5929Ter
XM_006715417.2:c.17785C>T XP_006715480.1:p.Gln5929Ter
XM_006715420.1:c.17785C>T XP_006715483.1:p.Gln5929Ter
XM_006715420.2:c.17785C>T XP_006715483.1:p.Gln5929Ter
XM_006715421.1:c.17770C>T XP_006715484.1:p.Gln5924Ter
XM_006715421.2:c.17770C>T XP_006715484.1:p.Gln5924Ter
XM_006715422.1:c.17767C>T XP_006715485.1:p.Gln5923Ter
XM_006715423.1:c.17926C>T XP_006715486.1:p.Gln5976Ter
XM_006715423.2:c.17926C>T XP_006715486.1:p.Gln5976Ter
XM_006715424.1:c.17926C>T XP_006715487.1:p.Gln5976Ter
XM_006715424.2:c.17926C>T XP_006715487.1:p.Gln5976Ter
XM_006715425.1:c.17926C>T XP_006715488.1:p.Gln5976Ter
XM_006715425.2:c.17926C>T XP_006715488.1:p.Gln5976Ter
XM_011535641.1:c.17926C>T XP_011533943.1:p.Gln5976Ter
XM_011535641.2:c.17926C>T XP_011533943.1:p.Gln5976Ter
XM_011535642.1:c.17926C>T XP_011533944.1:p.Gln5976Ter
XM_011535642.2:c.17926C>T XP_011533944.1:p.Gln5976Ter
XM_011535643.1:c.17761C>T XP_011533945.1:p.Gln5921Ter
XM_011535644.1:c.16201C>T XP_011533946.1:p.Gln5401Ter
XM_011535645.1:c.15694C>T XP_011533947.1:p.Gln5232Ter
XM_011535645.2:c.15694C>T XP_011533947.1:p.Gln5232Ter
XM_011535646.1:c.17926C>T XP_011533948.1:p.Gln5976Ter
XM_011535647.1:c.11161C>T XP_011533949.1:p.Gln3721Ter
XM_017010608.1:c.17926C>T XP_016866097.1:p.Gln5976Ter
XM_017010609.1:c.17926C>T XP_016866098.1:p.Gln5976Ter
XM_017010610.1:c.17905C>T XP_016866099.1:p.Gln5969Ter
XM_017010611.2:c.17899C>T XP_016866100.1:p.Gln5967Ter
XM_017010612.1:c.17848C>T XP_016866101.1:p.Gln5950Ter
XM_017010613.1:c.17926C>T XP_016866102.1:p.Gln5976Ter
XM_017010614.1:c.17785C>T XP_016866103.1:p.Gln5929Ter
XM_017010615.1:c.17785C>T XP_016866104.1:p.Gln5929Ter
XM_017010616.1:c.17926C>T XP_016866105.1:p.Gln5976Ter
XM_017010617.1:c.17926C>T XP_016866106.1:p.Gln5976Ter
XM_017010618.1:c.17926C>T XP_016866107.1:p.Gln5976Ter
XM_017010619.1:c.16201C>T XP_016866108.1:p.Gln5401Ter
XR_001743287.1:n.18409C>T