Canonical Allele Identifier: CA1986092
Community Standard Title: NM_001267550.2(TTN):c.99996G>A (p.Glu33332=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537113C>T , CM000664.2:g.178537113C>T GRCh38
NC_000002.11:g.179401840C>T , CM000664.1:g.179401840C>T GRCh37
NC_000002.10:g.179110086C>T NCBI36
NG_011618.3:g.298690G>A , LRG_391:g.298690G>A
NG_051363.1:g.19287C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.99996G>A (TTN) MANE Select NP_001254479.2:p.Glu33332=
ENST00000589042.5:c.99996G>A (TTN) MANE Select ENSP00000467141.1:p.Glu33332=
NM_001256850.1:c.95073G>A (TTN) NP_001243779.1:p.Glu31691=
NM_003319.4:c.72801G>A (TTN) NP_003310.4:p.Glu24267=
NM_133378.4:c.92292G>A (TTN) NP_596869.4:p.Glu30764=
NM_133432.3:c.73176G>A (TTN) NP_597676.3:p.Glu24392=
NM_133437.4:c.73377G>A (TTN) NP_597681.4:p.Glu24459=
NR_038271.1:n.446+13477C>T (TTN-AS1)
NR_038272.1:n.317-248C>T (TTN-AS1)
ENST00000342175.10:c.73377G>A (TTN) ENSP00000340554.6:p.Glu24459=
ENST00000342175.11:c.73377G>A (TTN) ENSP00000340554.6:p.Glu24459=
ENST00000342992.10:c.92292G>A (TTN) ENSP00000343764.6:p.Glu30764=
ENST00000342992.11:c.92292G>A (TTN) ENSP00000343764.6:p.Glu30764=
ENST00000359218.10:c.73176G>A (TTN) ENSP00000352154.5:p.Glu24392=
ENST00000359218.9:c.73176G>A (TTN) ENSP00000352154.5:p.Glu24392=
ENST00000460472.6:c.72801G>A (TTN) ENSP00000434586.1:p.Glu24267=
ENST00000591111.5:c.95073G>A (TTN) ENSP00000465570.1:p.Glu31691=
ENST00000615779.4:c.95073G>A (TTN) ENSP00000483597.1:p.Glu31691=
XM_011511729.1:c.99093G>A (TTN) XP_011510031.1:p.Glu33031=
XM_011511730.1:c.72987G>A (TTN) XP_011510032.1:p.Glu24329=
XM_011511731.1:c.72846G>A (TTN) XP_011510033.1:p.Glu24282=
XM_017004819.1:c.98889G>A (TTN) XP_016860308.1:p.Glu32963=
XM_017004820.1:c.94287G>A (TTN) XP_016860309.1:p.Glu31429=
XM_017004821.1:c.94284G>A (TTN) XP_016860310.1:p.Glu31428=
XM_017004822.1:c.91326G>A (TTN) XP_016860311.1:p.Glu30442=
XM_017004823.1:c.72942G>A (TTN) XP_016860312.1:p.Glu24314=
XM_024453094.1:c.94437G>A (TTN) XP_024308862.1:p.Glu31479=
XM_024453095.1:c.94434G>A (TTN) XP_024308863.1:p.Glu31478=
XM_024453096.1:c.93867G>A (TTN) XP_024308864.1:p.Glu31289=
XM_024453097.1:c.91209G>A (TTN) XP_024308865.1:p.Glu30403=
XM_024453098.1:c.91128G>A (TTN) XP_024308866.1:p.Glu30376=
XM_024453099.1:c.72891G>A (TTN) XP_024308867.1:p.Glu24297=
XM_024453100.1:c.62745G>A (TTN) XP_024308868.1:p.Glu20915=