Canonical Allele Identifier: CA349407188

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530586C>A , CM000664.2:g.178530586C>A GRCh38
NC_000002.11:g.179395313C>A , CM000664.1:g.179395313C>A GRCh37
NC_000002.10:g.179103559C>A NCBI36
NG_011618.3:g.305217G>T , LRG_391:g.305217G>T
NG_051363.1:g.12760C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98325G>T (TTN) ENSP00000343764.6:p.Glu32775Asp
ENST00000342175.11:c.79410G>T (TTN) ENSP00000340554.6:p.Glu26470Asp
ENST00000359218.10:c.79209G>T (TTN) ENSP00000352154.5:p.Glu26403Asp
ENST00000342175.10:c.79410G>T (TTN) ENSP00000340554.6:p.Glu26470Asp
ENST00000342992.10:c.98325G>T (TTN) ENSP00000343764.6:p.Glu32775Asp
ENST00000359218.9:c.79209G>T (TTN) ENSP00000352154.5:p.Glu26403Asp
ENST00000460472.6:c.78834G>T (TTN) ENSP00000434586.1:p.Glu26278Asp
ENST00000589042.5:c.106029G>T (TTN) MANE Select ENSP00000467141.1:p.Glu35343Asp
ENST00000591111.5:c.101106G>T (TTN) ENSP00000465570.1:p.Glu33702Asp
ENST00000615779.4:c.101106G>T (TTN) ENSP00000483597.1:p.Glu33702Asp
NM_001256850.1:c.101106G>T (TTN) NP_001243779.1:p.Glu33702Asp
NM_001267550.2:c.106029G>T (TTN) MANE Select NP_001254479.2:p.Glu35343Asp
NM_003319.4:c.78834G>T (TTN) NP_003310.4:p.Glu26278Asp
NM_133378.4:c.98325G>T (TTN) NP_596869.4:p.Glu32775Asp
NM_133432.3:c.79209G>T (TTN) NP_597676.3:p.Glu26403Asp
NM_133437.4:c.79410G>T (TTN) NP_597681.4:p.Glu26470Asp
NR_038271.1:n.446+6950C>A (TTN-AS1)
NR_038272.1:n.220-5146C>A (TTN-AS1)
XM_011511729.1:c.105126G>T (TTN) XP_011510031.1:p.Glu35042Asp
XM_011511730.1:c.79020G>T (TTN) XP_011510032.1:p.Glu26340Asp
XM_011511731.1:c.78879G>T (TTN) XP_011510033.1:p.Glu26293Asp
XM_017004819.1:c.104922G>T (TTN) XP_016860308.1:p.Glu34974Asp
XM_017004820.1:c.100320G>T (TTN) XP_016860309.1:p.Glu33440Asp
XM_017004821.1:c.100317G>T (TTN) XP_016860310.1:p.Glu33439Asp
XM_017004822.1:c.97359G>T (TTN) XP_016860311.1:p.Glu32453Asp
XM_017004823.1:c.78975G>T (TTN) XP_016860312.1:p.Glu26325Asp
XM_024453094.1:c.100470G>T (TTN) XP_024308862.1:p.Glu33490Asp
XM_024453095.1:c.100467G>T (TTN) XP_024308863.1:p.Glu33489Asp
XM_024453096.1:c.99900G>T (TTN) XP_024308864.1:p.Glu33300Asp
XM_024453097.1:c.97242G>T (TTN) XP_024308865.1:p.Glu32414Asp
XM_024453098.1:c.97161G>T (TTN) XP_024308866.1:p.Glu32387Asp
XM_024453099.1:c.78924G>T (TTN) XP_024308867.1:p.Glu26308Asp
XM_024453100.1:c.68778G>T (TTN) XP_024308868.1:p.Glu22926Asp