Canonical Allele Identifier: CA349406121

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530296G>T , CM000664.2:g.178530296G>T GRCh38
NC_000002.11:g.179395023G>T , CM000664.1:g.179395023G>T GRCh37
NC_000002.10:g.179103269G>T NCBI36
NG_011618.3:g.305507C>A , LRG_391:g.305507C>A
NG_051363.1:g.12470G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98615C>A (TTN) ENSP00000343764.6:p.Ala32872Glu
ENST00000342175.11:c.79700C>A (TTN) ENSP00000340554.6:p.Ala26567Glu
ENST00000359218.10:c.79499C>A (TTN) ENSP00000352154.5:p.Ala26500Glu
ENST00000342175.10:c.79700C>A (TTN) ENSP00000340554.6:p.Ala26567Glu
ENST00000342992.10:c.98615C>A (TTN) ENSP00000343764.6:p.Ala32872Glu
ENST00000359218.9:c.79499C>A (TTN) ENSP00000352154.5:p.Ala26500Glu
ENST00000460472.6:c.79124C>A (TTN) ENSP00000434586.1:p.Ala26375Glu
ENST00000589042.5:c.106319C>A (TTN) MANE Select ENSP00000467141.1:p.Ala35440Glu
ENST00000591111.5:c.101396C>A (TTN) ENSP00000465570.1:p.Ala33799Glu
ENST00000615779.4:c.101396C>A (TTN) ENSP00000483597.1:p.Ala33799Glu
NM_001256850.1:c.101396C>A (TTN) NP_001243779.1:p.Ala33799Glu
NM_001267550.2:c.106319C>A (TTN) MANE Select NP_001254479.2:p.Ala35440Glu
NM_003319.4:c.79124C>A (TTN) NP_003310.4:p.Ala26375Glu
NM_133378.4:c.98615C>A (TTN) NP_596869.4:p.Ala32872Glu
NM_133432.3:c.79499C>A (TTN) NP_597676.3:p.Ala26500Glu
NM_133437.4:c.79700C>A (TTN) NP_597681.4:p.Ala26567Glu
NR_038271.1:n.446+6660G>T (TTN-AS1)
NR_038272.1:n.220-5436G>T (TTN-AS1)
XM_011511729.1:c.105416C>A (TTN) XP_011510031.1:p.Ala35139Glu
XM_011511730.1:c.79310C>A (TTN) XP_011510032.1:p.Ala26437Glu
XM_011511731.1:c.79169C>A (TTN) XP_011510033.1:p.Ala26390Glu
XM_017004819.1:c.105212C>A (TTN) XP_016860308.1:p.Ala35071Glu
XM_017004820.1:c.100610C>A (TTN) XP_016860309.1:p.Ala33537Glu
XM_017004821.1:c.100607C>A (TTN) XP_016860310.1:p.Ala33536Glu
XM_017004822.1:c.97649C>A (TTN) XP_016860311.1:p.Ala32550Glu
XM_017004823.1:c.79265C>A (TTN) XP_016860312.1:p.Ala26422Glu
XM_024453094.1:c.100760C>A (TTN) XP_024308862.1:p.Ala33587Glu
XM_024453095.1:c.100757C>A (TTN) XP_024308863.1:p.Ala33586Glu
XM_024453096.1:c.100190C>A (TTN) XP_024308864.1:p.Ala33397Glu
XM_024453097.1:c.97532C>A (TTN) XP_024308865.1:p.Ala32511Glu
XM_024453098.1:c.97451C>A (TTN) XP_024308866.1:p.Ala32484Glu
XM_024453099.1:c.79214C>A (TTN) XP_024308867.1:p.Ala26405Glu
XM_024453100.1:c.69068C>A (TTN) XP_024308868.1:p.Ala23023Glu