Canonical Allele Identifier: CA349406403

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530360T>C , CM000664.2:g.178530360T>C GRCh38
NC_000002.11:g.179395087T>C , CM000664.1:g.179395087T>C GRCh37
NC_000002.10:g.179103333T>C NCBI36
NG_011618.3:g.305443A>G , LRG_391:g.305443A>G
NG_051363.1:g.12534T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98551A>G (TTN) ENSP00000343764.6:p.Lys32851Glu
ENST00000342175.11:c.79636A>G (TTN) ENSP00000340554.6:p.Lys26546Glu
ENST00000359218.10:c.79435A>G (TTN) ENSP00000352154.5:p.Lys26479Glu
ENST00000342175.10:c.79636A>G (TTN) ENSP00000340554.6:p.Lys26546Glu
ENST00000342992.10:c.98551A>G (TTN) ENSP00000343764.6:p.Lys32851Glu
ENST00000359218.9:c.79435A>G (TTN) ENSP00000352154.5:p.Lys26479Glu
ENST00000460472.6:c.79060A>G (TTN) ENSP00000434586.1:p.Lys26354Glu
ENST00000589042.5:c.106255A>G (TTN) MANE Select ENSP00000467141.1:p.Lys35419Glu
ENST00000591111.5:c.101332A>G (TTN) ENSP00000465570.1:p.Lys33778Glu
ENST00000615779.4:c.101332A>G (TTN) ENSP00000483597.1:p.Lys33778Glu
NM_001256850.1:c.101332A>G (TTN) NP_001243779.1:p.Lys33778Glu
NM_001267550.2:c.106255A>G (TTN) MANE Select NP_001254479.2:p.Lys35419Glu
NM_003319.4:c.79060A>G (TTN) NP_003310.4:p.Lys26354Glu
NM_133378.4:c.98551A>G (TTN) NP_596869.4:p.Lys32851Glu
NM_133432.3:c.79435A>G (TTN) NP_597676.3:p.Lys26479Glu
NM_133437.4:c.79636A>G (TTN) NP_597681.4:p.Lys26546Glu
NR_038271.1:n.446+6724T>C (TTN-AS1)
NR_038272.1:n.220-5372T>C (TTN-AS1)
XM_011511729.1:c.105352A>G (TTN) XP_011510031.1:p.Lys35118Glu
XM_011511730.1:c.79246A>G (TTN) XP_011510032.1:p.Lys26416Glu
XM_011511731.1:c.79105A>G (TTN) XP_011510033.1:p.Lys26369Glu
XM_017004819.1:c.105148A>G (TTN) XP_016860308.1:p.Lys35050Glu
XM_017004820.1:c.100546A>G (TTN) XP_016860309.1:p.Lys33516Glu
XM_017004821.1:c.100543A>G (TTN) XP_016860310.1:p.Lys33515Glu
XM_017004822.1:c.97585A>G (TTN) XP_016860311.1:p.Lys32529Glu
XM_017004823.1:c.79201A>G (TTN) XP_016860312.1:p.Lys26401Glu
XM_024453094.1:c.100696A>G (TTN) XP_024308862.1:p.Lys33566Glu
XM_024453095.1:c.100693A>G (TTN) XP_024308863.1:p.Lys33565Glu
XM_024453096.1:c.100126A>G (TTN) XP_024308864.1:p.Lys33376Glu
XM_024453097.1:c.97468A>G (TTN) XP_024308865.1:p.Lys32490Glu
XM_024453098.1:c.97387A>G (TTN) XP_024308866.1:p.Lys32463Glu
XM_024453099.1:c.79150A>G (TTN) XP_024308867.1:p.Lys26384Glu
XM_024453100.1:c.69004A>G (TTN) XP_024308868.1:p.Lys23002Glu