Canonical Allele Identifier: CA349406402

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98551A>T (TTN) ENSP00000343764.6:p.Lys32851Ter
ENST00000342175.11:c.79636A>T (TTN) ENSP00000340554.6:p.Lys26546Ter
ENST00000359218.10:c.79435A>T (TTN) ENSP00000352154.5:p.Lys26479Ter
ENST00000342175.10:c.79636A>T (TTN) ENSP00000340554.6:p.Lys26546Ter
ENST00000342992.10:c.98551A>T (TTN) ENSP00000343764.6:p.Lys32851Ter
ENST00000359218.9:c.79435A>T (TTN) ENSP00000352154.5:p.Lys26479Ter
ENST00000460472.6:c.79060A>T (TTN) ENSP00000434586.1:p.Lys26354Ter
ENST00000589042.5:c.106255A>T (TTN) MANE Select ENSP00000467141.1:p.Lys35419Ter
ENST00000591111.5:c.101332A>T (TTN) ENSP00000465570.1:p.Lys33778Ter
ENST00000615779.4:c.101332A>T (TTN) ENSP00000483597.1:p.Lys33778Ter
NM_001256850.1:c.101332A>T (TTN) NP_001243779.1:p.Lys33778Ter
NM_001267550.2:c.106255A>T (TTN) MANE Select NP_001254479.2:p.Lys35419Ter
NM_003319.4:c.79060A>T (TTN) NP_003310.4:p.Lys26354Ter
NM_133378.4:c.98551A>T (TTN) NP_596869.4:p.Lys32851Ter
NM_133432.3:c.79435A>T (TTN) NP_597676.3:p.Lys26479Ter
NM_133437.4:c.79636A>T (TTN) NP_597681.4:p.Lys26546Ter
NR_038271.1:n.446+6724T>A (TTN-AS1)
NR_038272.1:n.220-5372T>A (TTN-AS1)
XM_011511729.1:c.105352A>T (TTN) XP_011510031.1:p.Lys35118Ter
XM_011511730.1:c.79246A>T (TTN) XP_011510032.1:p.Lys26416Ter
XM_011511731.1:c.79105A>T (TTN) XP_011510033.1:p.Lys26369Ter
XM_017004819.1:c.105148A>T (TTN) XP_016860308.1:p.Lys35050Ter
XM_017004820.1:c.100546A>T (TTN) XP_016860309.1:p.Lys33516Ter
XM_017004821.1:c.100543A>T (TTN) XP_016860310.1:p.Lys33515Ter
XM_017004822.1:c.97585A>T (TTN) XP_016860311.1:p.Lys32529Ter
XM_017004823.1:c.79201A>T (TTN) XP_016860312.1:p.Lys26401Ter
XM_024453094.1:c.100696A>T (TTN) XP_024308862.1:p.Lys33566Ter
XM_024453095.1:c.100693A>T (TTN) XP_024308863.1:p.Lys33565Ter
XM_024453096.1:c.100126A>T (TTN) XP_024308864.1:p.Lys33376Ter
XM_024453097.1:c.97468A>T (TTN) XP_024308865.1:p.Lys32490Ter
XM_024453098.1:c.97387A>T (TTN) XP_024308866.1:p.Lys32463Ter
XM_024453099.1:c.79150A>T (TTN) XP_024308867.1:p.Lys26384Ter
XM_024453100.1:c.69004A>T (TTN) XP_024308868.1:p.Lys23002Ter