Canonical Allele Identifier: CA349405827

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530251T>C , CM000664.2:g.178530251T>C GRCh38
NC_000002.11:g.179394978T>C , CM000664.1:g.179394978T>C GRCh37
NC_000002.10:g.179103224T>C NCBI36
NG_011618.3:g.305552A>G , LRG_391:g.305552A>G
NG_051363.1:g.12425T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98660A>G (TTN) ENSP00000343764.6:p.Lys32887Arg
ENST00000342175.11:c.79745A>G (TTN) ENSP00000340554.6:p.Lys26582Arg
ENST00000359218.10:c.79544A>G (TTN) ENSP00000352154.5:p.Lys26515Arg
ENST00000342175.10:c.79745A>G (TTN) ENSP00000340554.6:p.Lys26582Arg
ENST00000342992.10:c.98660A>G (TTN) ENSP00000343764.6:p.Lys32887Arg
ENST00000359218.9:c.79544A>G (TTN) ENSP00000352154.5:p.Lys26515Arg
ENST00000460472.6:c.79169A>G (TTN) ENSP00000434586.1:p.Lys26390Arg
ENST00000589042.5:c.106364A>G (TTN) MANE Select ENSP00000467141.1:p.Lys35455Arg
ENST00000591111.5:c.101441A>G (TTN) ENSP00000465570.1:p.Lys33814Arg
ENST00000615779.4:c.101441A>G (TTN) ENSP00000483597.1:p.Lys33814Arg
NM_001256850.1:c.101441A>G (TTN) NP_001243779.1:p.Lys33814Arg
NM_001267550.2:c.106364A>G (TTN) MANE Select NP_001254479.2:p.Lys35455Arg
NM_003319.4:c.79169A>G (TTN) NP_003310.4:p.Lys26390Arg
NM_133378.4:c.98660A>G (TTN) NP_596869.4:p.Lys32887Arg
NM_133432.3:c.79544A>G (TTN) NP_597676.3:p.Lys26515Arg
NM_133437.4:c.79745A>G (TTN) NP_597681.4:p.Lys26582Arg
NR_038271.1:n.446+6615T>C (TTN-AS1)
NR_038272.1:n.220-5481T>C (TTN-AS1)
XM_011511729.1:c.105461A>G (TTN) XP_011510031.1:p.Lys35154Arg
XM_011511730.1:c.79355A>G (TTN) XP_011510032.1:p.Lys26452Arg
XM_011511731.1:c.79214A>G (TTN) XP_011510033.1:p.Lys26405Arg
XM_017004819.1:c.105257A>G (TTN) XP_016860308.1:p.Lys35086Arg
XM_017004820.1:c.100655A>G (TTN) XP_016860309.1:p.Lys33552Arg
XM_017004821.1:c.100652A>G (TTN) XP_016860310.1:p.Lys33551Arg
XM_017004822.1:c.97694A>G (TTN) XP_016860311.1:p.Lys32565Arg
XM_017004823.1:c.79310A>G (TTN) XP_016860312.1:p.Lys26437Arg
XM_024453094.1:c.100805A>G (TTN) XP_024308862.1:p.Lys33602Arg
XM_024453095.1:c.100802A>G (TTN) XP_024308863.1:p.Lys33601Arg
XM_024453096.1:c.100235A>G (TTN) XP_024308864.1:p.Lys33412Arg
XM_024453097.1:c.97577A>G (TTN) XP_024308865.1:p.Lys32526Arg
XM_024453098.1:c.97496A>G (TTN) XP_024308866.1:p.Lys32499Arg
XM_024453099.1:c.79259A>G (TTN) XP_024308867.1:p.Lys26420Arg
XM_024453100.1:c.69113A>G (TTN) XP_024308868.1:p.Lys23038Arg