Canonical Allele Identifier: CA349405555

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530097T>C , CM000664.2:g.178530097T>C GRCh38
NC_000002.11:g.179394824T>C , CM000664.1:g.179394824T>C GRCh37
NC_000002.10:g.179103070T>C NCBI36
NG_011618.3:g.305706A>G , LRG_391:g.305706A>G
NG_051363.1:g.12271T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98690A>G (TTN) ENSP00000343764.6:p.Lys32897Arg
ENST00000342175.11:c.79775A>G (TTN) ENSP00000340554.6:p.Lys26592Arg
ENST00000359218.10:c.79574A>G (TTN) ENSP00000352154.5:p.Lys26525Arg
ENST00000342175.10:c.79775A>G (TTN) ENSP00000340554.6:p.Lys26592Arg
ENST00000342992.10:c.98690A>G (TTN) ENSP00000343764.6:p.Lys32897Arg
ENST00000359218.9:c.79574A>G (TTN) ENSP00000352154.5:p.Lys26525Arg
ENST00000460472.6:c.79199A>G (TTN) ENSP00000434586.1:p.Lys26400Arg
ENST00000589042.5:c.106394A>G (TTN) MANE Select ENSP00000467141.1:p.Lys35465Arg
ENST00000591111.5:c.101471A>G (TTN) ENSP00000465570.1:p.Lys33824Arg
ENST00000615779.4:c.101471A>G (TTN) ENSP00000483597.1:p.Lys33824Arg
NM_001256850.1:c.101471A>G (TTN) NP_001243779.1:p.Lys33824Arg
NM_001267550.2:c.106394A>G (TTN) MANE Select NP_001254479.2:p.Lys35465Arg
NM_003319.4:c.79199A>G (TTN) NP_003310.4:p.Lys26400Arg
NM_133378.4:c.98690A>G (TTN) NP_596869.4:p.Lys32897Arg
NM_133432.3:c.79574A>G (TTN) NP_597676.3:p.Lys26525Arg
NM_133437.4:c.79775A>G (TTN) NP_597681.4:p.Lys26592Arg
NR_038271.1:n.446+6461T>C (TTN-AS1)
NR_038272.1:n.220-5635T>C (TTN-AS1)
XM_011511729.1:c.105491A>G (TTN) XP_011510031.1:p.Lys35164Arg
XM_011511730.1:c.79385A>G (TTN) XP_011510032.1:p.Lys26462Arg
XM_011511731.1:c.79244A>G (TTN) XP_011510033.1:p.Lys26415Arg
XM_017004819.1:c.105287A>G (TTN) XP_016860308.1:p.Lys35096Arg
XM_017004820.1:c.100685A>G (TTN) XP_016860309.1:p.Lys33562Arg
XM_017004821.1:c.100682A>G (TTN) XP_016860310.1:p.Lys33561Arg
XM_017004822.1:c.97724A>G (TTN) XP_016860311.1:p.Lys32575Arg
XM_017004823.1:c.79340A>G (TTN) XP_016860312.1:p.Lys26447Arg
XM_024453094.1:c.100835A>G (TTN) XP_024308862.1:p.Lys33612Arg
XM_024453095.1:c.100832A>G (TTN) XP_024308863.1:p.Lys33611Arg
XM_024453096.1:c.100265A>G (TTN) XP_024308864.1:p.Lys33422Arg
XM_024453097.1:c.97607A>G (TTN) XP_024308865.1:p.Lys32536Arg
XM_024453098.1:c.97526A>G (TTN) XP_024308866.1:p.Lys32509Arg
XM_024453099.1:c.79289A>G (TTN) XP_024308867.1:p.Lys26430Arg
XM_024453100.1:c.69143A>G (TTN) XP_024308868.1:p.Lys23048Arg