Canonical Allele Identifier: CA349604822

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178613897G>C , CM000664.2:g.178613897G>C GRCh38
NC_000002.11:g.179478624G>C , CM000664.1:g.179478624G>C GRCh37
NC_000002.10:g.179186869G>C NCBI36
NG_011618.3:g.221906C>G , LRG_391:g.221906C>G
NG_051363.1:g.96071G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.41682C>G (TTN) ENSP00000343764.6:p.Ile13894Met
ENST00000342175.11:c.22767C>G (TTN) ENSP00000340554.6:p.Ile7589Met
ENST00000359218.10:c.22566C>G (TTN) ENSP00000352154.5:p.Ile7522Met
ENST00000342175.10:c.22767C>G (TTN) ENSP00000340554.6:p.Ile7589Met
ENST00000342992.10:c.41682C>G (TTN) ENSP00000343764.6:p.Ile13894Met
ENST00000359218.9:c.22566C>G (TTN) ENSP00000352154.5:p.Ile7522Met
ENST00000460472.6:c.22191C>G (TTN) ENSP00000434586.1:p.Ile7397Met
ENST00000589042.5:c.49386C>G (TTN) MANE Select ENSP00000467141.1:p.Ile16462Met
ENST00000591111.5:c.44463C>G (TTN) ENSP00000465570.1:p.Ile14821Met
ENST00000615779.4:c.44463C>G (TTN) ENSP00000483597.1:p.Ile14821Met
NM_001256850.1:c.44463C>G (TTN) NP_001243779.1:p.Ile14821Met
NM_001267550.2:c.49386C>G (TTN) MANE Select NP_001254479.2:p.Ile16462Met
NM_003319.4:c.22191C>G (TTN) NP_003310.4:p.Ile7397Met
NM_133378.4:c.41682C>G (TTN) NP_596869.4:p.Ile13894Met
NM_133432.3:c.22566C>G (TTN) NP_597676.3:p.Ile7522Met
NM_133437.4:c.22767C>G (TTN) NP_597681.4:p.Ile7589Met
NR_038271.1:n.783-138G>C (TTN-AS1)
XM_011511729.1:c.48483C>G (TTN) XP_011510031.1:p.Ile16161Met
XM_011511730.1:c.22377C>G (TTN) XP_011510032.1:p.Ile7459Met
XM_011511731.1:c.22236C>G (TTN) XP_011510033.1:p.Ile7412Met
XM_017004819.1:c.48279C>G (TTN) XP_016860308.1:p.Ile16093Met
XM_017004820.1:c.43677C>G (TTN) XP_016860309.1:p.Ile14559Met
XM_017004821.1:c.43674C>G (TTN) XP_016860310.1:p.Ile14558Met
XM_017004822.1:c.40716C>G (TTN) XP_016860311.1:p.Ile13572Met
XM_017004823.1:c.22332C>G (TTN) XP_016860312.1:p.Ile7444Met
XM_024453094.1:c.43827C>G (TTN) XP_024308862.1:p.Ile14609Met
XM_024453095.1:c.43824C>G (TTN) XP_024308863.1:p.Ile14608Met
XM_024453096.1:c.43257C>G (TTN) XP_024308864.1:p.Ile14419Met
XM_024453097.1:c.40599C>G (TTN) XP_024308865.1:p.Ile13533Met
XM_024453098.1:c.40518C>G (TTN) XP_024308866.1:p.Ile13506Met
XM_024453099.1:c.22281C>G (TTN) XP_024308867.1:p.Ile7427Met
XM_024453100.1:c.12135C>G (TTN) XP_024308868.1:p.Ile4045Met