Canonical Allele Identifier: CA349424385

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178580140C>G , CM000664.2:g.178580140C>G GRCh38
NC_000002.11:g.179444867C>G , CM000664.1:g.179444867C>G GRCh37
NC_000002.10:g.179153113C>G NCBI36
NG_011618.3:g.255663G>C , LRG_391:g.255663G>C
NG_051363.1:g.62314C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.59443G>C (TTN) ENSP00000343764.6:p.Gly19815Arg
ENST00000342175.11:c.40528G>C (TTN) ENSP00000340554.6:p.Gly13510Arg
ENST00000359218.10:c.40327G>C (TTN) ENSP00000352154.5:p.Gly13443Arg
ENST00000342175.10:c.40528G>C (TTN) ENSP00000340554.6:p.Gly13510Arg
ENST00000342992.10:c.59443G>C (TTN) ENSP00000343764.6:p.Gly19815Arg
ENST00000359218.9:c.40327G>C (TTN) ENSP00000352154.5:p.Gly13443Arg
ENST00000460472.6:c.39952G>C (TTN) ENSP00000434586.1:p.Gly13318Arg
ENST00000589042.5:c.67147G>C (TTN) MANE Select ENSP00000467141.1:p.Gly22383Arg
ENST00000591111.5:c.62224G>C (TTN) ENSP00000465570.1:p.Gly20742Arg
ENST00000615779.4:c.62224G>C (TTN) ENSP00000483597.1:p.Gly20742Arg
NM_001256850.1:c.62224G>C (TTN) NP_001243779.1:p.Gly20742Arg
NM_001267550.2:c.67147G>C (TTN) MANE Select NP_001254479.2:p.Gly22383Arg
NM_003319.4:c.39952G>C (TTN) NP_003310.4:p.Gly13318Arg
NM_133378.4:c.59443G>C (TTN) NP_596869.4:p.Gly19815Arg
NM_133432.3:c.40327G>C (TTN) NP_597676.3:p.Gly13443Arg
NM_133437.4:c.40528G>C (TTN) NP_597681.4:p.Gly13510Arg
NR_038271.1:n.596+8691C>G (TTN-AS1)
NR_038272.1:n.2044-2432C>G (TTN-AS1)
XM_011511729.1:c.66244G>C (TTN) XP_011510031.1:p.Gly22082Arg
XM_011511730.1:c.40138G>C (TTN) XP_011510032.1:p.Gly13380Arg
XM_011511731.1:c.39997G>C (TTN) XP_011510033.1:p.Gly13333Arg
XM_017004819.1:c.66040G>C (TTN) XP_016860308.1:p.Gly22014Arg
XM_017004820.1:c.61438G>C (TTN) XP_016860309.1:p.Gly20480Arg
XM_017004821.1:c.61435G>C (TTN) XP_016860310.1:p.Gly20479Arg
XM_017004822.1:c.58477G>C (TTN) XP_016860311.1:p.Gly19493Arg
XM_017004823.1:c.40093G>C (TTN) XP_016860312.1:p.Gly13365Arg
XM_024453094.1:c.61588G>C (TTN) XP_024308862.1:p.Gly20530Arg
XM_024453095.1:c.61585G>C (TTN) XP_024308863.1:p.Gly20529Arg
XM_024453096.1:c.61018G>C (TTN) XP_024308864.1:p.Gly20340Arg
XM_024453097.1:c.58360G>C (TTN) XP_024308865.1:p.Gly19454Arg
XM_024453098.1:c.58279G>C (TTN) XP_024308866.1:p.Gly19427Arg
XM_024453099.1:c.40042G>C (TTN) XP_024308867.1:p.Gly13348Arg
XM_024453100.1:c.29896G>C (TTN) XP_024308868.1:p.Gly9966Arg