Canonical Allele Identifier: CA349405358

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530068A>G , CM000664.2:g.178530068A>G GRCh38
NC_000002.11:g.179394795A>G , CM000664.1:g.179394795A>G GRCh37
NC_000002.10:g.179103041A>G NCBI36
NG_011618.3:g.305735T>C , LRG_391:g.305735T>C
NG_051363.1:g.12242A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98719T>C (TTN) ENSP00000343764.6:p.Phe32907Leu
ENST00000342175.11:c.79804T>C (TTN) ENSP00000340554.6:p.Phe26602Leu
ENST00000359218.10:c.79603T>C (TTN) ENSP00000352154.5:p.Phe26535Leu
ENST00000342175.10:c.79804T>C (TTN) ENSP00000340554.6:p.Phe26602Leu
ENST00000342992.10:c.98719T>C (TTN) ENSP00000343764.6:p.Phe32907Leu
ENST00000359218.9:c.79603T>C (TTN) ENSP00000352154.5:p.Phe26535Leu
ENST00000460472.6:c.79228T>C (TTN) ENSP00000434586.1:p.Phe26410Leu
ENST00000589042.5:c.106423T>C (TTN) MANE Select ENSP00000467141.1:p.Phe35475Leu
ENST00000591111.5:c.101500T>C (TTN) ENSP00000465570.1:p.Phe33834Leu
ENST00000615779.4:c.101500T>C (TTN) ENSP00000483597.1:p.Phe33834Leu
NM_001256850.1:c.101500T>C (TTN) NP_001243779.1:p.Phe33834Leu
NM_001267550.2:c.106423T>C (TTN) MANE Select NP_001254479.2:p.Phe35475Leu
NM_003319.4:c.79228T>C (TTN) NP_003310.4:p.Phe26410Leu
NM_133378.4:c.98719T>C (TTN) NP_596869.4:p.Phe32907Leu
NM_133432.3:c.79603T>C (TTN) NP_597676.3:p.Phe26535Leu
NM_133437.4:c.79804T>C (TTN) NP_597681.4:p.Phe26602Leu
NR_038271.1:n.446+6432A>G (TTN-AS1)
NR_038272.1:n.220-5664A>G (TTN-AS1)
XM_011511729.1:c.105520T>C (TTN) XP_011510031.1:p.Phe35174Leu
XM_011511730.1:c.79414T>C (TTN) XP_011510032.1:p.Phe26472Leu
XM_011511731.1:c.79273T>C (TTN) XP_011510033.1:p.Phe26425Leu
XM_017004819.1:c.105316T>C (TTN) XP_016860308.1:p.Phe35106Leu
XM_017004820.1:c.100714T>C (TTN) XP_016860309.1:p.Phe33572Leu
XM_017004821.1:c.100711T>C (TTN) XP_016860310.1:p.Phe33571Leu
XM_017004822.1:c.97753T>C (TTN) XP_016860311.1:p.Phe32585Leu
XM_017004823.1:c.79369T>C (TTN) XP_016860312.1:p.Phe26457Leu
XM_024453094.1:c.100864T>C (TTN) XP_024308862.1:p.Phe33622Leu
XM_024453095.1:c.100861T>C (TTN) XP_024308863.1:p.Phe33621Leu
XM_024453096.1:c.100294T>C (TTN) XP_024308864.1:p.Phe33432Leu
XM_024453097.1:c.97636T>C (TTN) XP_024308865.1:p.Phe32546Leu
XM_024453098.1:c.97555T>C (TTN) XP_024308866.1:p.Phe32519Leu
XM_024453099.1:c.79318T>C (TTN) XP_024308867.1:p.Phe26440Leu
XM_024453100.1:c.69172T>C (TTN) XP_024308868.1:p.Phe23058Leu