Canonical Allele Identifier: CA349405295

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530058T>G , CM000664.2:g.178530058T>G GRCh38
NC_000002.11:g.179394785T>G , CM000664.1:g.179394785T>G GRCh37
NC_000002.10:g.179103031T>G NCBI36
NG_011618.3:g.305745A>C , LRG_391:g.305745A>C
NG_051363.1:g.12232T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98729A>C (TTN) ENSP00000343764.6:p.Glu32910Ala
ENST00000342175.11:c.79814A>C (TTN) ENSP00000340554.6:p.Glu26605Ala
ENST00000359218.10:c.79613A>C (TTN) ENSP00000352154.5:p.Glu26538Ala
ENST00000342175.10:c.79814A>C (TTN) ENSP00000340554.6:p.Glu26605Ala
ENST00000342992.10:c.98729A>C (TTN) ENSP00000343764.6:p.Glu32910Ala
ENST00000359218.9:c.79613A>C (TTN) ENSP00000352154.5:p.Glu26538Ala
ENST00000460472.6:c.79238A>C (TTN) ENSP00000434586.1:p.Glu26413Ala
ENST00000589042.5:c.106433A>C (TTN) MANE Select ENSP00000467141.1:p.Glu35478Ala
ENST00000591111.5:c.101510A>C (TTN) ENSP00000465570.1:p.Glu33837Ala
ENST00000615779.4:c.101510A>C (TTN) ENSP00000483597.1:p.Glu33837Ala
NM_001256850.1:c.101510A>C (TTN) NP_001243779.1:p.Glu33837Ala
NM_001267550.2:c.106433A>C (TTN) MANE Select NP_001254479.2:p.Glu35478Ala
NM_003319.4:c.79238A>C (TTN) NP_003310.4:p.Glu26413Ala
NM_133378.4:c.98729A>C (TTN) NP_596869.4:p.Glu32910Ala
NM_133432.3:c.79613A>C (TTN) NP_597676.3:p.Glu26538Ala
NM_133437.4:c.79814A>C (TTN) NP_597681.4:p.Glu26605Ala
NR_038271.1:n.446+6422T>G (TTN-AS1)
NR_038272.1:n.220-5674T>G (TTN-AS1)
XM_011511729.1:c.105530A>C (TTN) XP_011510031.1:p.Glu35177Ala
XM_011511730.1:c.79424A>C (TTN) XP_011510032.1:p.Glu26475Ala
XM_011511731.1:c.79283A>C (TTN) XP_011510033.1:p.Glu26428Ala
XM_017004819.1:c.105326A>C (TTN) XP_016860308.1:p.Glu35109Ala
XM_017004820.1:c.100724A>C (TTN) XP_016860309.1:p.Glu33575Ala
XM_017004821.1:c.100721A>C (TTN) XP_016860310.1:p.Glu33574Ala
XM_017004822.1:c.97763A>C (TTN) XP_016860311.1:p.Glu32588Ala
XM_017004823.1:c.79379A>C (TTN) XP_016860312.1:p.Glu26460Ala
XM_024453094.1:c.100874A>C (TTN) XP_024308862.1:p.Glu33625Ala
XM_024453095.1:c.100871A>C (TTN) XP_024308863.1:p.Glu33624Ala
XM_024453096.1:c.100304A>C (TTN) XP_024308864.1:p.Glu33435Ala
XM_024453097.1:c.97646A>C (TTN) XP_024308865.1:p.Glu32549Ala
XM_024453098.1:c.97565A>C (TTN) XP_024308866.1:p.Glu32522Ala
XM_024453099.1:c.79328A>C (TTN) XP_024308867.1:p.Glu26443Ala
XM_024453100.1:c.69182A>C (TTN) XP_024308868.1:p.Glu23061Ala