Canonical Allele Identifier: CA349618090

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618045T>G , CM000664.2:g.178618045T>G GRCh38
NC_000002.11:g.179482772T>G , CM000664.1:g.179482772T>G GRCh37
NC_000002.10:g.179191017T>G NCBI36
NG_011618.3:g.217758A>C , LRG_391:g.217758A>C
NG_051363.1:g.100219T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.39602A>C (TTN) ENSP00000343764.6:p.Asp13201Ala
ENST00000342175.11:c.20687A>C (TTN) ENSP00000340554.6:p.Asp6896Ala
ENST00000359218.10:c.20486A>C (TTN) ENSP00000352154.5:p.Asp6829Ala
ENST00000342175.10:c.20687A>C (TTN) ENSP00000340554.6:p.Asp6896Ala
ENST00000342992.10:c.39602A>C (TTN) ENSP00000343764.6:p.Asp13201Ala
ENST00000359218.9:c.20486A>C (TTN) ENSP00000352154.5:p.Asp6829Ala
ENST00000460472.6:c.20111A>C (TTN) ENSP00000434586.1:p.Asp6704Ala
ENST00000589042.5:c.47306A>C (TTN) MANE Select ENSP00000467141.1:p.Asp15769Ala
ENST00000591111.5:c.42383A>C (TTN) ENSP00000465570.1:p.Asp14128Ala
ENST00000615779.4:c.42383A>C (TTN) ENSP00000483597.1:p.Asp14128Ala
NM_001256850.1:c.42383A>C (TTN) NP_001243779.1:p.Asp14128Ala
NM_001267550.2:c.47306A>C (TTN) MANE Select NP_001254479.2:p.Asp15769Ala
NM_003319.4:c.20111A>C (TTN) NP_003310.4:p.Asp6704Ala
NM_133378.4:c.39602A>C (TTN) NP_596869.4:p.Asp13201Ala
NM_133432.3:c.20486A>C (TTN) NP_597676.3:p.Asp6829Ala
NM_133437.4:c.20687A>C (TTN) NP_597681.4:p.Asp6896Ala
NR_038271.1:n.1605-1708T>G (TTN-AS1)
XM_011511729.1:c.46403A>C (TTN) XP_011510031.1:p.Asp15468Ala
XM_011511730.1:c.20297A>C (TTN) XP_011510032.1:p.Asp6766Ala
XM_011511731.1:c.20156A>C (TTN) XP_011510033.1:p.Asp6719Ala
XM_017004819.1:c.46199A>C (TTN) XP_016860308.1:p.Asp15400Ala
XM_017004820.1:c.41597A>C (TTN) XP_016860309.1:p.Asp13866Ala
XM_017004821.1:c.41594A>C (TTN) XP_016860310.1:p.Asp13865Ala
XM_017004822.1:c.38636A>C (TTN) XP_016860311.1:p.Asp12879Ala
XM_017004823.1:c.20252A>C (TTN) XP_016860312.1:p.Asp6751Ala
XM_024453094.1:c.41747A>C (TTN) XP_024308862.1:p.Asp13916Ala
XM_024453095.1:c.41744A>C (TTN) XP_024308863.1:p.Asp13915Ala
XM_024453096.1:c.41177A>C (TTN) XP_024308864.1:p.Asp13726Ala
XM_024453097.1:c.38519A>C (TTN) XP_024308865.1:p.Asp12840Ala
XM_024453098.1:c.38438A>C (TTN) XP_024308866.1:p.Asp12813Ala
XM_024453099.1:c.20201A>C (TTN) XP_024308867.1:p.Asp6734Ala
XM_024453100.1:c.10055A>C (TTN) XP_024308868.1:p.Asp3352Ala