Canonical Allele Identifier: CA349605061

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178613937T>G , CM000664.2:g.178613937T>G GRCh38
NC_000002.11:g.179478664T>G , CM000664.1:g.179478664T>G GRCh37
NC_000002.10:g.179186909T>G NCBI36
NG_011618.3:g.221866A>C , LRG_391:g.221866A>C
NG_051363.1:g.96111T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.41642A>C (TTN) ENSP00000343764.6:p.Asp13881Ala
ENST00000342175.11:c.22727A>C (TTN) ENSP00000340554.6:p.Asp7576Ala
ENST00000359218.10:c.22526A>C (TTN) ENSP00000352154.5:p.Asp7509Ala
ENST00000342175.10:c.22727A>C (TTN) ENSP00000340554.6:p.Asp7576Ala
ENST00000342992.10:c.41642A>C (TTN) ENSP00000343764.6:p.Asp13881Ala
ENST00000359218.9:c.22526A>C (TTN) ENSP00000352154.5:p.Asp7509Ala
ENST00000460472.6:c.22151A>C (TTN) ENSP00000434586.1:p.Asp7384Ala
ENST00000589042.5:c.49346A>C (TTN) MANE Select ENSP00000467141.1:p.Asp16449Ala
ENST00000591111.5:c.44423A>C (TTN) ENSP00000465570.1:p.Asp14808Ala
ENST00000615779.4:c.44423A>C (TTN) ENSP00000483597.1:p.Asp14808Ala
NM_001256850.1:c.44423A>C (TTN) NP_001243779.1:p.Asp14808Ala
NM_001267550.2:c.49346A>C (TTN) MANE Select NP_001254479.2:p.Asp16449Ala
NM_003319.4:c.22151A>C (TTN) NP_003310.4:p.Asp7384Ala
NM_133378.4:c.41642A>C (TTN) NP_596869.4:p.Asp13881Ala
NM_133432.3:c.22526A>C (TTN) NP_597676.3:p.Asp7509Ala
NM_133437.4:c.22727A>C (TTN) NP_597681.4:p.Asp7576Ala
NR_038271.1:n.783-98T>G (TTN-AS1)
XM_011511729.1:c.48443A>C (TTN) XP_011510031.1:p.Asp16148Ala
XM_011511730.1:c.22337A>C (TTN) XP_011510032.1:p.Asp7446Ala
XM_011511731.1:c.22196A>C (TTN) XP_011510033.1:p.Asp7399Ala
XM_017004819.1:c.48239A>C (TTN) XP_016860308.1:p.Asp16080Ala
XM_017004820.1:c.43637A>C (TTN) XP_016860309.1:p.Asp14546Ala
XM_017004821.1:c.43634A>C (TTN) XP_016860310.1:p.Asp14545Ala
XM_017004822.1:c.40676A>C (TTN) XP_016860311.1:p.Asp13559Ala
XM_017004823.1:c.22292A>C (TTN) XP_016860312.1:p.Asp7431Ala
XM_024453094.1:c.43787A>C (TTN) XP_024308862.1:p.Asp14596Ala
XM_024453095.1:c.43784A>C (TTN) XP_024308863.1:p.Asp14595Ala
XM_024453096.1:c.43217A>C (TTN) XP_024308864.1:p.Asp14406Ala
XM_024453097.1:c.40559A>C (TTN) XP_024308865.1:p.Asp13520Ala
XM_024453098.1:c.40478A>C (TTN) XP_024308866.1:p.Asp13493Ala
XM_024453099.1:c.22241A>C (TTN) XP_024308867.1:p.Asp7414Ala
XM_024453100.1:c.12095A>C (TTN) XP_024308868.1:p.Asp4032Ala