Canonical Allele Identifier: CA349405201

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530034T>G , CM000664.2:g.178530034T>G GRCh38
NC_000002.11:g.179394761T>G , CM000664.1:g.179394761T>G GRCh37
NC_000002.10:g.179103007T>G NCBI36
NG_011618.3:g.305769A>C , LRG_391:g.305769A>C
NG_051363.1:g.12208T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98753A>C (TTN) ENSP00000343764.6:p.Asp32918Ala
ENST00000342175.11:c.79838A>C (TTN) ENSP00000340554.6:p.Asp26613Ala
ENST00000359218.10:c.79637A>C (TTN) ENSP00000352154.5:p.Asp26546Ala
ENST00000342175.10:c.79838A>C (TTN) ENSP00000340554.6:p.Asp26613Ala
ENST00000342992.10:c.98753A>C (TTN) ENSP00000343764.6:p.Asp32918Ala
ENST00000359218.9:c.79637A>C (TTN) ENSP00000352154.5:p.Asp26546Ala
ENST00000460472.6:c.79262A>C (TTN) ENSP00000434586.1:p.Asp26421Ala
ENST00000589042.5:c.106457A>C (TTN) MANE Select ENSP00000467141.1:p.Asp35486Ala
ENST00000591111.5:c.101534A>C (TTN) ENSP00000465570.1:p.Asp33845Ala
ENST00000615779.4:c.101534A>C (TTN) ENSP00000483597.1:p.Asp33845Ala
NM_001256850.1:c.101534A>C (TTN) NP_001243779.1:p.Asp33845Ala
NM_001267550.2:c.106457A>C (TTN) MANE Select NP_001254479.2:p.Asp35486Ala
NM_003319.4:c.79262A>C (TTN) NP_003310.4:p.Asp26421Ala
NM_133378.4:c.98753A>C (TTN) NP_596869.4:p.Asp32918Ala
NM_133432.3:c.79637A>C (TTN) NP_597676.3:p.Asp26546Ala
NM_133437.4:c.79838A>C (TTN) NP_597681.4:p.Asp26613Ala
NR_038271.1:n.446+6398T>G (TTN-AS1)
NR_038272.1:n.220-5698T>G (TTN-AS1)
XM_011511729.1:c.105554A>C (TTN) XP_011510031.1:p.Asp35185Ala
XM_011511730.1:c.79448A>C (TTN) XP_011510032.1:p.Asp26483Ala
XM_011511731.1:c.79307A>C (TTN) XP_011510033.1:p.Asp26436Ala
XM_017004819.1:c.105350A>C (TTN) XP_016860308.1:p.Asp35117Ala
XM_017004820.1:c.100748A>C (TTN) XP_016860309.1:p.Asp33583Ala
XM_017004821.1:c.100745A>C (TTN) XP_016860310.1:p.Asp33582Ala
XM_017004822.1:c.97787A>C (TTN) XP_016860311.1:p.Asp32596Ala
XM_017004823.1:c.79403A>C (TTN) XP_016860312.1:p.Asp26468Ala
XM_024453094.1:c.100898A>C (TTN) XP_024308862.1:p.Asp33633Ala
XM_024453095.1:c.100895A>C (TTN) XP_024308863.1:p.Asp33632Ala
XM_024453096.1:c.100328A>C (TTN) XP_024308864.1:p.Asp33443Ala
XM_024453097.1:c.97670A>C (TTN) XP_024308865.1:p.Asp32557Ala
XM_024453098.1:c.97589A>C (TTN) XP_024308866.1:p.Asp32530Ala
XM_024453099.1:c.79352A>C (TTN) XP_024308867.1:p.Asp26451Ala
XM_024453100.1:c.69206A>C (TTN) XP_024308868.1:p.Asp23069Ala