Canonical Allele Identifier: CA349446055

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543298T>G , CM000664.2:g.178543298T>G GRCh38
NC_000002.11:g.179408025T>G , CM000664.1:g.179408025T>G GRCh37
NC_000002.10:g.179116271T>G NCBI36
NG_011618.3:g.292505A>C , LRG_391:g.292505A>C
NG_051363.1:g.25472T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88971A>C (TTN) ENSP00000343764.6:p.Lys29657Asn
ENST00000342175.11:c.70056A>C (TTN) ENSP00000340554.6:p.Lys23352Asn
ENST00000359218.10:c.69855A>C (TTN) ENSP00000352154.5:p.Lys23285Asn
ENST00000342175.10:c.70056A>C (TTN) ENSP00000340554.6:p.Lys23352Asn
ENST00000342992.10:c.88971A>C (TTN) ENSP00000343764.6:p.Lys29657Asn
ENST00000359218.9:c.69855A>C (TTN) ENSP00000352154.5:p.Lys23285Asn
ENST00000460472.6:c.69480A>C (TTN) ENSP00000434586.1:p.Lys23160Asn
ENST00000589042.5:c.96675A>C (TTN) MANE Select ENSP00000467141.1:p.Lys32225Asn
ENST00000591111.5:c.91752A>C (TTN) ENSP00000465570.1:p.Lys30584Asn
ENST00000615779.4:c.91752A>C (TTN) ENSP00000483597.1:p.Lys30584Asn
NM_001256850.1:c.91752A>C (TTN) NP_001243779.1:p.Lys30584Asn
NM_001267550.2:c.96675A>C (TTN) MANE Select NP_001254479.2:p.Lys32225Asn
NM_003319.4:c.69480A>C (TTN) NP_003310.4:p.Lys23160Asn
NM_133378.4:c.88971A>C (TTN) NP_596869.4:p.Lys29657Asn
NM_133432.3:c.69855A>C (TTN) NP_597676.3:p.Lys23285Asn
NM_133437.4:c.70056A>C (TTN) NP_597681.4:p.Lys23352Asn
NR_038271.1:n.446+19662T>G (TTN-AS1)
NR_038272.1:n.2043+937T>G (TTN-AS1)
XM_011511729.1:c.95772A>C (TTN) XP_011510031.1:p.Lys31924Asn
XM_011511730.1:c.69666A>C (TTN) XP_011510032.1:p.Lys23222Asn
XM_011511731.1:c.69525A>C (TTN) XP_011510033.1:p.Lys23175Asn
XM_017004819.1:c.95568A>C (TTN) XP_016860308.1:p.Lys31856Asn
XM_017004820.1:c.90966A>C (TTN) XP_016860309.1:p.Lys30322Asn
XM_017004821.1:c.90963A>C (TTN) XP_016860310.1:p.Lys30321Asn
XM_017004822.1:c.88005A>C (TTN) XP_016860311.1:p.Lys29335Asn
XM_017004823.1:c.69621A>C (TTN) XP_016860312.1:p.Lys23207Asn
XM_024453094.1:c.91116A>C (TTN) XP_024308862.1:p.Lys30372Asn
XM_024453095.1:c.91113A>C (TTN) XP_024308863.1:p.Lys30371Asn
XM_024453096.1:c.90546A>C (TTN) XP_024308864.1:p.Lys30182Asn
XM_024453097.1:c.87888A>C (TTN) XP_024308865.1:p.Lys29296Asn
XM_024453098.1:c.87807A>C (TTN) XP_024308866.1:p.Lys29269Asn
XM_024453099.1:c.69570A>C (TTN) XP_024308867.1:p.Lys23190Asn
XM_024453100.1:c.59424A>C (TTN) XP_024308868.1:p.Lys19808Asn