Canonical Allele Identifier: CA349658689

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178574893A>T , CM000664.2:g.178574893A>T GRCh38
NC_000002.11:g.179439620A>T , CM000664.1:g.179439620A>T GRCh37
NC_000002.10:g.179147866A>T NCBI36
NG_011618.3:g.260910T>A , LRG_391:g.260910T>A
NG_051363.1:g.57067A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.63535T>A (TTN) ENSP00000343764.6:p.Ser21179Thr
ENST00000342175.11:c.44620T>A (TTN) ENSP00000340554.6:p.Ser14874Thr
ENST00000359218.10:c.44419T>A (TTN) ENSP00000352154.5:p.Ser14807Thr
ENST00000342175.10:c.44620T>A (TTN) ENSP00000340554.6:p.Ser14874Thr
ENST00000342992.10:c.63535T>A (TTN) ENSP00000343764.6:p.Ser21179Thr
ENST00000359218.9:c.44419T>A (TTN) ENSP00000352154.5:p.Ser14807Thr
ENST00000460472.6:c.44044T>A (TTN) ENSP00000434586.1:p.Ser14682Thr
ENST00000589042.5:c.71239T>A (TTN) MANE Select ENSP00000467141.1:p.Ser23747Thr
ENST00000591111.5:c.66316T>A (TTN) ENSP00000465570.1:p.Ser22106Thr
ENST00000615779.4:c.66316T>A (TTN) ENSP00000483597.1:p.Ser22106Thr
NM_001256850.1:c.66316T>A (TTN) NP_001243779.1:p.Ser22106Thr
NM_001267550.2:c.71239T>A (TTN) MANE Select NP_001254479.2:p.Ser23747Thr
NM_003319.4:c.44044T>A (TTN) NP_003310.4:p.Ser14682Thr
NM_133378.4:c.63535T>A (TTN) NP_596869.4:p.Ser21179Thr
NM_133432.3:c.44419T>A (TTN) NP_597676.3:p.Ser14807Thr
NM_133437.4:c.44620T>A (TTN) NP_597681.4:p.Ser14874Thr
NR_038271.1:n.596+3444A>T (TTN-AS1)
NR_038272.1:n.2044-7679A>T (TTN-AS1)
XM_011511729.1:c.70336T>A (TTN) XP_011510031.1:p.Ser23446Thr
XM_011511730.1:c.44230T>A (TTN) XP_011510032.1:p.Ser14744Thr
XM_011511731.1:c.44089T>A (TTN) XP_011510033.1:p.Ser14697Thr
XM_017004819.1:c.70132T>A (TTN) XP_016860308.1:p.Ser23378Thr
XM_017004820.1:c.65530T>A (TTN) XP_016860309.1:p.Ser21844Thr
XM_017004821.1:c.65527T>A (TTN) XP_016860310.1:p.Ser21843Thr
XM_017004822.1:c.62569T>A (TTN) XP_016860311.1:p.Ser20857Thr
XM_017004823.1:c.44185T>A (TTN) XP_016860312.1:p.Ser14729Thr
XM_024453094.1:c.65680T>A (TTN) XP_024308862.1:p.Ser21894Thr
XM_024453095.1:c.65677T>A (TTN) XP_024308863.1:p.Ser21893Thr
XM_024453096.1:c.65110T>A (TTN) XP_024308864.1:p.Ser21704Thr
XM_024453097.1:c.62452T>A (TTN) XP_024308865.1:p.Ser20818Thr
XM_024453098.1:c.62371T>A (TTN) XP_024308866.1:p.Ser20791Thr
XM_024453099.1:c.44134T>A (TTN) XP_024308867.1:p.Ser14712Thr
XM_024453100.1:c.33988T>A (TTN) XP_024308868.1:p.Ser11330Thr