Canonical Allele Identifier: CA349646354
Gene: TTN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178630931T>A , CM000664.2:g.178630931T>A GRCh38
NC_000002.11:g.179495658T>A , CM000664.1:g.179495658T>A GRCh37
NC_000002.10:g.179203903T>A NCBI36
NG_011618.3:g.204872A>T , LRG_391:g.204872A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.36323A>T ENSP00000343764.6:p.Lys12108Ile
ENST00000342175.11:c.17408A>T ENSP00000340554.6:p.Lys5803Ile
ENST00000359218.10:c.17207A>T ENSP00000352154.5:p.Lys5736Ile
ENST00000342175.10:c.17408A>T ENSP00000340554.6:p.Lys5803Ile
ENST00000342992.10:c.36323A>T ENSP00000343764.6:p.Lys12108Ile
ENST00000359218.9:c.17207A>T ENSP00000352154.5:p.Lys5736Ile
ENST00000460472.6:c.16832A>T ENSP00000434586.1:p.Lys5611Ile
ENST00000589042.5:c.44027A>T MANE Select ENSP00000467141.1:p.Lys14676Ile
ENST00000591111.5:c.39104A>T ENSP00000465570.1:p.Lys13035Ile
ENST00000615779.4:c.39104A>T ENSP00000483597.1:p.Lys13035Ile
NM_001256850.1:c.39104A>T NP_001243779.1:p.Lys13035Ile
NM_001267550.2:c.44027A>T MANE Select NP_001254479.2:p.Lys14676Ile
NM_003319.4:c.16832A>T NP_003310.4:p.Lys5611Ile
NM_133378.4:c.36323A>T NP_596869.4:p.Lys12108Ile
NM_133432.3:c.17207A>T NP_597676.3:p.Lys5736Ile
NM_133437.4:c.17408A>T NP_597681.4:p.Lys5803Ile
XM_011511729.1:c.43124A>T XP_011510031.1:p.Lys14375Ile
XM_011511730.1:c.17018A>T XP_011510032.1:p.Lys5673Ile
XM_011511731.1:c.16877A>T XP_011510033.1:p.Lys5626Ile
XM_017004819.1:c.42920A>T XP_016860308.1:p.Lys14307Ile
XM_017004820.1:c.38318A>T XP_016860309.1:p.Lys12773Ile
XM_017004821.1:c.38315A>T XP_016860310.1:p.Lys12772Ile
XM_017004822.1:c.35357A>T XP_016860311.1:p.Lys11786Ile
XM_017004823.1:c.16973A>T XP_016860312.1:p.Lys5658Ile
XM_024453094.1:c.38468A>T XP_024308862.1:p.Lys12823Ile
XM_024453095.1:c.38465A>T XP_024308863.1:p.Lys12822Ile
XM_024453096.1:c.37898A>T XP_024308864.1:p.Lys12633Ile
XM_024453097.1:c.35240A>T XP_024308865.1:p.Lys11747Ile
XM_024453098.1:c.35159A>T XP_024308866.1:p.Lys11720Ile
XM_024453099.1:c.16922A>T XP_024308867.1:p.Lys5641Ile
XM_024453100.1:c.6776A>T XP_024308868.1:p.Lys2259Ile