Canonical Allele Identifier: CA1310549491

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178614738A= , CM000664.2:g.178614738A= GRCh38
NC_000002.11:g.179479465A= , CM000664.1:g.179479465A= GRCh37
NC_000002.10:g.179187710A= NCBI36
NG_011618.3:g.221065T= , LRG_391:g.221065T=
NG_051363.1:g.96912A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.41072T= (TTN) ENSP00000343764.6:p.Phe13691=
ENST00000342175.11:c.22157T= (TTN) ENSP00000340554.6:p.Phe7386=
ENST00000359218.10:c.21956T= (TTN) ENSP00000352154.5:p.Phe7319=
ENST00000342175.10:c.22157T= (TTN) ENSP00000340554.6:p.Phe7386=
ENST00000342992.10:c.41072T= (TTN) ENSP00000343764.6:p.Phe13691=
ENST00000359218.9:c.21956T= (TTN) ENSP00000352154.5:p.Phe7319=
ENST00000460472.6:c.21581T= (TTN) ENSP00000434586.1:p.Phe7194=
ENST00000589042.5:c.48776T= (TTN) MANE Select ENSP00000467141.1:p.Phe16259=
ENST00000591111.5:c.43853T= (TTN) ENSP00000465570.1:p.Phe14618=
ENST00000615779.4:c.43853T= (TTN) ENSP00000483597.1:p.Phe14618=
NM_001256850.1:c.43853T= (TTN) NP_001243779.1:p.Phe14618=
NM_001267550.2:c.48776T= (TTN) MANE Select NP_001254479.2:p.Phe16259=
NM_003319.4:c.21581T= (TTN) NP_003310.4:p.Phe7194=
NM_133378.4:c.41072T= (TTN) NP_596869.4:p.Phe13691=
NM_133432.3:c.21956T= (TTN) NP_597676.3:p.Phe7319=
NM_133437.4:c.22157T= (TTN) NP_597681.4:p.Phe7386=
NR_038271.1:n.1486A= (TTN-AS1)
XM_011511729.1:c.47873T= (TTN) XP_011510031.1:p.Phe15958=
XM_011511730.1:c.21767T= (TTN) XP_011510032.1:p.Phe7256=
XM_011511731.1:c.21626T= (TTN) XP_011510033.1:p.Phe7209=
XM_017004819.1:c.47669T= (TTN) XP_016860308.1:p.Phe15890=
XM_017004820.1:c.43067T= (TTN) XP_016860309.1:p.Phe14356=
XM_017004821.1:c.43064T= (TTN) XP_016860310.1:p.Phe14355=
XM_017004822.1:c.40106T= (TTN) XP_016860311.1:p.Phe13369=
XM_017004823.1:c.21722T= (TTN) XP_016860312.1:p.Phe7241=
XM_024453094.1:c.43217T= (TTN) XP_024308862.1:p.Phe14406=
XM_024453095.1:c.43214T= (TTN) XP_024308863.1:p.Phe14405=
XM_024453096.1:c.42647T= (TTN) XP_024308864.1:p.Phe14216=
XM_024453097.1:c.39989T= (TTN) XP_024308865.1:p.Phe13330=
XM_024453098.1:c.39908T= (TTN) XP_024308866.1:p.Phe13303=
XM_024453099.1:c.21671T= (TTN) XP_024308867.1:p.Phe7224=
XM_024453100.1:c.11525T= (TTN) XP_024308868.1:p.Phe3842=