Canonical Allele Identifier: CA1994358
Community Standard Title: NM_001267550.2(TTN):c.50538T>C (p.Ile16846=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178611771A>G , CM000664.2:g.178611771A>G GRCh38
NC_000002.11:g.179476498A>G , CM000664.1:g.179476498A>G GRCh37
NC_000002.10:g.179184743A>G NCBI36
NG_011618.3:g.224032T>C , LRG_391:g.224032T>C
NG_051363.1:g.93945A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.50538T>C (TTN) MANE Select NP_001254479.2:p.Ile16846=
ENST00000589042.5:c.50538T>C (TTN) MANE Select ENSP00000467141.1:p.Ile16846=
NM_001256850.1:c.45615T>C (TTN) NP_001243779.1:p.Ile15205=
NM_003319.4:c.23343T>C (TTN) NP_003310.4:p.Ile7781=
NM_133378.4:c.42834T>C (TTN) NP_596869.4:p.Ile14278=
NM_133432.3:c.23718T>C (TTN) NP_597676.3:p.Ile7906=
NM_133437.4:c.23919T>C (TTN) NP_597681.4:p.Ile7973=
NR_038271.1:n.783-2264A>G (TTN-AS1)
ENST00000342175.10:c.23919T>C (TTN) ENSP00000340554.6:p.Ile7973=
ENST00000342175.11:c.23919T>C (TTN) ENSP00000340554.6:p.Ile7973=
ENST00000342992.10:c.42834T>C (TTN) ENSP00000343764.6:p.Ile14278=
ENST00000342992.11:c.42834T>C (TTN) ENSP00000343764.6:p.Ile14278=
ENST00000359218.10:c.23718T>C (TTN) ENSP00000352154.5:p.Ile7906=
ENST00000359218.9:c.23718T>C (TTN) ENSP00000352154.5:p.Ile7906=
ENST00000460472.6:c.23343T>C (TTN) ENSP00000434586.1:p.Ile7781=
ENST00000591111.5:c.45615T>C (TTN) ENSP00000465570.1:p.Ile15205=
ENST00000615779.4:c.45615T>C (TTN) ENSP00000483597.1:p.Ile15205=
XM_011511729.1:c.49635T>C (TTN) XP_011510031.1:p.Ile16545=
XM_011511730.1:c.23529T>C (TTN) XP_011510032.1:p.Ile7843=
XM_011511731.1:c.23388T>C (TTN) XP_011510033.1:p.Ile7796=
XM_017004819.1:c.49431T>C (TTN) XP_016860308.1:p.Ile16477=
XM_017004820.1:c.44829T>C (TTN) XP_016860309.1:p.Ile14943=
XM_017004821.1:c.44826T>C (TTN) XP_016860310.1:p.Ile14942=
XM_017004822.1:c.41868T>C (TTN) XP_016860311.1:p.Ile13956=
XM_017004823.1:c.23484T>C (TTN) XP_016860312.1:p.Ile7828=
XM_024453094.1:c.44979T>C (TTN) XP_024308862.1:p.Ile14993=
XM_024453095.1:c.44976T>C (TTN) XP_024308863.1:p.Ile14992=
XM_024453096.1:c.44409T>C (TTN) XP_024308864.1:p.Ile14803=
XM_024453097.1:c.41751T>C (TTN) XP_024308865.1:p.Ile13917=
XM_024453098.1:c.41670T>C (TTN) XP_024308866.1:p.Ile13890=
XM_024453099.1:c.23433T>C (TTN) XP_024308867.1:p.Ile7811=
XM_024453100.1:c.13287T>C (TTN) XP_024308868.1:p.Ile4429=