Canonical Allele Identifier: CA430266263
Community Standard Title: NM_001267550.2(TTN):c.60786T>C (p.Pro20262=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178590939A>G , CM000664.2:g.178590939A>G GRCh38
NC_000002.11:g.179455666A>G , CM000664.1:g.179455666A>G GRCh37
NC_000002.10:g.179163912A>G NCBI36
NG_011618.3:g.244864T>C , LRG_391:g.244864T>C
NG_051363.1:g.73113A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.60786T>C (TTN) MANE Select NP_001254479.2:p.Pro20262=
ENST00000589042.5:c.60786T>C (TTN) MANE Select ENSP00000467141.1:p.Pro20262=
NM_001256850.1:c.55863T>C (TTN) NP_001243779.1:p.Pro18621=
NM_003319.4:c.33591T>C (TTN) NP_003310.4:p.Pro11197=
NM_133378.4:c.53082T>C (TTN) NP_596869.4:p.Pro17694=
NM_133432.3:c.33966T>C (TTN) NP_597676.3:p.Pro11322=
NM_133437.4:c.34167T>C (TTN) NP_597681.4:p.Pro11389=
NR_038271.1:n.597-6657A>G (TTN-AS1)
NR_038272.1:n.3189-200A>G (TTN-AS1)
ENST00000342175.10:c.34167T>C (TTN) ENSP00000340554.6:p.Pro11389=
ENST00000342175.11:c.34167T>C (TTN) ENSP00000340554.6:p.Pro11389=
ENST00000342992.10:c.53082T>C (TTN) ENSP00000343764.6:p.Pro17694=
ENST00000342992.11:c.53082T>C (TTN) ENSP00000343764.6:p.Pro17694=
ENST00000359218.10:c.33966T>C (TTN) ENSP00000352154.5:p.Pro11322=
ENST00000359218.9:c.33966T>C (TTN) ENSP00000352154.5:p.Pro11322=
ENST00000460472.6:c.33591T>C (TTN) ENSP00000434586.1:p.Pro11197=
ENST00000591111.5:c.55863T>C (TTN) ENSP00000465570.1:p.Pro18621=
ENST00000615779.4:c.55863T>C (TTN) ENSP00000483597.1:p.Pro18621=
XM_011511729.1:c.59883T>C (TTN) XP_011510031.1:p.Pro19961=
XM_011511730.1:c.33777T>C (TTN) XP_011510032.1:p.Pro11259=
XM_011511731.1:c.33636T>C (TTN) XP_011510033.1:p.Pro11212=
XM_017004819.1:c.59679T>C (TTN) XP_016860308.1:p.Pro19893=
XM_017004820.1:c.55077T>C (TTN) XP_016860309.1:p.Pro18359=
XM_017004821.1:c.55074T>C (TTN) XP_016860310.1:p.Pro18358=
XM_017004822.1:c.52116T>C (TTN) XP_016860311.1:p.Pro17372=
XM_017004823.1:c.33732T>C (TTN) XP_016860312.1:p.Pro11244=
XM_024453094.1:c.55227T>C (TTN) XP_024308862.1:p.Pro18409=
XM_024453095.1:c.55224T>C (TTN) XP_024308863.1:p.Pro18408=
XM_024453096.1:c.54657T>C (TTN) XP_024308864.1:p.Pro18219=
XM_024453097.1:c.51999T>C (TTN) XP_024308865.1:p.Pro17333=
XM_024453098.1:c.51918T>C (TTN) XP_024308866.1:p.Pro17306=
XM_024453099.1:c.33681T>C (TTN) XP_024308867.1:p.Pro11227=
XM_024453100.1:c.23535T>C (TTN) XP_024308868.1:p.Pro7845=