Canonical Allele Identifier: CA310067

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178604169G>T , CM000664.2:g.178604169G>T GRCh38
NC_000002.11:g.179468896G>T , CM000664.1:g.179468896G>T GRCh37
NC_000002.10:g.179177141G>T NCBI36
NG_011618.3:g.231634C>A , LRG_391:g.231634C>A
NG_051363.1:g.86343G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.46814C>A (TTN) ENSP00000343764.6:p.Pro15605Gln
ENST00000342175.11:c.27899C>A (TTN) ENSP00000340554.6:p.Pro9300Gln
ENST00000359218.10:c.27698C>A (TTN) ENSP00000352154.5:p.Pro9233Gln
ENST00000342175.10:c.27899C>A (TTN) ENSP00000340554.6:p.Pro9300Gln
ENST00000342992.10:c.46814C>A (TTN) ENSP00000343764.6:p.Pro15605Gln
ENST00000359218.9:c.27698C>A (TTN) ENSP00000352154.5:p.Pro9233Gln
ENST00000460472.6:c.27323C>A (TTN) ENSP00000434586.1:p.Pro9108Gln
ENST00000589042.5:c.54518C>A (TTN) MANE Select ENSP00000467141.1:p.Pro18173Gln
ENST00000591111.5:c.49595C>A (TTN) ENSP00000465570.1:p.Pro16532Gln
ENST00000615779.4:c.49595C>A (TTN) ENSP00000483597.1:p.Pro16532Gln
NM_001256850.1:c.49595C>A (TTN) NP_001243779.1:p.Pro16532Gln
NM_001267550.2:c.54518C>A (TTN) MANE Select NP_001254479.2:p.Pro18173Gln
NM_003319.4:c.27323C>A (TTN) NP_003310.4:p.Pro9108Gln
NM_133378.4:c.46814C>A (TTN) NP_596869.4:p.Pro15605Gln
NM_133432.3:c.27698C>A (TTN) NP_597676.3:p.Pro9233Gln
NM_133437.4:c.27899C>A (TTN) NP_597681.4:p.Pro9300Gln
NR_038271.1:n.683-3998G>T (TTN-AS1)
NR_038272.1:n.3918-562G>T (TTN-AS1)
XM_011511729.1:c.53615C>A (TTN) XP_011510031.1:p.Pro17872Gln
XM_011511730.1:c.27509C>A (TTN) XP_011510032.1:p.Pro9170Gln
XM_011511731.1:c.27368C>A (TTN) XP_011510033.1:p.Pro9123Gln
XM_017004819.1:c.53411C>A (TTN) XP_016860308.1:p.Pro17804Gln
XM_017004820.1:c.48809C>A (TTN) XP_016860309.1:p.Pro16270Gln
XM_017004821.1:c.48806C>A (TTN) XP_016860310.1:p.Pro16269Gln
XM_017004822.1:c.45848C>A (TTN) XP_016860311.1:p.Pro15283Gln
XM_017004823.1:c.27464C>A (TTN) XP_016860312.1:p.Pro9155Gln
XM_024453094.1:c.48959C>A (TTN) XP_024308862.1:p.Pro16320Gln
XM_024453095.1:c.48956C>A (TTN) XP_024308863.1:p.Pro16319Gln
XM_024453096.1:c.48389C>A (TTN) XP_024308864.1:p.Pro16130Gln
XM_024453097.1:c.45731C>A (TTN) XP_024308865.1:p.Pro15244Gln
XM_024453098.1:c.45650C>A (TTN) XP_024308866.1:p.Pro15217Gln
XM_024453099.1:c.27413C>A (TTN) XP_024308867.1:p.Pro9138Gln
XM_024453100.1:c.17267C>A (TTN) XP_024308868.1:p.Pro5756Gln