Canonical Allele Identifier: CA349488503

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591886G>T , CM000664.2:g.178591886G>T GRCh38
NC_000002.11:g.179456613G>T , CM000664.1:g.179456613G>T GRCh37
NC_000002.10:g.179164859G>T NCBI36
NG_011618.3:g.243917C>A , LRG_391:g.243917C>A
NG_051363.1:g.74060G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.52229C>A (TTN) ENSP00000343764.6:p.Pro17410Gln
ENST00000342175.11:c.33314C>A (TTN) ENSP00000340554.6:p.Pro11105Gln
ENST00000359218.10:c.33113C>A (TTN) ENSP00000352154.5:p.Pro11038Gln
ENST00000342175.10:c.33314C>A (TTN) ENSP00000340554.6:p.Pro11105Gln
ENST00000342992.10:c.52229C>A (TTN) ENSP00000343764.6:p.Pro17410Gln
ENST00000359218.9:c.33113C>A (TTN) ENSP00000352154.5:p.Pro11038Gln
ENST00000460472.6:c.32738C>A (TTN) ENSP00000434586.1:p.Pro10913Gln
ENST00000589042.5:c.59933C>A (TTN) MANE Select ENSP00000467141.1:p.Pro19978Gln
ENST00000591111.5:c.55010C>A (TTN) ENSP00000465570.1:p.Pro18337Gln
ENST00000615779.4:c.55010C>A (TTN) ENSP00000483597.1:p.Pro18337Gln
NM_001256850.1:c.55010C>A (TTN) NP_001243779.1:p.Pro18337Gln
NM_001267550.2:c.59933C>A (TTN) MANE Select NP_001254479.2:p.Pro19978Gln
NM_003319.4:c.32738C>A (TTN) NP_003310.4:p.Pro10913Gln
NM_133378.4:c.52229C>A (TTN) NP_596869.4:p.Pro17410Gln
NM_133432.3:c.33113C>A (TTN) NP_597676.3:p.Pro11038Gln
NM_133437.4:c.33314C>A (TTN) NP_597681.4:p.Pro11105Gln
NR_038271.1:n.597-5710G>T (TTN-AS1)
NR_038272.1:n.3364+572G>T (TTN-AS1)
XM_011511729.1:c.59030C>A (TTN) XP_011510031.1:p.Pro19677Gln
XM_011511730.1:c.32924C>A (TTN) XP_011510032.1:p.Pro10975Gln
XM_011511731.1:c.32783C>A (TTN) XP_011510033.1:p.Pro10928Gln
XM_017004819.1:c.58826C>A (TTN) XP_016860308.1:p.Pro19609Gln
XM_017004820.1:c.54224C>A (TTN) XP_016860309.1:p.Pro18075Gln
XM_017004821.1:c.54221C>A (TTN) XP_016860310.1:p.Pro18074Gln
XM_017004822.1:c.51263C>A (TTN) XP_016860311.1:p.Pro17088Gln
XM_017004823.1:c.32879C>A (TTN) XP_016860312.1:p.Pro10960Gln
XM_024453094.1:c.54374C>A (TTN) XP_024308862.1:p.Pro18125Gln
XM_024453095.1:c.54371C>A (TTN) XP_024308863.1:p.Pro18124Gln
XM_024453096.1:c.53804C>A (TTN) XP_024308864.1:p.Pro17935Gln
XM_024453097.1:c.51146C>A (TTN) XP_024308865.1:p.Pro17049Gln
XM_024453098.1:c.51065C>A (TTN) XP_024308866.1:p.Pro17022Gln
XM_024453099.1:c.32828C>A (TTN) XP_024308867.1:p.Pro10943Gln
XM_024453100.1:c.22682C>A (TTN) XP_024308868.1:p.Pro7561Gln