Canonical Allele Identifier: CA349483594

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591117G>T , CM000664.2:g.178591117G>T GRCh38
NC_000002.11:g.179455844G>T , CM000664.1:g.179455844G>T GRCh37
NC_000002.10:g.179164090G>T NCBI36
NG_011618.3:g.244686C>A , LRG_391:g.244686C>A
NG_051363.1:g.73291G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.52904C>A (TTN) ENSP00000343764.6:p.Pro17635His
ENST00000342175.11:c.33989C>A (TTN) ENSP00000340554.6:p.Pro11330His
ENST00000359218.10:c.33788C>A (TTN) ENSP00000352154.5:p.Pro11263His
ENST00000342175.10:c.33989C>A (TTN) ENSP00000340554.6:p.Pro11330His
ENST00000342992.10:c.52904C>A (TTN) ENSP00000343764.6:p.Pro17635His
ENST00000359218.9:c.33788C>A (TTN) ENSP00000352154.5:p.Pro11263His
ENST00000460472.6:c.33413C>A (TTN) ENSP00000434586.1:p.Pro11138His
ENST00000589042.5:c.60608C>A (TTN) MANE Select ENSP00000467141.1:p.Pro20203His
ENST00000591111.5:c.55685C>A (TTN) ENSP00000465570.1:p.Pro18562His
ENST00000615779.4:c.55685C>A (TTN) ENSP00000483597.1:p.Pro18562His
NM_001256850.1:c.55685C>A (TTN) NP_001243779.1:p.Pro18562His
NM_001267550.2:c.60608C>A (TTN) MANE Select NP_001254479.2:p.Pro20203His
NM_003319.4:c.33413C>A (TTN) NP_003310.4:p.Pro11138His
NM_133378.4:c.52904C>A (TTN) NP_596869.4:p.Pro17635His
NM_133432.3:c.33788C>A (TTN) NP_597676.3:p.Pro11263His
NM_133437.4:c.33989C>A (TTN) NP_597681.4:p.Pro11330His
NR_038271.1:n.597-6479G>T (TTN-AS1)
NR_038272.1:n.3189-22G>T (TTN-AS1)
XM_011511729.1:c.59705C>A (TTN) XP_011510031.1:p.Pro19902His
XM_011511730.1:c.33599C>A (TTN) XP_011510032.1:p.Pro11200His
XM_011511731.1:c.33458C>A (TTN) XP_011510033.1:p.Pro11153His
XM_017004819.1:c.59501C>A (TTN) XP_016860308.1:p.Pro19834His
XM_017004820.1:c.54899C>A (TTN) XP_016860309.1:p.Pro18300His
XM_017004821.1:c.54896C>A (TTN) XP_016860310.1:p.Pro18299His
XM_017004822.1:c.51938C>A (TTN) XP_016860311.1:p.Pro17313His
XM_017004823.1:c.33554C>A (TTN) XP_016860312.1:p.Pro11185His
XM_024453094.1:c.55049C>A (TTN) XP_024308862.1:p.Pro18350His
XM_024453095.1:c.55046C>A (TTN) XP_024308863.1:p.Pro18349His
XM_024453096.1:c.54479C>A (TTN) XP_024308864.1:p.Pro18160His
XM_024453097.1:c.51821C>A (TTN) XP_024308865.1:p.Pro17274His
XM_024453098.1:c.51740C>A (TTN) XP_024308866.1:p.Pro17247His
XM_024453099.1:c.33503C>A (TTN) XP_024308867.1:p.Pro11168His
XM_024453100.1:c.23357C>A (TTN) XP_024308868.1:p.Pro7786His