Canonical Allele Identifier: CA349613811

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178569323A>T , CM000664.2:g.178569323A>T GRCh38
NC_000002.11:g.179434050A>T , CM000664.1:g.179434050A>T GRCh37
NC_000002.10:g.179142296A>T NCBI36
NG_011618.3:g.266480T>A , LRG_391:g.266480T>A
NG_051363.1:g.51497A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.69105T>A (TTN) ENSP00000343764.6:p.Ser23035Arg
ENST00000342175.11:c.50190T>A (TTN) ENSP00000340554.6:p.Ser16730Arg
ENST00000359218.10:c.49989T>A (TTN) ENSP00000352154.5:p.Ser16663Arg
ENST00000342175.10:c.50190T>A (TTN) ENSP00000340554.6:p.Ser16730Arg
ENST00000342992.10:c.69105T>A (TTN) ENSP00000343764.6:p.Ser23035Arg
ENST00000359218.9:c.49989T>A (TTN) ENSP00000352154.5:p.Ser16663Arg
ENST00000460472.6:c.49614T>A (TTN) ENSP00000434586.1:p.Ser16538Arg
ENST00000589042.5:c.76809T>A (TTN) MANE Select ENSP00000467141.1:p.Ser25603Arg
ENST00000591111.5:c.71886T>A (TTN) ENSP00000465570.1:p.Ser23962Arg
ENST00000615779.4:c.71886T>A (TTN) ENSP00000483597.1:p.Ser23962Arg
NM_001256850.1:c.71886T>A (TTN) NP_001243779.1:p.Ser23962Arg
NM_001267550.2:c.76809T>A (TTN) MANE Select NP_001254479.2:p.Ser25603Arg
NM_003319.4:c.49614T>A (TTN) NP_003310.4:p.Ser16538Arg
NM_133378.4:c.69105T>A (TTN) NP_596869.4:p.Ser23035Arg
NM_133432.3:c.49989T>A (TTN) NP_597676.3:p.Ser16663Arg
NM_133437.4:c.50190T>A (TTN) NP_597681.4:p.Ser16730Arg
NR_038271.1:n.447-1977A>T (TTN-AS1)
NR_038272.1:n.2044-13249A>T (TTN-AS1)
XM_011511729.1:c.75906T>A (TTN) XP_011510031.1:p.Ser25302Arg
XM_011511730.1:c.49800T>A (TTN) XP_011510032.1:p.Ser16600Arg
XM_011511731.1:c.49659T>A (TTN) XP_011510033.1:p.Ser16553Arg
XM_017004819.1:c.75702T>A (TTN) XP_016860308.1:p.Ser25234Arg
XM_017004820.1:c.71100T>A (TTN) XP_016860309.1:p.Ser23700Arg
XM_017004821.1:c.71097T>A (TTN) XP_016860310.1:p.Ser23699Arg
XM_017004822.1:c.68139T>A (TTN) XP_016860311.1:p.Ser22713Arg
XM_017004823.1:c.49755T>A (TTN) XP_016860312.1:p.Ser16585Arg
XM_024453094.1:c.71250T>A (TTN) XP_024308862.1:p.Ser23750Arg
XM_024453095.1:c.71247T>A (TTN) XP_024308863.1:p.Ser23749Arg
XM_024453096.1:c.70680T>A (TTN) XP_024308864.1:p.Ser23560Arg
XM_024453097.1:c.68022T>A (TTN) XP_024308865.1:p.Ser22674Arg
XM_024453098.1:c.67941T>A (TTN) XP_024308866.1:p.Ser22647Arg
XM_024453099.1:c.49704T>A (TTN) XP_024308867.1:p.Ser16568Arg
XM_024453100.1:c.39558T>A (TTN) XP_024308868.1:p.Ser13186Arg