Canonical Allele Identifier: CA349427886

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537615G>T , CM000664.2:g.178537615G>T GRCh38
NC_000002.11:g.179402342G>T , CM000664.1:g.179402342G>T GRCh37
NC_000002.10:g.179110588G>T NCBI36
NG_011618.3:g.298188C>A , LRG_391:g.298188C>A
NG_051363.1:g.19789G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.91888C>A (TTN) ENSP00000343764.6:p.Pro30630Thr
ENST00000342175.11:c.72973C>A (TTN) ENSP00000340554.6:p.Pro24325Thr
ENST00000359218.10:c.72772C>A (TTN) ENSP00000352154.5:p.Pro24258Thr
ENST00000342175.10:c.72973C>A (TTN) ENSP00000340554.6:p.Pro24325Thr
ENST00000342992.10:c.91888C>A (TTN) ENSP00000343764.6:p.Pro30630Thr
ENST00000359218.9:c.72772C>A (TTN) ENSP00000352154.5:p.Pro24258Thr
ENST00000460472.6:c.72397C>A (TTN) ENSP00000434586.1:p.Pro24133Thr
ENST00000589042.5:c.99592C>A (TTN) MANE Select ENSP00000467141.1:p.Pro33198Thr
ENST00000591111.5:c.94669C>A (TTN) ENSP00000465570.1:p.Pro31557Thr
ENST00000615779.4:c.94669C>A (TTN) ENSP00000483597.1:p.Pro31557Thr
NM_001256850.1:c.94669C>A (TTN) NP_001243779.1:p.Pro31557Thr
NM_001267550.2:c.99592C>A (TTN) MANE Select NP_001254479.2:p.Pro33198Thr
NM_003319.4:c.72397C>A (TTN) NP_003310.4:p.Pro24133Thr
NM_133378.4:c.91888C>A (TTN) NP_596869.4:p.Pro30630Thr
NM_133432.3:c.72772C>A (TTN) NP_597676.3:p.Pro24258Thr
NM_133437.4:c.72973C>A (TTN) NP_597681.4:p.Pro24325Thr
NR_038271.1:n.446+13979G>T (TTN-AS1)
NR_038272.1:n.571G>T (TTN-AS1)
XM_011511729.1:c.98689C>A (TTN) XP_011510031.1:p.Pro32897Thr
XM_011511730.1:c.72583C>A (TTN) XP_011510032.1:p.Pro24195Thr
XM_011511731.1:c.72442C>A (TTN) XP_011510033.1:p.Pro24148Thr
XM_017004819.1:c.98485C>A (TTN) XP_016860308.1:p.Pro32829Thr
XM_017004820.1:c.93883C>A (TTN) XP_016860309.1:p.Pro31295Thr
XM_017004821.1:c.93880C>A (TTN) XP_016860310.1:p.Pro31294Thr
XM_017004822.1:c.90922C>A (TTN) XP_016860311.1:p.Pro30308Thr
XM_017004823.1:c.72538C>A (TTN) XP_016860312.1:p.Pro24180Thr
XM_024453094.1:c.94033C>A (TTN) XP_024308862.1:p.Pro31345Thr
XM_024453095.1:c.94030C>A (TTN) XP_024308863.1:p.Pro31344Thr
XM_024453096.1:c.93463C>A (TTN) XP_024308864.1:p.Pro31155Thr
XM_024453097.1:c.90805C>A (TTN) XP_024308865.1:p.Pro30269Thr
XM_024453098.1:c.90724C>A (TTN) XP_024308866.1:p.Pro30242Thr
XM_024453099.1:c.72487C>A (TTN) XP_024308867.1:p.Pro24163Thr
XM_024453100.1:c.62341C>A (TTN) XP_024308868.1:p.Pro20781Thr