Canonical Allele Identifier: CA349488445

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591878G>T , CM000664.2:g.178591878G>T GRCh38
NC_000002.11:g.179456605G>T , CM000664.1:g.179456605G>T GRCh37
NC_000002.10:g.179164851G>T NCBI36
NG_011618.3:g.243925C>A , LRG_391:g.243925C>A
NG_051363.1:g.74052G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.52237C>A (TTN) ENSP00000343764.6:p.Pro17413Thr
ENST00000342175.11:c.33322C>A (TTN) ENSP00000340554.6:p.Pro11108Thr
ENST00000359218.10:c.33121C>A (TTN) ENSP00000352154.5:p.Pro11041Thr
ENST00000342175.10:c.33322C>A (TTN) ENSP00000340554.6:p.Pro11108Thr
ENST00000342992.10:c.52237C>A (TTN) ENSP00000343764.6:p.Pro17413Thr
ENST00000359218.9:c.33121C>A (TTN) ENSP00000352154.5:p.Pro11041Thr
ENST00000460472.6:c.32746C>A (TTN) ENSP00000434586.1:p.Pro10916Thr
ENST00000589042.5:c.59941C>A (TTN) MANE Select ENSP00000467141.1:p.Pro19981Thr
ENST00000591111.5:c.55018C>A (TTN) ENSP00000465570.1:p.Pro18340Thr
ENST00000615779.4:c.55018C>A (TTN) ENSP00000483597.1:p.Pro18340Thr
NM_001256850.1:c.55018C>A (TTN) NP_001243779.1:p.Pro18340Thr
NM_001267550.2:c.59941C>A (TTN) MANE Select NP_001254479.2:p.Pro19981Thr
NM_003319.4:c.32746C>A (TTN) NP_003310.4:p.Pro10916Thr
NM_133378.4:c.52237C>A (TTN) NP_596869.4:p.Pro17413Thr
NM_133432.3:c.33121C>A (TTN) NP_597676.3:p.Pro11041Thr
NM_133437.4:c.33322C>A (TTN) NP_597681.4:p.Pro11108Thr
NR_038271.1:n.597-5718G>T (TTN-AS1)
NR_038272.1:n.3364+564G>T (TTN-AS1)
XM_011511729.1:c.59038C>A (TTN) XP_011510031.1:p.Pro19680Thr
XM_011511730.1:c.32932C>A (TTN) XP_011510032.1:p.Pro10978Thr
XM_011511731.1:c.32791C>A (TTN) XP_011510033.1:p.Pro10931Thr
XM_017004819.1:c.58834C>A (TTN) XP_016860308.1:p.Pro19612Thr
XM_017004820.1:c.54232C>A (TTN) XP_016860309.1:p.Pro18078Thr
XM_017004821.1:c.54229C>A (TTN) XP_016860310.1:p.Pro18077Thr
XM_017004822.1:c.51271C>A (TTN) XP_016860311.1:p.Pro17091Thr
XM_017004823.1:c.32887C>A (TTN) XP_016860312.1:p.Pro10963Thr
XM_024453094.1:c.54382C>A (TTN) XP_024308862.1:p.Pro18128Thr
XM_024453095.1:c.54379C>A (TTN) XP_024308863.1:p.Pro18127Thr
XM_024453096.1:c.53812C>A (TTN) XP_024308864.1:p.Pro17938Thr
XM_024453097.1:c.51154C>A (TTN) XP_024308865.1:p.Pro17052Thr
XM_024453098.1:c.51073C>A (TTN) XP_024308866.1:p.Pro17025Thr
XM_024453099.1:c.32836C>A (TTN) XP_024308867.1:p.Pro10946Thr
XM_024453100.1:c.22690C>A (TTN) XP_024308868.1:p.Pro7564Thr