Canonical Allele Identifier: CA349585634

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178609972G>T , CM000664.2:g.178609972G>T GRCh38
NC_000002.11:g.179474699G>T , CM000664.1:g.179474699G>T GRCh37
NC_000002.10:g.179182944G>T NCBI36
NG_011618.3:g.225831C>A , LRG_391:g.225831C>A
NG_051363.1:g.92146G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.43747C>A (TTN) ENSP00000343764.6:p.Pro14583Thr
ENST00000342175.11:c.24832C>A (TTN) ENSP00000340554.6:p.Pro8278Thr
ENST00000359218.10:c.24631C>A (TTN) ENSP00000352154.5:p.Pro8211Thr
ENST00000342175.10:c.24832C>A (TTN) ENSP00000340554.6:p.Pro8278Thr
ENST00000342992.10:c.43747C>A (TTN) ENSP00000343764.6:p.Pro14583Thr
ENST00000359218.9:c.24631C>A (TTN) ENSP00000352154.5:p.Pro8211Thr
ENST00000460472.6:c.24256C>A (TTN) ENSP00000434586.1:p.Pro8086Thr
ENST00000589042.5:c.51451C>A (TTN) MANE Select ENSP00000467141.1:p.Pro17151Thr
ENST00000591111.5:c.46528C>A (TTN) ENSP00000465570.1:p.Pro15510Thr
ENST00000615779.4:c.46528C>A (TTN) ENSP00000483597.1:p.Pro15510Thr
NM_001256850.1:c.46528C>A (TTN) NP_001243779.1:p.Pro15510Thr
NM_001267550.2:c.51451C>A (TTN) MANE Select NP_001254479.2:p.Pro17151Thr
NM_003319.4:c.24256C>A (TTN) NP_003310.4:p.Pro8086Thr
NM_133378.4:c.43747C>A (TTN) NP_596869.4:p.Pro14583Thr
NM_133432.3:c.24631C>A (TTN) NP_597676.3:p.Pro8211Thr
NM_133437.4:c.24832C>A (TTN) NP_597681.4:p.Pro8278Thr
NR_038271.1:n.782+1706G>T (TTN-AS1)
XM_011511729.1:c.50548C>A (TTN) XP_011510031.1:p.Pro16850Thr
XM_011511730.1:c.24442C>A (TTN) XP_011510032.1:p.Pro8148Thr
XM_011511731.1:c.24301C>A (TTN) XP_011510033.1:p.Pro8101Thr
XM_017004819.1:c.50344C>A (TTN) XP_016860308.1:p.Pro16782Thr
XM_017004820.1:c.45742C>A (TTN) XP_016860309.1:p.Pro15248Thr
XM_017004821.1:c.45739C>A (TTN) XP_016860310.1:p.Pro15247Thr
XM_017004822.1:c.42781C>A (TTN) XP_016860311.1:p.Pro14261Thr
XM_017004823.1:c.24397C>A (TTN) XP_016860312.1:p.Pro8133Thr
XM_024453094.1:c.45892C>A (TTN) XP_024308862.1:p.Pro15298Thr
XM_024453095.1:c.45889C>A (TTN) XP_024308863.1:p.Pro15297Thr
XM_024453096.1:c.45322C>A (TTN) XP_024308864.1:p.Pro15108Thr
XM_024453097.1:c.42664C>A (TTN) XP_024308865.1:p.Pro14222Thr
XM_024453098.1:c.42583C>A (TTN) XP_024308866.1:p.Pro14195Thr
XM_024453099.1:c.24346C>A (TTN) XP_024308867.1:p.Pro8116Thr
XM_024453100.1:c.14200C>A (TTN) XP_024308868.1:p.Pro4734Thr