Canonical Allele Identifier: CA349428053

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178581514G>T , CM000664.2:g.178581514G>T GRCh38
NC_000002.11:g.179446241G>T , CM000664.1:g.179446241G>T GRCh37
NC_000002.10:g.179154487G>T NCBI36
NG_011618.3:g.254289C>A , LRG_391:g.254289C>A
NG_051363.1:g.63688G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.59050C>A (TTN) ENSP00000343764.6:p.Pro19684Thr
ENST00000342175.11:c.40135C>A (TTN) ENSP00000340554.6:p.Pro13379Thr
ENST00000359218.10:c.39934C>A (TTN) ENSP00000352154.5:p.Pro13312Thr
ENST00000342175.10:c.40135C>A (TTN) ENSP00000340554.6:p.Pro13379Thr
ENST00000342992.10:c.59050C>A (TTN) ENSP00000343764.6:p.Pro19684Thr
ENST00000359218.9:c.39934C>A (TTN) ENSP00000352154.5:p.Pro13312Thr
ENST00000460472.6:c.39559C>A (TTN) ENSP00000434586.1:p.Pro13187Thr
ENST00000589042.5:c.66754C>A (TTN) MANE Select ENSP00000467141.1:p.Pro22252Thr
ENST00000591111.5:c.61831C>A (TTN) ENSP00000465570.1:p.Pro20611Thr
ENST00000615779.4:c.61831C>A (TTN) ENSP00000483597.1:p.Pro20611Thr
NM_001256850.1:c.61831C>A (TTN) NP_001243779.1:p.Pro20611Thr
NM_001267550.2:c.66754C>A (TTN) MANE Select NP_001254479.2:p.Pro22252Thr
NM_003319.4:c.39559C>A (TTN) NP_003310.4:p.Pro13187Thr
NM_133378.4:c.59050C>A (TTN) NP_596869.4:p.Pro19684Thr
NM_133432.3:c.39934C>A (TTN) NP_597676.3:p.Pro13312Thr
NM_133437.4:c.40135C>A (TTN) NP_597681.4:p.Pro13379Thr
NR_038271.1:n.596+10065G>T (TTN-AS1)
NR_038272.1:n.2044-1058G>T (TTN-AS1)
XM_011511729.1:c.65851C>A (TTN) XP_011510031.1:p.Pro21951Thr
XM_011511730.1:c.39745C>A (TTN) XP_011510032.1:p.Pro13249Thr
XM_011511731.1:c.39604C>A (TTN) XP_011510033.1:p.Pro13202Thr
XM_017004819.1:c.65647C>A (TTN) XP_016860308.1:p.Pro21883Thr
XM_017004820.1:c.61045C>A (TTN) XP_016860309.1:p.Pro20349Thr
XM_017004821.1:c.61042C>A (TTN) XP_016860310.1:p.Pro20348Thr
XM_017004822.1:c.58084C>A (TTN) XP_016860311.1:p.Pro19362Thr
XM_017004823.1:c.39700C>A (TTN) XP_016860312.1:p.Pro13234Thr
XM_024453094.1:c.61195C>A (TTN) XP_024308862.1:p.Pro20399Thr
XM_024453095.1:c.61192C>A (TTN) XP_024308863.1:p.Pro20398Thr
XM_024453096.1:c.60625C>A (TTN) XP_024308864.1:p.Pro20209Thr
XM_024453097.1:c.57967C>A (TTN) XP_024308865.1:p.Pro19323Thr
XM_024453098.1:c.57886C>A (TTN) XP_024308866.1:p.Pro19296Thr
XM_024453099.1:c.39649C>A (TTN) XP_024308867.1:p.Pro13217Thr
XM_024453100.1:c.29503C>A (TTN) XP_024308868.1:p.Pro9835Thr