Canonical Allele Identifier: CA349608958

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178615359G>T , CM000664.2:g.178615359G>T GRCh38
NC_000002.11:g.179480086G>T , CM000664.1:g.179480086G>T GRCh37
NC_000002.10:g.179188331G>T NCBI36
NG_011618.3:g.220444C>A , LRG_391:g.220444C>A
NG_051363.1:g.97533G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.40882C>A (TTN) ENSP00000343764.6:p.Pro13628Thr
ENST00000342175.11:c.21967C>A (TTN) ENSP00000340554.6:p.Pro7323Thr
ENST00000359218.10:c.21766C>A (TTN) ENSP00000352154.5:p.Pro7256Thr
ENST00000342175.10:c.21967C>A (TTN) ENSP00000340554.6:p.Pro7323Thr
ENST00000342992.10:c.40882C>A (TTN) ENSP00000343764.6:p.Pro13628Thr
ENST00000359218.9:c.21766C>A (TTN) ENSP00000352154.5:p.Pro7256Thr
ENST00000460472.6:c.21391C>A (TTN) ENSP00000434586.1:p.Pro7131Thr
ENST00000589042.5:c.48586C>A (TTN) MANE Select ENSP00000467141.1:p.Pro16196Thr
ENST00000591111.5:c.43663C>A (TTN) ENSP00000465570.1:p.Pro14555Thr
ENST00000615779.4:c.43663C>A (TTN) ENSP00000483597.1:p.Pro14555Thr
NM_001256850.1:c.43663C>A (TTN) NP_001243779.1:p.Pro14555Thr
NM_001267550.2:c.48586C>A (TTN) MANE Select NP_001254479.2:p.Pro16196Thr
NM_003319.4:c.21391C>A (TTN) NP_003310.4:p.Pro7131Thr
NM_133378.4:c.40882C>A (TTN) NP_596869.4:p.Pro13628Thr
NM_133432.3:c.21766C>A (TTN) NP_597676.3:p.Pro7256Thr
NM_133437.4:c.21967C>A (TTN) NP_597681.4:p.Pro7323Thr
NR_038271.1:n.1589G>T (TTN-AS1)
XM_011511729.1:c.47683C>A (TTN) XP_011510031.1:p.Pro15895Thr
XM_011511730.1:c.21577C>A (TTN) XP_011510032.1:p.Pro7193Thr
XM_011511731.1:c.21436C>A (TTN) XP_011510033.1:p.Pro7146Thr
XM_017004819.1:c.47479C>A (TTN) XP_016860308.1:p.Pro15827Thr
XM_017004820.1:c.42877C>A (TTN) XP_016860309.1:p.Pro14293Thr
XM_017004821.1:c.42874C>A (TTN) XP_016860310.1:p.Pro14292Thr
XM_017004822.1:c.39916C>A (TTN) XP_016860311.1:p.Pro13306Thr
XM_017004823.1:c.21532C>A (TTN) XP_016860312.1:p.Pro7178Thr
XM_024453094.1:c.43027C>A (TTN) XP_024308862.1:p.Pro14343Thr
XM_024453095.1:c.43024C>A (TTN) XP_024308863.1:p.Pro14342Thr
XM_024453096.1:c.42457C>A (TTN) XP_024308864.1:p.Pro14153Thr
XM_024453097.1:c.39799C>A (TTN) XP_024308865.1:p.Pro13267Thr
XM_024453098.1:c.39718C>A (TTN) XP_024308866.1:p.Pro13240Thr
XM_024453099.1:c.21481C>A (TTN) XP_024308867.1:p.Pro7161Thr
XM_024453100.1:c.11335C>A (TTN) XP_024308868.1:p.Pro3779Thr