Canonical Allele Identifier: CA349400691

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527624A>T , CM000664.2:g.178527624A>T GRCh38
NC_000002.11:g.179392351A>T , CM000664.1:g.179392351A>T GRCh37
NC_000002.10:g.179100597A>T NCBI36
NG_011618.3:g.308179T>A , LRG_391:g.308179T>A
NG_051363.1:g.9798A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.99798T>A (TTN) ENSP00000343764.6:p.Ser33266Arg
ENST00000342175.11:c.80883T>A (TTN) ENSP00000340554.6:p.Ser26961Arg
ENST00000359218.10:c.80682T>A (TTN) ENSP00000352154.5:p.Ser26894Arg
ENST00000342175.10:c.80883T>A (TTN) ENSP00000340554.6:p.Ser26961Arg
ENST00000342992.10:c.99798T>A (TTN) ENSP00000343764.6:p.Ser33266Arg
ENST00000359218.9:c.80682T>A (TTN) ENSP00000352154.5:p.Ser26894Arg
ENST00000460472.6:c.80307T>A (TTN) ENSP00000434586.1:p.Ser26769Arg
ENST00000589042.5:c.107502T>A (TTN) MANE Select ENSP00000467141.1:p.Ser35834Arg
ENST00000591111.5:c.102579T>A (TTN) ENSP00000465570.1:p.Ser34193Arg
ENST00000615779.4:c.102579T>A (TTN) ENSP00000483597.1:p.Ser34193Arg
NM_001256850.1:c.102579T>A (TTN) NP_001243779.1:p.Ser34193Arg
NM_001267550.2:c.107502T>A (TTN) MANE Select NP_001254479.2:p.Ser35834Arg
NM_003319.4:c.80307T>A (TTN) NP_003310.4:p.Ser26769Arg
NM_133378.4:c.99798T>A (TTN) NP_596869.4:p.Ser33266Arg
NM_133432.3:c.80682T>A (TTN) NP_597676.3:p.Ser26894Arg
NM_133437.4:c.80883T>A (TTN) NP_597681.4:p.Ser26961Arg
NR_038271.1:n.446+3988A>T (TTN-AS1)
NR_038272.1:n.219+3988A>T (TTN-AS1)
XM_011511729.1:c.106599T>A (TTN) XP_011510031.1:p.Ser35533Arg
XM_011511730.1:c.80493T>A (TTN) XP_011510032.1:p.Ser26831Arg
XM_011511731.1:c.80352T>A (TTN) XP_011510033.1:p.Ser26784Arg
XM_017004819.1:c.106395T>A (TTN) XP_016860308.1:p.Ser35465Arg
XM_017004820.1:c.101793T>A (TTN) XP_016860309.1:p.Ser33931Arg
XM_017004821.1:c.101790T>A (TTN) XP_016860310.1:p.Ser33930Arg
XM_017004822.1:c.98832T>A (TTN) XP_016860311.1:p.Ser32944Arg
XM_017004823.1:c.80448T>A (TTN) XP_016860312.1:p.Ser26816Arg
XM_024453094.1:c.101943T>A (TTN) XP_024308862.1:p.Ser33981Arg
XM_024453095.1:c.101940T>A (TTN) XP_024308863.1:p.Ser33980Arg
XM_024453096.1:c.101373T>A (TTN) XP_024308864.1:p.Ser33791Arg
XM_024453097.1:c.98715T>A (TTN) XP_024308865.1:p.Ser32905Arg
XM_024453098.1:c.98634T>A (TTN) XP_024308866.1:p.Ser32878Arg
XM_024453099.1:c.80397T>A (TTN) XP_024308867.1:p.Ser26799Arg
XM_024453100.1:c.70251T>A (TTN) XP_024308868.1:p.Ser23417Arg