Canonical Allele Identifier: CA349411533

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532114G>A , CM000664.2:g.178532114G>A GRCh38
NC_000002.11:g.179396841G>A , CM000664.1:g.179396841G>A GRCh37
NC_000002.10:g.179105087G>A NCBI36
NG_011618.3:g.303689C>T , LRG_391:g.303689C>T
NG_051363.1:g.14288G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.96797C>T (TTN) ENSP00000343764.6:p.Ser32266Phe
ENST00000342175.11:c.77882C>T (TTN) ENSP00000340554.6:p.Ser25961Phe
ENST00000359218.10:c.77681C>T (TTN) ENSP00000352154.5:p.Ser25894Phe
ENST00000342175.10:c.77882C>T (TTN) ENSP00000340554.6:p.Ser25961Phe
ENST00000342992.10:c.96797C>T (TTN) ENSP00000343764.6:p.Ser32266Phe
ENST00000359218.9:c.77681C>T (TTN) ENSP00000352154.5:p.Ser25894Phe
ENST00000460472.6:c.77306C>T (TTN) ENSP00000434586.1:p.Ser25769Phe
ENST00000589042.5:c.104501C>T (TTN) MANE Select ENSP00000467141.1:p.Ser34834Phe
ENST00000591111.5:c.99578C>T (TTN) ENSP00000465570.1:p.Ser33193Phe
ENST00000615779.4:c.99578C>T (TTN) ENSP00000483597.1:p.Ser33193Phe
NM_001256850.1:c.99578C>T (TTN) NP_001243779.1:p.Ser33193Phe
NM_001267550.2:c.104501C>T (TTN) MANE Select NP_001254479.2:p.Ser34834Phe
NM_003319.4:c.77306C>T (TTN) NP_003310.4:p.Ser25769Phe
NM_133378.4:c.96797C>T (TTN) NP_596869.4:p.Ser32266Phe
NM_133432.3:c.77681C>T (TTN) NP_597676.3:p.Ser25894Phe
NM_133437.4:c.77882C>T (TTN) NP_597681.4:p.Ser25961Phe
NR_038271.1:n.446+8478G>A (TTN-AS1)
NR_038272.1:n.220-3618G>A (TTN-AS1)
XM_011511729.1:c.103598C>T (TTN) XP_011510031.1:p.Ser34533Phe
XM_011511730.1:c.77492C>T (TTN) XP_011510032.1:p.Ser25831Phe
XM_011511731.1:c.77351C>T (TTN) XP_011510033.1:p.Ser25784Phe
XM_017004819.1:c.103394C>T (TTN) XP_016860308.1:p.Ser34465Phe
XM_017004820.1:c.98792C>T (TTN) XP_016860309.1:p.Ser32931Phe
XM_017004821.1:c.98789C>T (TTN) XP_016860310.1:p.Ser32930Phe
XM_017004822.1:c.95831C>T (TTN) XP_016860311.1:p.Ser31944Phe
XM_017004823.1:c.77447C>T (TTN) XP_016860312.1:p.Ser25816Phe
XM_024453094.1:c.98942C>T (TTN) XP_024308862.1:p.Ser32981Phe
XM_024453095.1:c.98939C>T (TTN) XP_024308863.1:p.Ser32980Phe
XM_024453096.1:c.98372C>T (TTN) XP_024308864.1:p.Ser32791Phe
XM_024453097.1:c.95714C>T (TTN) XP_024308865.1:p.Ser31905Phe
XM_024453098.1:c.95633C>T (TTN) XP_024308866.1:p.Ser31878Phe
XM_024453099.1:c.77396C>T (TTN) XP_024308867.1:p.Ser25799Phe
XM_024453100.1:c.67250C>T (TTN) XP_024308868.1:p.Ser22417Phe