Canonical Allele Identifier: CA349417044

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178533957A>T , CM000664.2:g.178533957A>T GRCh38
NC_000002.11:g.179398684A>T , CM000664.1:g.179398684A>T GRCh37
NC_000002.10:g.179106930A>T NCBI36
NG_011618.3:g.301846T>A , LRG_391:g.301846T>A
NG_051363.1:g.16131A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.94954T>A (TTN) ENSP00000343764.6:p.Ser31652Thr
ENST00000342175.11:c.76039T>A (TTN) ENSP00000340554.6:p.Ser25347Thr
ENST00000359218.10:c.75838T>A (TTN) ENSP00000352154.5:p.Ser25280Thr
ENST00000342175.10:c.76039T>A (TTN) ENSP00000340554.6:p.Ser25347Thr
ENST00000342992.10:c.94954T>A (TTN) ENSP00000343764.6:p.Ser31652Thr
ENST00000359218.9:c.75838T>A (TTN) ENSP00000352154.5:p.Ser25280Thr
ENST00000460472.6:c.75463T>A (TTN) ENSP00000434586.1:p.Ser25155Thr
ENST00000589042.5:c.102658T>A (TTN) MANE Select ENSP00000467141.1:p.Ser34220Thr
ENST00000591111.5:c.97735T>A (TTN) ENSP00000465570.1:p.Ser32579Thr
ENST00000615779.4:c.97735T>A (TTN) ENSP00000483597.1:p.Ser32579Thr
NM_001256850.1:c.97735T>A (TTN) NP_001243779.1:p.Ser32579Thr
NM_001267550.2:c.102658T>A (TTN) MANE Select NP_001254479.2:p.Ser34220Thr
NM_003319.4:c.75463T>A (TTN) NP_003310.4:p.Ser25155Thr
NM_133378.4:c.94954T>A (TTN) NP_596869.4:p.Ser31652Thr
NM_133432.3:c.75838T>A (TTN) NP_597676.3:p.Ser25280Thr
NM_133437.4:c.76039T>A (TTN) NP_597681.4:p.Ser25347Thr
NR_038271.1:n.446+10321A>T (TTN-AS1)
NR_038272.1:n.220-1775A>T (TTN-AS1)
XM_011511729.1:c.101755T>A (TTN) XP_011510031.1:p.Ser33919Thr
XM_011511730.1:c.75649T>A (TTN) XP_011510032.1:p.Ser25217Thr
XM_011511731.1:c.75508T>A (TTN) XP_011510033.1:p.Ser25170Thr
XM_017004819.1:c.101551T>A (TTN) XP_016860308.1:p.Ser33851Thr
XM_017004820.1:c.96949T>A (TTN) XP_016860309.1:p.Ser32317Thr
XM_017004821.1:c.96946T>A (TTN) XP_016860310.1:p.Ser32316Thr
XM_017004822.1:c.93988T>A (TTN) XP_016860311.1:p.Ser31330Thr
XM_017004823.1:c.75604T>A (TTN) XP_016860312.1:p.Ser25202Thr
XM_024453094.1:c.97099T>A (TTN) XP_024308862.1:p.Ser32367Thr
XM_024453095.1:c.97096T>A (TTN) XP_024308863.1:p.Ser32366Thr
XM_024453096.1:c.96529T>A (TTN) XP_024308864.1:p.Ser32177Thr
XM_024453097.1:c.93871T>A (TTN) XP_024308865.1:p.Ser31291Thr
XM_024453098.1:c.93790T>A (TTN) XP_024308866.1:p.Ser31264Thr
XM_024453099.1:c.75553T>A (TTN) XP_024308867.1:p.Ser25185Thr
XM_024453100.1:c.65407T>A (TTN) XP_024308868.1:p.Ser21803Thr