Canonical Allele Identifier: CA349406304

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530327T>A , CM000664.2:g.178530327T>A GRCh38
NC_000002.11:g.179395054T>A , CM000664.1:g.179395054T>A GRCh37
NC_000002.10:g.179103300T>A NCBI36
NG_011618.3:g.305476A>T , LRG_391:g.305476A>T
NG_051363.1:g.12501T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98584A>T (TTN) ENSP00000343764.6:p.Thr32862Ser
ENST00000342175.11:c.79669A>T (TTN) ENSP00000340554.6:p.Thr26557Ser
ENST00000359218.10:c.79468A>T (TTN) ENSP00000352154.5:p.Thr26490Ser
ENST00000342175.10:c.79669A>T (TTN) ENSP00000340554.6:p.Thr26557Ser
ENST00000342992.10:c.98584A>T (TTN) ENSP00000343764.6:p.Thr32862Ser
ENST00000359218.9:c.79468A>T (TTN) ENSP00000352154.5:p.Thr26490Ser
ENST00000460472.6:c.79093A>T (TTN) ENSP00000434586.1:p.Thr26365Ser
ENST00000589042.5:c.106288A>T (TTN) MANE Select ENSP00000467141.1:p.Thr35430Ser
ENST00000591111.5:c.101365A>T (TTN) ENSP00000465570.1:p.Thr33789Ser
ENST00000615779.4:c.101365A>T (TTN) ENSP00000483597.1:p.Thr33789Ser
NM_001256850.1:c.101365A>T (TTN) NP_001243779.1:p.Thr33789Ser
NM_001267550.2:c.106288A>T (TTN) MANE Select NP_001254479.2:p.Thr35430Ser
NM_003319.4:c.79093A>T (TTN) NP_003310.4:p.Thr26365Ser
NM_133378.4:c.98584A>T (TTN) NP_596869.4:p.Thr32862Ser
NM_133432.3:c.79468A>T (TTN) NP_597676.3:p.Thr26490Ser
NM_133437.4:c.79669A>T (TTN) NP_597681.4:p.Thr26557Ser
NR_038271.1:n.446+6691T>A (TTN-AS1)
NR_038272.1:n.220-5405T>A (TTN-AS1)
XM_011511729.1:c.105385A>T (TTN) XP_011510031.1:p.Thr35129Ser
XM_011511730.1:c.79279A>T (TTN) XP_011510032.1:p.Thr26427Ser
XM_011511731.1:c.79138A>T (TTN) XP_011510033.1:p.Thr26380Ser
XM_017004819.1:c.105181A>T (TTN) XP_016860308.1:p.Thr35061Ser
XM_017004820.1:c.100579A>T (TTN) XP_016860309.1:p.Thr33527Ser
XM_017004821.1:c.100576A>T (TTN) XP_016860310.1:p.Thr33526Ser
XM_017004822.1:c.97618A>T (TTN) XP_016860311.1:p.Thr32540Ser
XM_017004823.1:c.79234A>T (TTN) XP_016860312.1:p.Thr26412Ser
XM_024453094.1:c.100729A>T (TTN) XP_024308862.1:p.Thr33577Ser
XM_024453095.1:c.100726A>T (TTN) XP_024308863.1:p.Thr33576Ser
XM_024453096.1:c.100159A>T (TTN) XP_024308864.1:p.Thr33387Ser
XM_024453097.1:c.97501A>T (TTN) XP_024308865.1:p.Thr32501Ser
XM_024453098.1:c.97420A>T (TTN) XP_024308866.1:p.Thr32474Ser
XM_024453099.1:c.79183A>T (TTN) XP_024308867.1:p.Thr26395Ser
XM_024453100.1:c.69037A>T (TTN) XP_024308868.1:p.Thr23013Ser