Canonical Allele Identifier: CA349470881

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546696C>A , CM000664.2:g.178546696C>A GRCh38
NC_000002.11:g.179411423C>A , CM000664.1:g.179411423C>A GRCh37
NC_000002.10:g.179119669C>A NCBI36
NG_011618.3:g.289107G>T , LRG_391:g.289107G>T
NG_051363.1:g.28870C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.87028G>T (TTN) ENSP00000343764.6:p.Asp29010Tyr
ENST00000342175.11:c.68113G>T (TTN) ENSP00000340554.6:p.Asp22705Tyr
ENST00000359218.10:c.67912G>T (TTN) ENSP00000352154.5:p.Asp22638Tyr
ENST00000342175.10:c.68113G>T (TTN) ENSP00000340554.6:p.Asp22705Tyr
ENST00000342992.10:c.87028G>T (TTN) ENSP00000343764.6:p.Asp29010Tyr
ENST00000359218.9:c.67912G>T (TTN) ENSP00000352154.5:p.Asp22638Tyr
ENST00000460472.6:c.67537G>T (TTN) ENSP00000434586.1:p.Asp22513Tyr
ENST00000589042.5:c.94732G>T (TTN) MANE Select ENSP00000467141.1:p.Asp31578Tyr
ENST00000591111.5:c.89809G>T (TTN) ENSP00000465570.1:p.Asp29937Tyr
ENST00000615779.4:c.89809G>T (TTN) ENSP00000483597.1:p.Asp29937Tyr
NM_001256850.1:c.89809G>T (TTN) NP_001243779.1:p.Asp29937Tyr
NM_001267550.2:c.94732G>T (TTN) MANE Select NP_001254479.2:p.Asp31578Tyr
NM_003319.4:c.67537G>T (TTN) NP_003310.4:p.Asp22513Tyr
NM_133378.4:c.87028G>T (TTN) NP_596869.4:p.Asp29010Tyr
NM_133432.3:c.67912G>T (TTN) NP_597676.3:p.Asp22638Tyr
NM_133437.4:c.68113G>T (TTN) NP_597681.4:p.Asp22705Tyr
NR_038271.1:n.446+23060C>A (TTN-AS1)
NR_038272.1:n.2043+4335C>A (TTN-AS1)
XM_011511729.1:c.93829G>T (TTN) XP_011510031.1:p.Asp31277Tyr
XM_011511730.1:c.67723G>T (TTN) XP_011510032.1:p.Asp22575Tyr
XM_011511731.1:c.67582G>T (TTN) XP_011510033.1:p.Asp22528Tyr
XM_017004819.1:c.93625G>T (TTN) XP_016860308.1:p.Asp31209Tyr
XM_017004820.1:c.89023G>T (TTN) XP_016860309.1:p.Asp29675Tyr
XM_017004821.1:c.89020G>T (TTN) XP_016860310.1:p.Asp29674Tyr
XM_017004822.1:c.86062G>T (TTN) XP_016860311.1:p.Asp28688Tyr
XM_017004823.1:c.67678G>T (TTN) XP_016860312.1:p.Asp22560Tyr
XM_024453094.1:c.89173G>T (TTN) XP_024308862.1:p.Asp29725Tyr
XM_024453095.1:c.89170G>T (TTN) XP_024308863.1:p.Asp29724Tyr
XM_024453096.1:c.88603G>T (TTN) XP_024308864.1:p.Asp29535Tyr
XM_024453097.1:c.85945G>T (TTN) XP_024308865.1:p.Asp28649Tyr
XM_024453098.1:c.85864G>T (TTN) XP_024308866.1:p.Asp28622Tyr
XM_024453099.1:c.67627G>T (TTN) XP_024308867.1:p.Asp22543Tyr
XM_024453100.1:c.57481G>T (TTN) XP_024308868.1:p.Asp19161Tyr