Canonical Allele Identifier: CA349446243

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543325T>G , CM000664.2:g.178543325T>G GRCh38
NC_000002.11:g.179408052T>G , CM000664.1:g.179408052T>G GRCh37
NC_000002.10:g.179116298T>G NCBI36
NG_011618.3:g.292478A>C , LRG_391:g.292478A>C
NG_051363.1:g.25499T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88944A>C (TTN) ENSP00000343764.6:p.Lys29648Asn
ENST00000342175.11:c.70029A>C (TTN) ENSP00000340554.6:p.Lys23343Asn
ENST00000359218.10:c.69828A>C (TTN) ENSP00000352154.5:p.Lys23276Asn
ENST00000342175.10:c.70029A>C (TTN) ENSP00000340554.6:p.Lys23343Asn
ENST00000342992.10:c.88944A>C (TTN) ENSP00000343764.6:p.Lys29648Asn
ENST00000359218.9:c.69828A>C (TTN) ENSP00000352154.5:p.Lys23276Asn
ENST00000460472.6:c.69453A>C (TTN) ENSP00000434586.1:p.Lys23151Asn
ENST00000589042.5:c.96648A>C (TTN) MANE Select ENSP00000467141.1:p.Lys32216Asn
ENST00000591111.5:c.91725A>C (TTN) ENSP00000465570.1:p.Lys30575Asn
ENST00000615779.4:c.91725A>C (TTN) ENSP00000483597.1:p.Lys30575Asn
NM_001256850.1:c.91725A>C (TTN) NP_001243779.1:p.Lys30575Asn
NM_001267550.2:c.96648A>C (TTN) MANE Select NP_001254479.2:p.Lys32216Asn
NM_003319.4:c.69453A>C (TTN) NP_003310.4:p.Lys23151Asn
NM_133378.4:c.88944A>C (TTN) NP_596869.4:p.Lys29648Asn
NM_133432.3:c.69828A>C (TTN) NP_597676.3:p.Lys23276Asn
NM_133437.4:c.70029A>C (TTN) NP_597681.4:p.Lys23343Asn
NR_038271.1:n.446+19689T>G (TTN-AS1)
NR_038272.1:n.2043+964T>G (TTN-AS1)
XM_011511729.1:c.95745A>C (TTN) XP_011510031.1:p.Lys31915Asn
XM_011511730.1:c.69639A>C (TTN) XP_011510032.1:p.Lys23213Asn
XM_011511731.1:c.69498A>C (TTN) XP_011510033.1:p.Lys23166Asn
XM_017004819.1:c.95541A>C (TTN) XP_016860308.1:p.Lys31847Asn
XM_017004820.1:c.90939A>C (TTN) XP_016860309.1:p.Lys30313Asn
XM_017004821.1:c.90936A>C (TTN) XP_016860310.1:p.Lys30312Asn
XM_017004822.1:c.87978A>C (TTN) XP_016860311.1:p.Lys29326Asn
XM_017004823.1:c.69594A>C (TTN) XP_016860312.1:p.Lys23198Asn
XM_024453094.1:c.91089A>C (TTN) XP_024308862.1:p.Lys30363Asn
XM_024453095.1:c.91086A>C (TTN) XP_024308863.1:p.Lys30362Asn
XM_024453096.1:c.90519A>C (TTN) XP_024308864.1:p.Lys30173Asn
XM_024453097.1:c.87861A>C (TTN) XP_024308865.1:p.Lys29287Asn
XM_024453098.1:c.87780A>C (TTN) XP_024308866.1:p.Lys29260Asn
XM_024453099.1:c.69543A>C (TTN) XP_024308867.1:p.Lys23181Asn
XM_024453100.1:c.59397A>C (TTN) XP_024308868.1:p.Lys19799Asn