Canonical Allele Identifier: CA349406562

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530396T>A , CM000664.2:g.178530396T>A GRCh38
NC_000002.11:g.179395123T>A , CM000664.1:g.179395123T>A GRCh37
NC_000002.10:g.179103369T>A NCBI36
NG_011618.3:g.305407A>T , LRG_391:g.305407A>T
NG_051363.1:g.12570T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98515A>T (TTN) ENSP00000343764.6:p.Lys32839Ter
ENST00000342175.11:c.79600A>T (TTN) ENSP00000340554.6:p.Lys26534Ter
ENST00000359218.10:c.79399A>T (TTN) ENSP00000352154.5:p.Lys26467Ter
ENST00000342175.10:c.79600A>T (TTN) ENSP00000340554.6:p.Lys26534Ter
ENST00000342992.10:c.98515A>T (TTN) ENSP00000343764.6:p.Lys32839Ter
ENST00000359218.9:c.79399A>T (TTN) ENSP00000352154.5:p.Lys26467Ter
ENST00000460472.6:c.79024A>T (TTN) ENSP00000434586.1:p.Lys26342Ter
ENST00000589042.5:c.106219A>T (TTN) MANE Select ENSP00000467141.1:p.Lys35407Ter
ENST00000591111.5:c.101296A>T (TTN) ENSP00000465570.1:p.Lys33766Ter
ENST00000615779.4:c.101296A>T (TTN) ENSP00000483597.1:p.Lys33766Ter
NM_001256850.1:c.101296A>T (TTN) NP_001243779.1:p.Lys33766Ter
NM_001267550.2:c.106219A>T (TTN) MANE Select NP_001254479.2:p.Lys35407Ter
NM_003319.4:c.79024A>T (TTN) NP_003310.4:p.Lys26342Ter
NM_133378.4:c.98515A>T (TTN) NP_596869.4:p.Lys32839Ter
NM_133432.3:c.79399A>T (TTN) NP_597676.3:p.Lys26467Ter
NM_133437.4:c.79600A>T (TTN) NP_597681.4:p.Lys26534Ter
NR_038271.1:n.446+6760T>A (TTN-AS1)
NR_038272.1:n.220-5336T>A (TTN-AS1)
XM_011511729.1:c.105316A>T (TTN) XP_011510031.1:p.Lys35106Ter
XM_011511730.1:c.79210A>T (TTN) XP_011510032.1:p.Lys26404Ter
XM_011511731.1:c.79069A>T (TTN) XP_011510033.1:p.Lys26357Ter
XM_017004819.1:c.105112A>T (TTN) XP_016860308.1:p.Lys35038Ter
XM_017004820.1:c.100510A>T (TTN) XP_016860309.1:p.Lys33504Ter
XM_017004821.1:c.100507A>T (TTN) XP_016860310.1:p.Lys33503Ter
XM_017004822.1:c.97549A>T (TTN) XP_016860311.1:p.Lys32517Ter
XM_017004823.1:c.79165A>T (TTN) XP_016860312.1:p.Lys26389Ter
XM_024453094.1:c.100660A>T (TTN) XP_024308862.1:p.Lys33554Ter
XM_024453095.1:c.100657A>T (TTN) XP_024308863.1:p.Lys33553Ter
XM_024453096.1:c.100090A>T (TTN) XP_024308864.1:p.Lys33364Ter
XM_024453097.1:c.97432A>T (TTN) XP_024308865.1:p.Lys32478Ter
XM_024453098.1:c.97351A>T (TTN) XP_024308866.1:p.Lys32451Ter
XM_024453099.1:c.79114A>T (TTN) XP_024308867.1:p.Lys26372Ter
XM_024453100.1:c.68968A>T (TTN) XP_024308868.1:p.Lys22990Ter