Canonical Allele Identifier: CA349406669

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530421T>A , CM000664.2:g.178530421T>A GRCh38
NC_000002.11:g.179395148T>A , CM000664.1:g.179395148T>A GRCh37
NC_000002.10:g.179103394T>A NCBI36
NG_011618.3:g.305382A>T , LRG_391:g.305382A>T
NG_051363.1:g.12595T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98490A>T (TTN) ENSP00000343764.6:p.Lys32830Asn
ENST00000342175.11:c.79575A>T (TTN) ENSP00000340554.6:p.Lys26525Asn
ENST00000359218.10:c.79374A>T (TTN) ENSP00000352154.5:p.Lys26458Asn
ENST00000342175.10:c.79575A>T (TTN) ENSP00000340554.6:p.Lys26525Asn
ENST00000342992.10:c.98490A>T (TTN) ENSP00000343764.6:p.Lys32830Asn
ENST00000359218.9:c.79374A>T (TTN) ENSP00000352154.5:p.Lys26458Asn
ENST00000460472.6:c.78999A>T (TTN) ENSP00000434586.1:p.Lys26333Asn
ENST00000589042.5:c.106194A>T (TTN) MANE Select ENSP00000467141.1:p.Lys35398Asn
ENST00000591111.5:c.101271A>T (TTN) ENSP00000465570.1:p.Lys33757Asn
ENST00000615779.4:c.101271A>T (TTN) ENSP00000483597.1:p.Lys33757Asn
NM_001256850.1:c.101271A>T (TTN) NP_001243779.1:p.Lys33757Asn
NM_001267550.2:c.106194A>T (TTN) MANE Select NP_001254479.2:p.Lys35398Asn
NM_003319.4:c.78999A>T (TTN) NP_003310.4:p.Lys26333Asn
NM_133378.4:c.98490A>T (TTN) NP_596869.4:p.Lys32830Asn
NM_133432.3:c.79374A>T (TTN) NP_597676.3:p.Lys26458Asn
NM_133437.4:c.79575A>T (TTN) NP_597681.4:p.Lys26525Asn
NR_038271.1:n.446+6785T>A (TTN-AS1)
NR_038272.1:n.220-5311T>A (TTN-AS1)
XM_011511729.1:c.105291A>T (TTN) XP_011510031.1:p.Lys35097Asn
XM_011511730.1:c.79185A>T (TTN) XP_011510032.1:p.Lys26395Asn
XM_011511731.1:c.79044A>T (TTN) XP_011510033.1:p.Lys26348Asn
XM_017004819.1:c.105087A>T (TTN) XP_016860308.1:p.Lys35029Asn
XM_017004820.1:c.100485A>T (TTN) XP_016860309.1:p.Lys33495Asn
XM_017004821.1:c.100482A>T (TTN) XP_016860310.1:p.Lys33494Asn
XM_017004822.1:c.97524A>T (TTN) XP_016860311.1:p.Lys32508Asn
XM_017004823.1:c.79140A>T (TTN) XP_016860312.1:p.Lys26380Asn
XM_024453094.1:c.100635A>T (TTN) XP_024308862.1:p.Lys33545Asn
XM_024453095.1:c.100632A>T (TTN) XP_024308863.1:p.Lys33544Asn
XM_024453096.1:c.100065A>T (TTN) XP_024308864.1:p.Lys33355Asn
XM_024453097.1:c.97407A>T (TTN) XP_024308865.1:p.Lys32469Asn
XM_024453098.1:c.97326A>T (TTN) XP_024308866.1:p.Lys32442Asn
XM_024453099.1:c.79089A>T (TTN) XP_024308867.1:p.Lys26363Asn
XM_024453100.1:c.68943A>T (TTN) XP_024308868.1:p.Lys22981Asn