Canonical Allele Identifier: CA349407026

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530510T>G , CM000664.2:g.178530510T>G GRCh38
NC_000002.11:g.179395237T>G , CM000664.1:g.179395237T>G GRCh37
NC_000002.10:g.179103483T>G NCBI36
NG_011618.3:g.305293A>C , LRG_391:g.305293A>C
NG_051363.1:g.12684T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98401A>C (TTN) ENSP00000343764.6:p.Lys32801Gln
ENST00000342175.11:c.79486A>C (TTN) ENSP00000340554.6:p.Lys26496Gln
ENST00000359218.10:c.79285A>C (TTN) ENSP00000352154.5:p.Lys26429Gln
ENST00000342175.10:c.79486A>C (TTN) ENSP00000340554.6:p.Lys26496Gln
ENST00000342992.10:c.98401A>C (TTN) ENSP00000343764.6:p.Lys32801Gln
ENST00000359218.9:c.79285A>C (TTN) ENSP00000352154.5:p.Lys26429Gln
ENST00000460472.6:c.78910A>C (TTN) ENSP00000434586.1:p.Lys26304Gln
ENST00000589042.5:c.106105A>C (TTN) MANE Select ENSP00000467141.1:p.Lys35369Gln
ENST00000591111.5:c.101182A>C (TTN) ENSP00000465570.1:p.Lys33728Gln
ENST00000615779.4:c.101182A>C (TTN) ENSP00000483597.1:p.Lys33728Gln
NM_001256850.1:c.101182A>C (TTN) NP_001243779.1:p.Lys33728Gln
NM_001267550.2:c.106105A>C (TTN) MANE Select NP_001254479.2:p.Lys35369Gln
NM_003319.4:c.78910A>C (TTN) NP_003310.4:p.Lys26304Gln
NM_133378.4:c.98401A>C (TTN) NP_596869.4:p.Lys32801Gln
NM_133432.3:c.79285A>C (TTN) NP_597676.3:p.Lys26429Gln
NM_133437.4:c.79486A>C (TTN) NP_597681.4:p.Lys26496Gln
NR_038271.1:n.446+6874T>G (TTN-AS1)
NR_038272.1:n.220-5222T>G (TTN-AS1)
XM_011511729.1:c.105202A>C (TTN) XP_011510031.1:p.Lys35068Gln
XM_011511730.1:c.79096A>C (TTN) XP_011510032.1:p.Lys26366Gln
XM_011511731.1:c.78955A>C (TTN) XP_011510033.1:p.Lys26319Gln
XM_017004819.1:c.104998A>C (TTN) XP_016860308.1:p.Lys35000Gln
XM_017004820.1:c.100396A>C (TTN) XP_016860309.1:p.Lys33466Gln
XM_017004821.1:c.100393A>C (TTN) XP_016860310.1:p.Lys33465Gln
XM_017004822.1:c.97435A>C (TTN) XP_016860311.1:p.Lys32479Gln
XM_017004823.1:c.79051A>C (TTN) XP_016860312.1:p.Lys26351Gln
XM_024453094.1:c.100546A>C (TTN) XP_024308862.1:p.Lys33516Gln
XM_024453095.1:c.100543A>C (TTN) XP_024308863.1:p.Lys33515Gln
XM_024453096.1:c.99976A>C (TTN) XP_024308864.1:p.Lys33326Gln
XM_024453097.1:c.97318A>C (TTN) XP_024308865.1:p.Lys32440Gln
XM_024453098.1:c.97237A>C (TTN) XP_024308866.1:p.Lys32413Gln
XM_024453099.1:c.79000A>C (TTN) XP_024308867.1:p.Lys26334Gln
XM_024453100.1:c.68854A>C (TTN) XP_024308868.1:p.Lys22952Gln