Canonical Allele Identifier: CA349406950

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530476T>G , CM000664.2:g.178530476T>G GRCh38
NC_000002.11:g.179395203T>G , CM000664.1:g.179395203T>G GRCh37
NC_000002.10:g.179103449T>G NCBI36
NG_011618.3:g.305327A>C , LRG_391:g.305327A>C
NG_051363.1:g.12650T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98435A>C (TTN) ENSP00000343764.6:p.Lys32812Thr
ENST00000342175.11:c.79520A>C (TTN) ENSP00000340554.6:p.Lys26507Thr
ENST00000359218.10:c.79319A>C (TTN) ENSP00000352154.5:p.Lys26440Thr
ENST00000342175.10:c.79520A>C (TTN) ENSP00000340554.6:p.Lys26507Thr
ENST00000342992.10:c.98435A>C (TTN) ENSP00000343764.6:p.Lys32812Thr
ENST00000359218.9:c.79319A>C (TTN) ENSP00000352154.5:p.Lys26440Thr
ENST00000460472.6:c.78944A>C (TTN) ENSP00000434586.1:p.Lys26315Thr
ENST00000589042.5:c.106139A>C (TTN) MANE Select ENSP00000467141.1:p.Lys35380Thr
ENST00000591111.5:c.101216A>C (TTN) ENSP00000465570.1:p.Lys33739Thr
ENST00000615779.4:c.101216A>C (TTN) ENSP00000483597.1:p.Lys33739Thr
NM_001256850.1:c.101216A>C (TTN) NP_001243779.1:p.Lys33739Thr
NM_001267550.2:c.106139A>C (TTN) MANE Select NP_001254479.2:p.Lys35380Thr
NM_003319.4:c.78944A>C (TTN) NP_003310.4:p.Lys26315Thr
NM_133378.4:c.98435A>C (TTN) NP_596869.4:p.Lys32812Thr
NM_133432.3:c.79319A>C (TTN) NP_597676.3:p.Lys26440Thr
NM_133437.4:c.79520A>C (TTN) NP_597681.4:p.Lys26507Thr
NR_038271.1:n.446+6840T>G (TTN-AS1)
NR_038272.1:n.220-5256T>G (TTN-AS1)
XM_011511729.1:c.105236A>C (TTN) XP_011510031.1:p.Lys35079Thr
XM_011511730.1:c.79130A>C (TTN) XP_011510032.1:p.Lys26377Thr
XM_011511731.1:c.78989A>C (TTN) XP_011510033.1:p.Lys26330Thr
XM_017004819.1:c.105032A>C (TTN) XP_016860308.1:p.Lys35011Thr
XM_017004820.1:c.100430A>C (TTN) XP_016860309.1:p.Lys33477Thr
XM_017004821.1:c.100427A>C (TTN) XP_016860310.1:p.Lys33476Thr
XM_017004822.1:c.97469A>C (TTN) XP_016860311.1:p.Lys32490Thr
XM_017004823.1:c.79085A>C (TTN) XP_016860312.1:p.Lys26362Thr
XM_024453094.1:c.100580A>C (TTN) XP_024308862.1:p.Lys33527Thr
XM_024453095.1:c.100577A>C (TTN) XP_024308863.1:p.Lys33526Thr
XM_024453096.1:c.100010A>C (TTN) XP_024308864.1:p.Lys33337Thr
XM_024453097.1:c.97352A>C (TTN) XP_024308865.1:p.Lys32451Thr
XM_024453098.1:c.97271A>C (TTN) XP_024308866.1:p.Lys32424Thr
XM_024453099.1:c.79034A>C (TTN) XP_024308867.1:p.Lys26345Thr
XM_024453100.1:c.68888A>C (TTN) XP_024308868.1:p.Lys22963Thr