Canonical Allele Identifier: CA349647778

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178573867T>G , CM000664.2:g.178573867T>G GRCh38
NC_000002.11:g.179438594T>G , CM000664.1:g.179438594T>G GRCh37
NC_000002.10:g.179146840T>G NCBI36
NG_011618.3:g.261936A>C , LRG_391:g.261936A>C
NG_051363.1:g.56041T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.64561A>C (TTN) ENSP00000343764.6:p.Asn21521His
ENST00000342175.11:c.45646A>C (TTN) ENSP00000340554.6:p.Asn15216His
ENST00000359218.10:c.45445A>C (TTN) ENSP00000352154.5:p.Asn15149His
ENST00000342175.10:c.45646A>C (TTN) ENSP00000340554.6:p.Asn15216His
ENST00000342992.10:c.64561A>C (TTN) ENSP00000343764.6:p.Asn21521His
ENST00000359218.9:c.45445A>C (TTN) ENSP00000352154.5:p.Asn15149His
ENST00000460472.6:c.45070A>C (TTN) ENSP00000434586.1:p.Asn15024His
ENST00000589042.5:c.72265A>C (TTN) MANE Select ENSP00000467141.1:p.Asn24089His
ENST00000591111.5:c.67342A>C (TTN) ENSP00000465570.1:p.Asn22448His
ENST00000615779.4:c.67342A>C (TTN) ENSP00000483597.1:p.Asn22448His
NM_001256850.1:c.67342A>C (TTN) NP_001243779.1:p.Asn22448His
NM_001267550.2:c.72265A>C (TTN) MANE Select NP_001254479.2:p.Asn24089His
NM_003319.4:c.45070A>C (TTN) NP_003310.4:p.Asn15024His
NM_133378.4:c.64561A>C (TTN) NP_596869.4:p.Asn21521His
NM_133432.3:c.45445A>C (TTN) NP_597676.3:p.Asn15149His
NM_133437.4:c.45646A>C (TTN) NP_597681.4:p.Asn15216His
NR_038271.1:n.596+2418T>G (TTN-AS1)
NR_038272.1:n.2044-8705T>G (TTN-AS1)
XM_011511729.1:c.71362A>C (TTN) XP_011510031.1:p.Asn23788His
XM_011511730.1:c.45256A>C (TTN) XP_011510032.1:p.Asn15086His
XM_011511731.1:c.45115A>C (TTN) XP_011510033.1:p.Asn15039His
XM_017004819.1:c.71158A>C (TTN) XP_016860308.1:p.Asn23720His
XM_017004820.1:c.66556A>C (TTN) XP_016860309.1:p.Asn22186His
XM_017004821.1:c.66553A>C (TTN) XP_016860310.1:p.Asn22185His
XM_017004822.1:c.63595A>C (TTN) XP_016860311.1:p.Asn21199His
XM_017004823.1:c.45211A>C (TTN) XP_016860312.1:p.Asn15071His
XM_024453094.1:c.66706A>C (TTN) XP_024308862.1:p.Asn22236His
XM_024453095.1:c.66703A>C (TTN) XP_024308863.1:p.Asn22235His
XM_024453096.1:c.66136A>C (TTN) XP_024308864.1:p.Asn22046His
XM_024453097.1:c.63478A>C (TTN) XP_024308865.1:p.Asn21160His
XM_024453098.1:c.63397A>C (TTN) XP_024308866.1:p.Asn21133His
XM_024453099.1:c.45160A>C (TTN) XP_024308867.1:p.Asn15054His
XM_024453100.1:c.35014A>C (TTN) XP_024308868.1:p.Asn11672His