Canonical Allele Identifier: CA349510785

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552467T>A , CM000664.2:g.178552467T>A GRCh38
NC_000002.11:g.179417194T>A , CM000664.1:g.179417194T>A GRCh37
NC_000002.10:g.179125440T>A NCBI36
NG_011618.3:g.283336A>T , LRG_391:g.283336A>T
NG_051363.1:g.34641T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.82729A>T (TTN) ENSP00000343764.6:p.Ile27577Phe
ENST00000342175.11:c.63814A>T (TTN) ENSP00000340554.6:p.Ile21272Phe
ENST00000359218.10:c.63613A>T (TTN) ENSP00000352154.5:p.Ile21205Phe
ENST00000342175.10:c.63814A>T (TTN) ENSP00000340554.6:p.Ile21272Phe
ENST00000342992.10:c.82729A>T (TTN) ENSP00000343764.6:p.Ile27577Phe
ENST00000359218.9:c.63613A>T (TTN) ENSP00000352154.5:p.Ile21205Phe
ENST00000460472.6:c.63238A>T (TTN) ENSP00000434586.1:p.Ile21080Phe
ENST00000589042.5:c.90433A>T (TTN) MANE Select ENSP00000467141.1:p.Ile30145Phe
ENST00000591111.5:c.85510A>T (TTN) ENSP00000465570.1:p.Ile28504Phe
ENST00000615779.4:c.85510A>T (TTN) ENSP00000483597.1:p.Ile28504Phe
NM_001256850.1:c.85510A>T (TTN) NP_001243779.1:p.Ile28504Phe
NM_001267550.2:c.90433A>T (TTN) MANE Select NP_001254479.2:p.Ile30145Phe
NM_003319.4:c.63238A>T (TTN) NP_003310.4:p.Ile21080Phe
NM_133378.4:c.82729A>T (TTN) NP_596869.4:p.Ile27577Phe
NM_133432.3:c.63613A>T (TTN) NP_597676.3:p.Ile21205Phe
NM_133437.4:c.63814A>T (TTN) NP_597681.4:p.Ile21272Phe
NR_038271.1:n.447-18833T>A (TTN-AS1)
NR_038272.1:n.2043+10106T>A (TTN-AS1)
XM_011511729.1:c.89530A>T (TTN) XP_011510031.1:p.Ile29844Phe
XM_011511730.1:c.63424A>T (TTN) XP_011510032.1:p.Ile21142Phe
XM_011511731.1:c.63283A>T (TTN) XP_011510033.1:p.Ile21095Phe
XM_017004819.1:c.89326A>T (TTN) XP_016860308.1:p.Ile29776Phe
XM_017004820.1:c.84724A>T (TTN) XP_016860309.1:p.Ile28242Phe
XM_017004821.1:c.84721A>T (TTN) XP_016860310.1:p.Ile28241Phe
XM_017004822.1:c.81763A>T (TTN) XP_016860311.1:p.Ile27255Phe
XM_017004823.1:c.63379A>T (TTN) XP_016860312.1:p.Ile21127Phe
XM_024453094.1:c.84874A>T (TTN) XP_024308862.1:p.Ile28292Phe
XM_024453095.1:c.84871A>T (TTN) XP_024308863.1:p.Ile28291Phe
XM_024453096.1:c.84304A>T (TTN) XP_024308864.1:p.Ile28102Phe
XM_024453097.1:c.81646A>T (TTN) XP_024308865.1:p.Ile27216Phe
XM_024453098.1:c.81565A>T (TTN) XP_024308866.1:p.Ile27189Phe
XM_024453099.1:c.63328A>T (TTN) XP_024308867.1:p.Ile21110Phe
XM_024453100.1:c.53182A>T (TTN) XP_024308868.1:p.Ile17728Phe