Canonical Allele Identifier: CA349407333

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530650T>A , CM000664.2:g.178530650T>A GRCh38
NC_000002.11:g.179395377T>A , CM000664.1:g.179395377T>A GRCh37
NC_000002.10:g.179103623T>A NCBI36
NG_011618.3:g.305153A>T , LRG_391:g.305153A>T
NG_051363.1:g.12824T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98261A>T (TTN) ENSP00000343764.6:p.Asp32754Val
ENST00000342175.11:c.79346A>T (TTN) ENSP00000340554.6:p.Asp26449Val
ENST00000359218.10:c.79145A>T (TTN) ENSP00000352154.5:p.Asp26382Val
ENST00000342175.10:c.79346A>T (TTN) ENSP00000340554.6:p.Asp26449Val
ENST00000342992.10:c.98261A>T (TTN) ENSP00000343764.6:p.Asp32754Val
ENST00000359218.9:c.79145A>T (TTN) ENSP00000352154.5:p.Asp26382Val
ENST00000460472.6:c.78770A>T (TTN) ENSP00000434586.1:p.Asp26257Val
ENST00000589042.5:c.105965A>T (TTN) MANE Select ENSP00000467141.1:p.Asp35322Val
ENST00000591111.5:c.101042A>T (TTN) ENSP00000465570.1:p.Asp33681Val
ENST00000615779.4:c.101042A>T (TTN) ENSP00000483597.1:p.Asp33681Val
NM_001256850.1:c.101042A>T (TTN) NP_001243779.1:p.Asp33681Val
NM_001267550.2:c.105965A>T (TTN) MANE Select NP_001254479.2:p.Asp35322Val
NM_003319.4:c.78770A>T (TTN) NP_003310.4:p.Asp26257Val
NM_133378.4:c.98261A>T (TTN) NP_596869.4:p.Asp32754Val
NM_133432.3:c.79145A>T (TTN) NP_597676.3:p.Asp26382Val
NM_133437.4:c.79346A>T (TTN) NP_597681.4:p.Asp26449Val
NR_038271.1:n.446+7014T>A (TTN-AS1)
NR_038272.1:n.220-5082T>A (TTN-AS1)
XM_011511729.1:c.105062A>T (TTN) XP_011510031.1:p.Asp35021Val
XM_011511730.1:c.78956A>T (TTN) XP_011510032.1:p.Asp26319Val
XM_011511731.1:c.78815A>T (TTN) XP_011510033.1:p.Asp26272Val
XM_017004819.1:c.104858A>T (TTN) XP_016860308.1:p.Asp34953Val
XM_017004820.1:c.100256A>T (TTN) XP_016860309.1:p.Asp33419Val
XM_017004821.1:c.100253A>T (TTN) XP_016860310.1:p.Asp33418Val
XM_017004822.1:c.97295A>T (TTN) XP_016860311.1:p.Asp32432Val
XM_017004823.1:c.78911A>T (TTN) XP_016860312.1:p.Asp26304Val
XM_024453094.1:c.100406A>T (TTN) XP_024308862.1:p.Asp33469Val
XM_024453095.1:c.100403A>T (TTN) XP_024308863.1:p.Asp33468Val
XM_024453096.1:c.99836A>T (TTN) XP_024308864.1:p.Asp33279Val
XM_024453097.1:c.97178A>T (TTN) XP_024308865.1:p.Asp32393Val
XM_024453098.1:c.97097A>T (TTN) XP_024308866.1:p.Asp32366Val
XM_024453099.1:c.78860A>T (TTN) XP_024308867.1:p.Asp26287Val
XM_024453100.1:c.68714A>T (TTN) XP_024308868.1:p.Asp22905Val