Canonical Allele Identifier: CA349428013

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178581507T>A , CM000664.2:g.178581507T>A GRCh38
NC_000002.11:g.179446234T>A , CM000664.1:g.179446234T>A GRCh37
NC_000002.10:g.179154480T>A NCBI36
NG_011618.3:g.254296A>T , LRG_391:g.254296A>T
NG_051363.1:g.63681T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.59057A>T (TTN) ENSP00000343764.6:p.Asp19686Val
ENST00000342175.11:c.40142A>T (TTN) ENSP00000340554.6:p.Asp13381Val
ENST00000359218.10:c.39941A>T (TTN) ENSP00000352154.5:p.Asp13314Val
ENST00000342175.10:c.40142A>T (TTN) ENSP00000340554.6:p.Asp13381Val
ENST00000342992.10:c.59057A>T (TTN) ENSP00000343764.6:p.Asp19686Val
ENST00000359218.9:c.39941A>T (TTN) ENSP00000352154.5:p.Asp13314Val
ENST00000460472.6:c.39566A>T (TTN) ENSP00000434586.1:p.Asp13189Val
ENST00000589042.5:c.66761A>T (TTN) MANE Select ENSP00000467141.1:p.Asp22254Val
ENST00000591111.5:c.61838A>T (TTN) ENSP00000465570.1:p.Asp20613Val
ENST00000615779.4:c.61838A>T (TTN) ENSP00000483597.1:p.Asp20613Val
NM_001256850.1:c.61838A>T (TTN) NP_001243779.1:p.Asp20613Val
NM_001267550.2:c.66761A>T (TTN) MANE Select NP_001254479.2:p.Asp22254Val
NM_003319.4:c.39566A>T (TTN) NP_003310.4:p.Asp13189Val
NM_133378.4:c.59057A>T (TTN) NP_596869.4:p.Asp19686Val
NM_133432.3:c.39941A>T (TTN) NP_597676.3:p.Asp13314Val
NM_133437.4:c.40142A>T (TTN) NP_597681.4:p.Asp13381Val
NR_038271.1:n.596+10058T>A (TTN-AS1)
NR_038272.1:n.2044-1065T>A (TTN-AS1)
XM_011511729.1:c.65858A>T (TTN) XP_011510031.1:p.Asp21953Val
XM_011511730.1:c.39752A>T (TTN) XP_011510032.1:p.Asp13251Val
XM_011511731.1:c.39611A>T (TTN) XP_011510033.1:p.Asp13204Val
XM_017004819.1:c.65654A>T (TTN) XP_016860308.1:p.Asp21885Val
XM_017004820.1:c.61052A>T (TTN) XP_016860309.1:p.Asp20351Val
XM_017004821.1:c.61049A>T (TTN) XP_016860310.1:p.Asp20350Val
XM_017004822.1:c.58091A>T (TTN) XP_016860311.1:p.Asp19364Val
XM_017004823.1:c.39707A>T (TTN) XP_016860312.1:p.Asp13236Val
XM_024453094.1:c.61202A>T (TTN) XP_024308862.1:p.Asp20401Val
XM_024453095.1:c.61199A>T (TTN) XP_024308863.1:p.Asp20400Val
XM_024453096.1:c.60632A>T (TTN) XP_024308864.1:p.Asp20211Val
XM_024453097.1:c.57974A>T (TTN) XP_024308865.1:p.Asp19325Val
XM_024453098.1:c.57893A>T (TTN) XP_024308866.1:p.Asp19298Val
XM_024453099.1:c.39656A>T (TTN) XP_024308867.1:p.Asp13219Val
XM_024453100.1:c.29510A>T (TTN) XP_024308868.1:p.Asp9837Val