Canonical Allele Identifier: CA349612371

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178569005A>T , CM000664.2:g.178569005A>T GRCh38
NC_000002.11:g.179433732A>T , CM000664.1:g.179433732A>T GRCh37
NC_000002.10:g.179141978A>T NCBI36
NG_011618.3:g.266798T>A , LRG_391:g.266798T>A
NG_051363.1:g.51179A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.69423T>A (TTN) ENSP00000343764.6:p.Asp23141Glu
ENST00000342175.11:c.50508T>A (TTN) ENSP00000340554.6:p.Asp16836Glu
ENST00000359218.10:c.50307T>A (TTN) ENSP00000352154.5:p.Asp16769Glu
ENST00000342175.10:c.50508T>A (TTN) ENSP00000340554.6:p.Asp16836Glu
ENST00000342992.10:c.69423T>A (TTN) ENSP00000343764.6:p.Asp23141Glu
ENST00000359218.9:c.50307T>A (TTN) ENSP00000352154.5:p.Asp16769Glu
ENST00000460472.6:c.49932T>A (TTN) ENSP00000434586.1:p.Asp16644Glu
ENST00000589042.5:c.77127T>A (TTN) MANE Select ENSP00000467141.1:p.Asp25709Glu
ENST00000591111.5:c.72204T>A (TTN) ENSP00000465570.1:p.Asp24068Glu
ENST00000615779.4:c.72204T>A (TTN) ENSP00000483597.1:p.Asp24068Glu
NM_001256850.1:c.72204T>A (TTN) NP_001243779.1:p.Asp24068Glu
NM_001267550.2:c.77127T>A (TTN) MANE Select NP_001254479.2:p.Asp25709Glu
NM_003319.4:c.49932T>A (TTN) NP_003310.4:p.Asp16644Glu
NM_133378.4:c.69423T>A (TTN) NP_596869.4:p.Asp23141Glu
NM_133432.3:c.50307T>A (TTN) NP_597676.3:p.Asp16769Glu
NM_133437.4:c.50508T>A (TTN) NP_597681.4:p.Asp16836Glu
NR_038271.1:n.447-2295A>T (TTN-AS1)
NR_038272.1:n.2044-13567A>T (TTN-AS1)
XM_011511729.1:c.76224T>A (TTN) XP_011510031.1:p.Asp25408Glu
XM_011511730.1:c.50118T>A (TTN) XP_011510032.1:p.Asp16706Glu
XM_011511731.1:c.49977T>A (TTN) XP_011510033.1:p.Asp16659Glu
XM_017004819.1:c.76020T>A (TTN) XP_016860308.1:p.Asp25340Glu
XM_017004820.1:c.71418T>A (TTN) XP_016860309.1:p.Asp23806Glu
XM_017004821.1:c.71415T>A (TTN) XP_016860310.1:p.Asp23805Glu
XM_017004822.1:c.68457T>A (TTN) XP_016860311.1:p.Asp22819Glu
XM_017004823.1:c.50073T>A (TTN) XP_016860312.1:p.Asp16691Glu
XM_024453094.1:c.71568T>A (TTN) XP_024308862.1:p.Asp23856Glu
XM_024453095.1:c.71565T>A (TTN) XP_024308863.1:p.Asp23855Glu
XM_024453096.1:c.70998T>A (TTN) XP_024308864.1:p.Asp23666Glu
XM_024453097.1:c.68340T>A (TTN) XP_024308865.1:p.Asp22780Glu
XM_024453098.1:c.68259T>A (TTN) XP_024308866.1:p.Asp22753Glu
XM_024453099.1:c.50022T>A (TTN) XP_024308867.1:p.Asp16674Glu
XM_024453100.1:c.39876T>A (TTN) XP_024308868.1:p.Asp13292Glu