Canonical Allele Identifier: CA349471112

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546719G>T , CM000664.2:g.178546719G>T GRCh38
NC_000002.11:g.179411446G>T , CM000664.1:g.179411446G>T GRCh37
NC_000002.10:g.179119692G>T NCBI36
NG_011618.3:g.289084C>A , LRG_391:g.289084C>A
NG_051363.1:g.28893G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.87005C>A (TTN) ENSP00000343764.6:p.Thr29002Asn
ENST00000342175.11:c.68090C>A (TTN) ENSP00000340554.6:p.Thr22697Asn
ENST00000359218.10:c.67889C>A (TTN) ENSP00000352154.5:p.Thr22630Asn
ENST00000342175.10:c.68090C>A (TTN) ENSP00000340554.6:p.Thr22697Asn
ENST00000342992.10:c.87005C>A (TTN) ENSP00000343764.6:p.Thr29002Asn
ENST00000359218.9:c.67889C>A (TTN) ENSP00000352154.5:p.Thr22630Asn
ENST00000460472.6:c.67514C>A (TTN) ENSP00000434586.1:p.Thr22505Asn
ENST00000589042.5:c.94709C>A (TTN) MANE Select ENSP00000467141.1:p.Thr31570Asn
ENST00000591111.5:c.89786C>A (TTN) ENSP00000465570.1:p.Thr29929Asn
ENST00000615779.4:c.89786C>A (TTN) ENSP00000483597.1:p.Thr29929Asn
NM_001256850.1:c.89786C>A (TTN) NP_001243779.1:p.Thr29929Asn
NM_001267550.2:c.94709C>A (TTN) MANE Select NP_001254479.2:p.Thr31570Asn
NM_003319.4:c.67514C>A (TTN) NP_003310.4:p.Thr22505Asn
NM_133378.4:c.87005C>A (TTN) NP_596869.4:p.Thr29002Asn
NM_133432.3:c.67889C>A (TTN) NP_597676.3:p.Thr22630Asn
NM_133437.4:c.68090C>A (TTN) NP_597681.4:p.Thr22697Asn
NR_038271.1:n.446+23083G>T (TTN-AS1)
NR_038272.1:n.2043+4358G>T (TTN-AS1)
XM_011511729.1:c.93806C>A (TTN) XP_011510031.1:p.Thr31269Asn
XM_011511730.1:c.67700C>A (TTN) XP_011510032.1:p.Thr22567Asn
XM_011511731.1:c.67559C>A (TTN) XP_011510033.1:p.Thr22520Asn
XM_017004819.1:c.93602C>A (TTN) XP_016860308.1:p.Thr31201Asn
XM_017004820.1:c.89000C>A (TTN) XP_016860309.1:p.Thr29667Asn
XM_017004821.1:c.88997C>A (TTN) XP_016860310.1:p.Thr29666Asn
XM_017004822.1:c.86039C>A (TTN) XP_016860311.1:p.Thr28680Asn
XM_017004823.1:c.67655C>A (TTN) XP_016860312.1:p.Thr22552Asn
XM_024453094.1:c.89150C>A (TTN) XP_024308862.1:p.Thr29717Asn
XM_024453095.1:c.89147C>A (TTN) XP_024308863.1:p.Thr29716Asn
XM_024453096.1:c.88580C>A (TTN) XP_024308864.1:p.Thr29527Asn
XM_024453097.1:c.85922C>A (TTN) XP_024308865.1:p.Thr28641Asn
XM_024453098.1:c.85841C>A (TTN) XP_024308866.1:p.Thr28614Asn
XM_024453099.1:c.67604C>A (TTN) XP_024308867.1:p.Thr22535Asn
XM_024453100.1:c.57458C>A (TTN) XP_024308868.1:p.Thr19153Asn