Canonical Allele Identifier: CA349450233

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543839A>T , CM000664.2:g.178543839A>T GRCh38
NC_000002.11:g.179408566A>T , CM000664.1:g.179408566A>T GRCh37
NC_000002.10:g.179116812A>T NCBI36
NG_011618.3:g.291964T>A , LRG_391:g.291964T>A
NG_051363.1:g.26013A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88601T>A (TTN) ENSP00000343764.6:p.Val29534Asp
ENST00000342175.11:c.69686T>A (TTN) ENSP00000340554.6:p.Val23229Asp
ENST00000359218.10:c.69485T>A (TTN) ENSP00000352154.5:p.Val23162Asp
ENST00000342175.10:c.69686T>A (TTN) ENSP00000340554.6:p.Val23229Asp
ENST00000342992.10:c.88601T>A (TTN) ENSP00000343764.6:p.Val29534Asp
ENST00000359218.9:c.69485T>A (TTN) ENSP00000352154.5:p.Val23162Asp
ENST00000460472.6:c.69110T>A (TTN) ENSP00000434586.1:p.Val23037Asp
ENST00000589042.5:c.96305T>A (TTN) MANE Select ENSP00000467141.1:p.Val32102Asp
ENST00000591111.5:c.91382T>A (TTN) ENSP00000465570.1:p.Val30461Asp
ENST00000615779.4:c.91382T>A (TTN) ENSP00000483597.1:p.Val30461Asp
NM_001256850.1:c.91382T>A (TTN) NP_001243779.1:p.Val30461Asp
NM_001267550.2:c.96305T>A (TTN) MANE Select NP_001254479.2:p.Val32102Asp
NM_003319.4:c.69110T>A (TTN) NP_003310.4:p.Val23037Asp
NM_133378.4:c.88601T>A (TTN) NP_596869.4:p.Val29534Asp
NM_133432.3:c.69485T>A (TTN) NP_597676.3:p.Val23162Asp
NM_133437.4:c.69686T>A (TTN) NP_597681.4:p.Val23229Asp
NR_038271.1:n.446+20203A>T (TTN-AS1)
NR_038272.1:n.2043+1478A>T (TTN-AS1)
XM_011511729.1:c.95402T>A (TTN) XP_011510031.1:p.Val31801Asp
XM_011511730.1:c.69296T>A (TTN) XP_011510032.1:p.Val23099Asp
XM_011511731.1:c.69155T>A (TTN) XP_011510033.1:p.Val23052Asp
XM_017004819.1:c.95198T>A (TTN) XP_016860308.1:p.Val31733Asp
XM_017004820.1:c.90596T>A (TTN) XP_016860309.1:p.Val30199Asp
XM_017004821.1:c.90593T>A (TTN) XP_016860310.1:p.Val30198Asp
XM_017004822.1:c.87635T>A (TTN) XP_016860311.1:p.Val29212Asp
XM_017004823.1:c.69251T>A (TTN) XP_016860312.1:p.Val23084Asp
XM_024453094.1:c.90746T>A (TTN) XP_024308862.1:p.Val30249Asp
XM_024453095.1:c.90743T>A (TTN) XP_024308863.1:p.Val30248Asp
XM_024453096.1:c.90176T>A (TTN) XP_024308864.1:p.Val30059Asp
XM_024453097.1:c.87518T>A (TTN) XP_024308865.1:p.Val29173Asp
XM_024453098.1:c.87437T>A (TTN) XP_024308866.1:p.Val29146Asp
XM_024453099.1:c.69200T>A (TTN) XP_024308867.1:p.Val23067Asp
XM_024453100.1:c.59054T>A (TTN) XP_024308868.1:p.Val19685Asp