Canonical Allele Identifier: CA349407219

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530602G>A , CM000664.2:g.178530602G>A GRCh38
NC_000002.11:g.179395329G>A , CM000664.1:g.179395329G>A GRCh37
NC_000002.10:g.179103575G>A NCBI36
NG_011618.3:g.305201C>T , LRG_391:g.305201C>T
NG_051363.1:g.12776G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98309C>T (TTN) ENSP00000343764.6:p.Ala32770Val
ENST00000342175.11:c.79394C>T (TTN) ENSP00000340554.6:p.Ala26465Val
ENST00000359218.10:c.79193C>T (TTN) ENSP00000352154.5:p.Ala26398Val
ENST00000342175.10:c.79394C>T (TTN) ENSP00000340554.6:p.Ala26465Val
ENST00000342992.10:c.98309C>T (TTN) ENSP00000343764.6:p.Ala32770Val
ENST00000359218.9:c.79193C>T (TTN) ENSP00000352154.5:p.Ala26398Val
ENST00000460472.6:c.78818C>T (TTN) ENSP00000434586.1:p.Ala26273Val
ENST00000589042.5:c.106013C>T (TTN) MANE Select ENSP00000467141.1:p.Ala35338Val
ENST00000591111.5:c.101090C>T (TTN) ENSP00000465570.1:p.Ala33697Val
ENST00000615779.4:c.101090C>T (TTN) ENSP00000483597.1:p.Ala33697Val
NM_001256850.1:c.101090C>T (TTN) NP_001243779.1:p.Ala33697Val
NM_001267550.2:c.106013C>T (TTN) MANE Select NP_001254479.2:p.Ala35338Val
NM_003319.4:c.78818C>T (TTN) NP_003310.4:p.Ala26273Val
NM_133378.4:c.98309C>T (TTN) NP_596869.4:p.Ala32770Val
NM_133432.3:c.79193C>T (TTN) NP_597676.3:p.Ala26398Val
NM_133437.4:c.79394C>T (TTN) NP_597681.4:p.Ala26465Val
NR_038271.1:n.446+6966G>A (TTN-AS1)
NR_038272.1:n.220-5130G>A (TTN-AS1)
XM_011511729.1:c.105110C>T (TTN) XP_011510031.1:p.Ala35037Val
XM_011511730.1:c.79004C>T (TTN) XP_011510032.1:p.Ala26335Val
XM_011511731.1:c.78863C>T (TTN) XP_011510033.1:p.Ala26288Val
XM_017004819.1:c.104906C>T (TTN) XP_016860308.1:p.Ala34969Val
XM_017004820.1:c.100304C>T (TTN) XP_016860309.1:p.Ala33435Val
XM_017004821.1:c.100301C>T (TTN) XP_016860310.1:p.Ala33434Val
XM_017004822.1:c.97343C>T (TTN) XP_016860311.1:p.Ala32448Val
XM_017004823.1:c.78959C>T (TTN) XP_016860312.1:p.Ala26320Val
XM_024453094.1:c.100454C>T (TTN) XP_024308862.1:p.Ala33485Val
XM_024453095.1:c.100451C>T (TTN) XP_024308863.1:p.Ala33484Val
XM_024453096.1:c.99884C>T (TTN) XP_024308864.1:p.Ala33295Val
XM_024453097.1:c.97226C>T (TTN) XP_024308865.1:p.Ala32409Val
XM_024453098.1:c.97145C>T (TTN) XP_024308866.1:p.Ala32382Val
XM_024453099.1:c.78908C>T (TTN) XP_024308867.1:p.Ala26303Val
XM_024453100.1:c.68762C>T (TTN) XP_024308868.1:p.Ala22921Val