Canonical Allele Identifier: CA349582548

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178609689G>C , CM000664.2:g.178609689G>C GRCh38
NC_000002.11:g.179474416G>C , CM000664.1:g.179474416G>C GRCh37
NC_000002.10:g.179182661G>C NCBI36
NG_011618.3:g.226114C>G , LRG_391:g.226114C>G
NG_051363.1:g.91863G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.44030C>G (TTN) ENSP00000343764.6:p.Pro14677Arg
ENST00000342175.11:c.25115C>G (TTN) ENSP00000340554.6:p.Pro8372Arg
ENST00000359218.10:c.24914C>G (TTN) ENSP00000352154.5:p.Pro8305Arg
ENST00000342175.10:c.25115C>G (TTN) ENSP00000340554.6:p.Pro8372Arg
ENST00000342992.10:c.44030C>G (TTN) ENSP00000343764.6:p.Pro14677Arg
ENST00000359218.9:c.24914C>G (TTN) ENSP00000352154.5:p.Pro8305Arg
ENST00000460472.6:c.24539C>G (TTN) ENSP00000434586.1:p.Pro8180Arg
ENST00000589042.5:c.51734C>G (TTN) MANE Select ENSP00000467141.1:p.Pro17245Arg
ENST00000591111.5:c.46811C>G (TTN) ENSP00000465570.1:p.Pro15604Arg
ENST00000615779.4:c.46811C>G (TTN) ENSP00000483597.1:p.Pro15604Arg
NM_001256850.1:c.46811C>G (TTN) NP_001243779.1:p.Pro15604Arg
NM_001267550.2:c.51734C>G (TTN) MANE Select NP_001254479.2:p.Pro17245Arg
NM_003319.4:c.24539C>G (TTN) NP_003310.4:p.Pro8180Arg
NM_133378.4:c.44030C>G (TTN) NP_596869.4:p.Pro14677Arg
NM_133432.3:c.24914C>G (TTN) NP_597676.3:p.Pro8305Arg
NM_133437.4:c.25115C>G (TTN) NP_597681.4:p.Pro8372Arg
NR_038271.1:n.782+1423G>C (TTN-AS1)
XM_011511729.1:c.50831C>G (TTN) XP_011510031.1:p.Pro16944Arg
XM_011511730.1:c.24725C>G (TTN) XP_011510032.1:p.Pro8242Arg
XM_011511731.1:c.24584C>G (TTN) XP_011510033.1:p.Pro8195Arg
XM_017004819.1:c.50627C>G (TTN) XP_016860308.1:p.Pro16876Arg
XM_017004820.1:c.46025C>G (TTN) XP_016860309.1:p.Pro15342Arg
XM_017004821.1:c.46022C>G (TTN) XP_016860310.1:p.Pro15341Arg
XM_017004822.1:c.43064C>G (TTN) XP_016860311.1:p.Pro14355Arg
XM_017004823.1:c.24680C>G (TTN) XP_016860312.1:p.Pro8227Arg
XM_024453094.1:c.46175C>G (TTN) XP_024308862.1:p.Pro15392Arg
XM_024453095.1:c.46172C>G (TTN) XP_024308863.1:p.Pro15391Arg
XM_024453096.1:c.45605C>G (TTN) XP_024308864.1:p.Pro15202Arg
XM_024453097.1:c.42947C>G (TTN) XP_024308865.1:p.Pro14316Arg
XM_024453098.1:c.42866C>G (TTN) XP_024308866.1:p.Pro14289Arg
XM_024453099.1:c.24629C>G (TTN) XP_024308867.1:p.Pro8210Arg
XM_024453100.1:c.14483C>G (TTN) XP_024308868.1:p.Pro4828Arg