Canonical Allele Identifier: CA430241821
Community Standard Title: NM_001267550.2(TTN):c.95490A>G (p.Lys31830=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178545620T>C , CM000664.2:g.178545620T>C GRCh38
NC_000002.11:g.179410347T>C , CM000664.1:g.179410347T>C GRCh37
NC_000002.10:g.179118593T>C NCBI36
NG_011618.3:g.290183A>G , LRG_391:g.290183A>G
NG_051363.1:g.27794T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.95490A>G (TTN) MANE Select NP_001254479.2:p.Lys31830=
ENST00000589042.5:c.95490A>G (TTN) MANE Select ENSP00000467141.1:p.Lys31830=
NM_001256850.1:c.90567A>G (TTN) NP_001243779.1:p.Lys30189=
NM_003319.4:c.68295A>G (TTN) NP_003310.4:p.Lys22765=
NM_133378.4:c.87786A>G (TTN) NP_596869.4:p.Lys29262=
NM_133432.3:c.68670A>G (TTN) NP_597676.3:p.Lys22890=
NM_133437.4:c.68871A>G (TTN) NP_597681.4:p.Lys22957=
NR_038271.1:n.446+21984T>C (TTN-AS1)
NR_038272.1:n.2043+3259T>C (TTN-AS1)
ENST00000342175.10:c.68871A>G (TTN) ENSP00000340554.6:p.Lys22957=
ENST00000342175.11:c.68871A>G (TTN) ENSP00000340554.6:p.Lys22957=
ENST00000342992.10:c.87786A>G (TTN) ENSP00000343764.6:p.Lys29262=
ENST00000342992.11:c.87786A>G (TTN) ENSP00000343764.6:p.Lys29262=
ENST00000359218.10:c.68670A>G (TTN) ENSP00000352154.5:p.Lys22890=
ENST00000359218.9:c.68670A>G (TTN) ENSP00000352154.5:p.Lys22890=
ENST00000460472.6:c.68295A>G (TTN) ENSP00000434586.1:p.Lys22765=
ENST00000591111.5:c.90567A>G (TTN) ENSP00000465570.1:p.Lys30189=
ENST00000615779.4:c.90567A>G (TTN) ENSP00000483597.1:p.Lys30189=
XM_011511729.1:c.94587A>G (TTN) XP_011510031.1:p.Lys31529=
XM_011511730.1:c.68481A>G (TTN) XP_011510032.1:p.Lys22827=
XM_011511731.1:c.68340A>G (TTN) XP_011510033.1:p.Lys22780=
XM_017004819.1:c.94383A>G (TTN) XP_016860308.1:p.Lys31461=
XM_017004820.1:c.89781A>G (TTN) XP_016860309.1:p.Lys29927=
XM_017004821.1:c.89778A>G (TTN) XP_016860310.1:p.Lys29926=
XM_017004822.1:c.86820A>G (TTN) XP_016860311.1:p.Lys28940=
XM_017004823.1:c.68436A>G (TTN) XP_016860312.1:p.Lys22812=
XM_024453094.1:c.89931A>G (TTN) XP_024308862.1:p.Lys29977=
XM_024453095.1:c.89928A>G (TTN) XP_024308863.1:p.Lys29976=
XM_024453096.1:c.89361A>G (TTN) XP_024308864.1:p.Lys29787=
XM_024453097.1:c.86703A>G (TTN) XP_024308865.1:p.Lys28901=
XM_024453098.1:c.86622A>G (TTN) XP_024308866.1:p.Lys28874=
XM_024453099.1:c.68385A>G (TTN) XP_024308867.1:p.Lys22795=
XM_024453100.1:c.58239A>G (TTN) XP_024308868.1:p.Lys19413=