Canonical Allele Identifier: CA430251583
Community Standard Title: NM_001267550.2(TTN):c.80820A>G (p.Lys26940=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178565312T>C , CM000664.2:g.178565312T>C GRCh38
NC_000002.11:g.179430039T>C , CM000664.1:g.179430039T>C GRCh37
NC_000002.10:g.179138285T>C NCBI36
NG_011618.3:g.270491A>G , LRG_391:g.270491A>G
NG_051363.1:g.47486T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.80820A>G (TTN) MANE Select NP_001254479.2:p.Lys26940=
ENST00000589042.5:c.80820A>G (TTN) MANE Select ENSP00000467141.1:p.Lys26940=
NM_001256850.1:c.75897A>G (TTN) NP_001243779.1:p.Lys25299=
NM_003319.4:c.53625A>G (TTN) NP_003310.4:p.Lys17875=
NM_133378.4:c.73116A>G (TTN) NP_596869.4:p.Lys24372=
NM_133432.3:c.54000A>G (TTN) NP_597676.3:p.Lys18000=
NM_133437.4:c.54201A>G (TTN) NP_597681.4:p.Lys18067=
NR_038271.1:n.447-5988T>C (TTN-AS1)
NR_038272.1:n.2044-17260T>C (TTN-AS1)
ENST00000342175.10:c.54201A>G (TTN) ENSP00000340554.6:p.Lys18067=
ENST00000342175.11:c.54201A>G (TTN) ENSP00000340554.6:p.Lys18067=
ENST00000342992.10:c.73116A>G (TTN) ENSP00000343764.6:p.Lys24372=
ENST00000342992.11:c.73116A>G (TTN) ENSP00000343764.6:p.Lys24372=
ENST00000359218.10:c.54000A>G (TTN) ENSP00000352154.5:p.Lys18000=
ENST00000359218.9:c.54000A>G (TTN) ENSP00000352154.5:p.Lys18000=
ENST00000460472.6:c.53625A>G (TTN) ENSP00000434586.1:p.Lys17875=
ENST00000591111.5:c.75897A>G (TTN) ENSP00000465570.1:p.Lys25299=
ENST00000615779.4:c.75897A>G (TTN) ENSP00000483597.1:p.Lys25299=
XM_011511729.1:c.79917A>G (TTN) XP_011510031.1:p.Lys26639=
XM_011511730.1:c.53811A>G (TTN) XP_011510032.1:p.Lys17937=
XM_011511731.1:c.53670A>G (TTN) XP_011510033.1:p.Lys17890=
XM_017004819.1:c.79713A>G (TTN) XP_016860308.1:p.Lys26571=
XM_017004820.1:c.75111A>G (TTN) XP_016860309.1:p.Lys25037=
XM_017004821.1:c.75108A>G (TTN) XP_016860310.1:p.Lys25036=
XM_017004822.1:c.72150A>G (TTN) XP_016860311.1:p.Lys24050=
XM_017004823.1:c.53766A>G (TTN) XP_016860312.1:p.Lys17922=
XM_024453094.1:c.75261A>G (TTN) XP_024308862.1:p.Lys25087=
XM_024453095.1:c.75258A>G (TTN) XP_024308863.1:p.Lys25086=
XM_024453096.1:c.74691A>G (TTN) XP_024308864.1:p.Lys24897=
XM_024453097.1:c.72033A>G (TTN) XP_024308865.1:p.Lys24011=
XM_024453098.1:c.71952A>G (TTN) XP_024308866.1:p.Lys23984=
XM_024453099.1:c.53715A>G (TTN) XP_024308867.1:p.Lys17905=
XM_024453100.1:c.43569A>G (TTN) XP_024308868.1:p.Lys14523=