Canonical Allele Identifier: CA430268627
Community Standard Title: NM_001267550.2(TTN):c.56670A>G (p.Lys18890=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178599040T>C , CM000664.2:g.178599040T>C GRCh38
NC_000002.11:g.179463767T>C , CM000664.1:g.179463767T>C GRCh37
NC_000002.10:g.179172012T>C NCBI36
NG_011618.3:g.236763A>G , LRG_391:g.236763A>G
NG_051363.1:g.81214T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.56670A>G (TTN) MANE Select NP_001254479.2:p.Lys18890=
ENST00000589042.5:c.56670A>G (TTN) MANE Select ENSP00000467141.1:p.Lys18890=
NM_001256850.1:c.51747A>G (TTN) NP_001243779.1:p.Lys17249=
NM_003319.4:c.29475A>G (TTN) NP_003310.4:p.Lys9825=
NM_133378.4:c.48966A>G (TTN) NP_596869.4:p.Lys16322=
NM_133432.3:c.29850A>G (TTN) NP_597676.3:p.Lys9950=
NM_133437.4:c.30051A>G (TTN) NP_597681.4:p.Lys10017=
NR_038271.1:n.682+1359T>C (TTN-AS1)
NR_038272.1:n.3568+367T>C (TTN-AS1)
ENST00000342175.10:c.30051A>G (TTN) ENSP00000340554.6:p.Lys10017=
ENST00000342175.11:c.30051A>G (TTN) ENSP00000340554.6:p.Lys10017=
ENST00000342992.10:c.48966A>G (TTN) ENSP00000343764.6:p.Lys16322=
ENST00000342992.11:c.48966A>G (TTN) ENSP00000343764.6:p.Lys16322=
ENST00000359218.10:c.29850A>G (TTN) ENSP00000352154.5:p.Lys9950=
ENST00000359218.9:c.29850A>G (TTN) ENSP00000352154.5:p.Lys9950=
ENST00000460472.6:c.29475A>G (TTN) ENSP00000434586.1:p.Lys9825=
ENST00000591111.5:c.51747A>G (TTN) ENSP00000465570.1:p.Lys17249=
ENST00000615779.4:c.51747A>G (TTN) ENSP00000483597.1:p.Lys17249=
XM_011511729.1:c.55767A>G (TTN) XP_011510031.1:p.Lys18589=
XM_011511730.1:c.29661A>G (TTN) XP_011510032.1:p.Lys9887=
XM_011511731.1:c.29520A>G (TTN) XP_011510033.1:p.Lys9840=
XM_017004819.1:c.55563A>G (TTN) XP_016860308.1:p.Lys18521=
XM_017004820.1:c.50961A>G (TTN) XP_016860309.1:p.Lys16987=
XM_017004821.1:c.50958A>G (TTN) XP_016860310.1:p.Lys16986=
XM_017004822.1:c.48000A>G (TTN) XP_016860311.1:p.Lys16000=
XM_017004823.1:c.29616A>G (TTN) XP_016860312.1:p.Lys9872=
XM_024453094.1:c.51111A>G (TTN) XP_024308862.1:p.Lys17037=
XM_024453095.1:c.51108A>G (TTN) XP_024308863.1:p.Lys17036=
XM_024453096.1:c.50541A>G (TTN) XP_024308864.1:p.Lys16847=
XM_024453097.1:c.47883A>G (TTN) XP_024308865.1:p.Lys15961=
XM_024453098.1:c.47802A>G (TTN) XP_024308866.1:p.Lys15934=
XM_024453099.1:c.29565A>G (TTN) XP_024308867.1:p.Lys9855=
XM_024453100.1:c.19419A>G (TTN) XP_024308868.1:p.Lys6473=