Canonical Allele Identifier: CA430271460
Community Standard Title: NM_001267550.2(TTN):c.52050A>G (p.Lys17350=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178609260T>C , CM000664.2:g.178609260T>C GRCh38
NC_000002.11:g.179473987T>C , CM000664.1:g.179473987T>C GRCh37
NC_000002.10:g.179182232T>C NCBI36
NG_011618.3:g.226543A>G , LRG_391:g.226543A>G
NG_051363.1:g.91434T>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.52050A>G (TTN) MANE Select NP_001254479.2:p.Lys17350=
ENST00000589042.5:c.52050A>G (TTN) MANE Select ENSP00000467141.1:p.Lys17350=
NM_001256850.1:c.47127A>G (TTN) NP_001243779.1:p.Lys15709=
NM_003319.4:c.24855A>G (TTN) NP_003310.4:p.Lys8285=
NM_133378.4:c.44346A>G (TTN) NP_596869.4:p.Lys14782=
NM_133432.3:c.25230A>G (TTN) NP_597676.3:p.Lys8410=
NM_133437.4:c.25431A>G (TTN) NP_597681.4:p.Lys8477=
NR_038271.1:n.782+994T>C (TTN-AS1)
ENST00000342175.10:c.25431A>G (TTN) ENSP00000340554.6:p.Lys8477=
ENST00000342175.11:c.25431A>G (TTN) ENSP00000340554.6:p.Lys8477=
ENST00000342992.10:c.44346A>G (TTN) ENSP00000343764.6:p.Lys14782=
ENST00000342992.11:c.44346A>G (TTN) ENSP00000343764.6:p.Lys14782=
ENST00000359218.10:c.25230A>G (TTN) ENSP00000352154.5:p.Lys8410=
ENST00000359218.9:c.25230A>G (TTN) ENSP00000352154.5:p.Lys8410=
ENST00000460472.6:c.24855A>G (TTN) ENSP00000434586.1:p.Lys8285=
ENST00000591111.5:c.47127A>G (TTN) ENSP00000465570.1:p.Lys15709=
ENST00000615779.4:c.47127A>G (TTN) ENSP00000483597.1:p.Lys15709=
XM_011511729.1:c.51147A>G (TTN) XP_011510031.1:p.Lys17049=
XM_011511730.1:c.25041A>G (TTN) XP_011510032.1:p.Lys8347=
XM_011511731.1:c.24900A>G (TTN) XP_011510033.1:p.Lys8300=
XM_017004819.1:c.50943A>G (TTN) XP_016860308.1:p.Lys16981=
XM_017004820.1:c.46341A>G (TTN) XP_016860309.1:p.Lys15447=
XM_017004821.1:c.46338A>G (TTN) XP_016860310.1:p.Lys15446=
XM_017004822.1:c.43380A>G (TTN) XP_016860311.1:p.Lys14460=
XM_017004823.1:c.24996A>G (TTN) XP_016860312.1:p.Lys8332=
XM_024453094.1:c.46491A>G (TTN) XP_024308862.1:p.Lys15497=
XM_024453095.1:c.46488A>G (TTN) XP_024308863.1:p.Lys15496=
XM_024453096.1:c.45921A>G (TTN) XP_024308864.1:p.Lys15307=
XM_024453097.1:c.43263A>G (TTN) XP_024308865.1:p.Lys14421=
XM_024453098.1:c.43182A>G (TTN) XP_024308866.1:p.Lys14394=
XM_024453099.1:c.24945A>G (TTN) XP_024308867.1:p.Lys8315=
XM_024453100.1:c.14799A>G (TTN) XP_024308868.1:p.Lys4933=