Canonical Allele Identifier: CA1139657467
Community Standard Title: NM_001267550.2(TTN):c.40559-8C>G
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178641323G>C , CM000664.2:g.178641323G>C GRCh38
NC_000002.11:g.179506050G>C , CM000664.1:g.179506050G>C GRCh37
NC_000002.10:g.179214295G>C NCBI36
NG_011618.3:g.194480C>G , LRG_391:g.194480C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.40559-8C>G MANE Select NP_001254479.2:n.40559-8C>G
ENST00000589042.5:c.40559-8C>G MANE Select ENSP00000467141.1:n.40559-8C>G
NM_001256850.1:c.35636-8C>G NP_001243779.1:n.35636-8C>G
NM_003319.4:c.13364-8C>G NP_003310.4:n.13364-8C>G
NM_133378.4:c.32855-8C>G NP_596869.4:n.32855-8C>G
NM_133432.3:c.13739-8C>G NP_597676.3:n.13739-8C>G
NM_133437.4:c.13940-8C>G NP_597681.4:n.13940-8C>G
ENST00000342175.10:c.13940-8C>G ENSP00000340554.6:n.13940-8C>G
ENST00000342175.11:c.13940-8C>G ENSP00000340554.6:n.13940-8C>G
ENST00000342992.10:c.32855-8C>G ENSP00000343764.6:n.32855-8C>G
ENST00000342992.11:c.32855-8C>G ENSP00000343764.6:n.32855-8C>G
ENST00000359218.10:c.13739-8C>G ENSP00000352154.5:n.13739-8C>G
ENST00000359218.9:c.13739-8C>G ENSP00000352154.5:n.13739-8C>G
ENST00000414766.5:c.2522-8C>G ENSP00000401501.1:n.2522-8C>G
ENST00000426232.5:c.597-693C>G
ENST00000446966.1:c.995-693C>G ENSP00000408004.1:n.995-693C>G
ENST00000460472.6:c.13364-8C>G ENSP00000434586.1:n.13364-8C>G
ENST00000591111.5:c.35636-8C>G ENSP00000465570.1:n.35636-8C>G
ENST00000615779.4:c.35636-8C>G ENSP00000483597.1:n.35636-8C>G
XM_011511729.1:c.39656-8C>G XP_011510031.1:n.39656-8C>G
XM_011511730.1:c.13550-8C>G XP_011510032.1:n.13550-8C>G
XM_011511731.1:c.13409-8C>G XP_011510033.1:n.13409-8C>G
XM_017004819.1:c.39452-8C>G XP_016860308.1:n.39452-8C>G
XM_017004820.1:c.34850-8C>G XP_016860309.1:n.34850-8C>G
XM_017004821.1:c.34847-8C>G XP_016860310.1:n.34847-8C>G
XM_017004822.1:c.31940-8C>G XP_016860311.1:n.31940-8C>G
XM_017004823.1:c.13505-8C>G XP_016860312.1:n.13505-8C>G
XM_024453094.1:c.35000-8C>G XP_024308862.1:n.35000-8C>G
XM_024453095.1:c.34997-8C>G XP_024308863.1:n.34997-8C>G
XM_024453096.1:c.34430-8C>G XP_024308864.1:n.34430-8C>G
XM_024453097.1:c.31772-8C>G XP_024308865.1:n.31772-8C>G
XM_024453098.1:c.31691-8C>G XP_024308866.1:n.31691-8C>G
XM_024453099.1:c.13505-8C>G XP_024308867.1:n.13505-8C>G
XM_024453100.1:c.3308-8C>G XP_024308868.1:n.3308-8C>G