Canonical Allele Identifier: CA349610806
Community Standard Title: NM_001267550.2(TTN):c.12704C>A (p.Ser4235Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178740529G>T , CM000664.2:g.178740529G>T GRCh38
NC_000002.11:g.179605256G>T , CM000664.1:g.179605256G>T GRCh37
NC_000002.10:g.179313501G>T NCBI36
NG_011618.3:g.95274C>A , LRG_391:g.95274C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.12704C>A MANE Select NP_001254479.2:p.Ser4235Ter
ENST00000589042.5:c.12704C>A MANE Select ENSP00000467141.1:p.Ser4235Ter
NM_001256850.1:c.11753C>A NP_001243779.1:p.Ser3918Ter
NM_003319.4:c.11615C>A NP_003310.4:p.Ser3872Ter
NM_133378.4:c.10361-2169C>A NP_596869.4:n.10361-2169C>A
NM_133432.3:c.11990C>A NP_597676.3:p.Ser3997Ter
NM_133437.4:c.12191C>A NP_597681.4:p.Ser4064Ter
ENST00000342175.10:c.12191C>A ENSP00000340554.6:p.Ser4064Ter
ENST00000342175.11:c.12191C>A ENSP00000340554.6:p.Ser4064Ter
ENST00000342992.10:c.10361-2169C>A ENSP00000343764.6:n.10361-2169C>A
ENST00000342992.11:c.10361-2169C>A ENSP00000343764.6:n.10361-2169C>A
ENST00000359218.10:c.11990C>A ENSP00000352154.5:p.Ser3997Ter
ENST00000359218.9:c.11990C>A ENSP00000352154.5:p.Ser3997Ter
ENST00000460472.6:c.11615C>A ENSP00000434586.1:p.Ser3872Ter
ENST00000591111.5:c.11753C>A ENSP00000465570.1:p.Ser3918Ter
ENST00000615779.4:c.11753C>A ENSP00000483597.1:p.Ser3918Ter
XM_011511729.1:c.11801C>A XP_011510031.1:p.Ser3934Ter
XM_011511730.1:c.11801C>A XP_011510032.1:p.Ser3934Ter
XM_011511731.1:c.11660C>A XP_011510033.1:p.Ser3887Ter
XM_017004819.1:c.11756C>A XP_016860308.1:p.Ser3919Ter
XM_017004820.1:c.10364-2169C>A XP_016860309.1:n.10364-2169C>A
XM_017004821.1:c.10361-2169C>A XP_016860310.1:n.10361-2169C>A
XM_017004822.1:c.11756C>A XP_016860311.1:p.Ser3919Ter
XM_017004823.1:c.11756C>A XP_016860312.1:p.Ser3919Ter
XM_024453094.1:c.11756C>A XP_024308862.1:p.Ser3919Ter
XM_024453095.1:c.11756C>A XP_024308863.1:p.Ser3919Ter
XM_024453096.1:c.11756C>A XP_024308864.1:p.Ser3919Ter
XM_024453097.1:c.11756C>A XP_024308865.1:p.Ser3919Ter
XM_024453098.1:c.11756C>A XP_024308866.1:p.Ser3919Ter
XM_024453099.1:c.11756C>A XP_024308867.1:p.Ser3919Ter