Canonical Allele Identifier: CA349649542
Community Standard Title: NM_001267550.2(TTN):c.43655C>A (p.Ser14552Ter)
Gene: TTN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178632239G>T , CM000664.2:g.178632239G>T GRCh38
NC_000002.11:g.179496966G>T , CM000664.1:g.179496966G>T GRCh37
NC_000002.10:g.179205211G>T NCBI36
NG_011618.3:g.203564C>A , LRG_391:g.203564C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.43655C>A MANE Select NP_001254479.2:p.Ser14552Ter
ENST00000589042.5:c.43655C>A MANE Select ENSP00000467141.1:p.Ser14552Ter
NM_001256850.1:c.38732C>A NP_001243779.1:p.Ser12911Ter
NM_003319.4:c.16460C>A NP_003310.4:p.Ser5487Ter
NM_133378.4:c.35951C>A NP_596869.4:p.Ser11984Ter
NM_133432.3:c.16835C>A NP_597676.3:p.Ser5612Ter
NM_133437.4:c.17036C>A NP_597681.4:p.Ser5679Ter
ENST00000342175.10:c.17036C>A ENSP00000340554.6:p.Ser5679Ter
ENST00000342175.11:c.17036C>A ENSP00000340554.6:p.Ser5679Ter
ENST00000342992.10:c.35951C>A ENSP00000343764.6:p.Ser11984Ter
ENST00000342992.11:c.35951C>A ENSP00000343764.6:p.Ser11984Ter
ENST00000359218.10:c.16835C>A ENSP00000352154.5:p.Ser5612Ter
ENST00000359218.9:c.16835C>A ENSP00000352154.5:p.Ser5612Ter
ENST00000460472.6:c.16460C>A ENSP00000434586.1:p.Ser5487Ter
ENST00000591111.5:c.38732C>A ENSP00000465570.1:p.Ser12911Ter
ENST00000615779.4:c.38732C>A ENSP00000483597.1:p.Ser12911Ter
XM_011511729.1:c.42752C>A XP_011510031.1:p.Ser14251Ter
XM_011511730.1:c.16646C>A XP_011510032.1:p.Ser5549Ter
XM_011511731.1:c.16505C>A XP_011510033.1:p.Ser5502Ter
XM_017004819.1:c.42548C>A XP_016860308.1:p.Ser14183Ter
XM_017004820.1:c.37946C>A XP_016860309.1:p.Ser12649Ter
XM_017004821.1:c.37943C>A XP_016860310.1:p.Ser12648Ter
XM_017004822.1:c.34985C>A XP_016860311.1:p.Ser11662Ter
XM_017004823.1:c.16601C>A XP_016860312.1:p.Ser5534Ter
XM_024453094.1:c.38096C>A XP_024308862.1:p.Ser12699Ter
XM_024453095.1:c.38093C>A XP_024308863.1:p.Ser12698Ter
XM_024453096.1:c.37526C>A XP_024308864.1:p.Ser12509Ter
XM_024453097.1:c.34868C>A XP_024308865.1:p.Ser11623Ter
XM_024453098.1:c.34787C>A XP_024308866.1:p.Ser11596Ter
XM_024453099.1:c.16550C>A XP_024308867.1:p.Ser5517Ter
XM_024453100.1:c.6404C>A XP_024308868.1:p.Ser2135Ter