Canonical Allele Identifier: CA349646987
Gene: TTN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178631165G>A , CM000664.2:g.178631165G>A GRCh38
NC_000002.11:g.179495892G>A , CM000664.1:g.179495892G>A GRCh37
NC_000002.10:g.179204137G>A NCBI36
NG_011618.3:g.204638C>T , LRG_391:g.204638C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.36179C>T ENSP00000343764.6:p.Ser12060Phe
ENST00000342175.11:c.17264C>T ENSP00000340554.6:p.Ser5755Phe
ENST00000359218.10:c.17063C>T ENSP00000352154.5:p.Ser5688Phe
ENST00000342175.10:c.17264C>T ENSP00000340554.6:p.Ser5755Phe
ENST00000342992.10:c.36179C>T ENSP00000343764.6:p.Ser12060Phe
ENST00000359218.9:c.17063C>T ENSP00000352154.5:p.Ser5688Phe
ENST00000460472.6:c.16688C>T ENSP00000434586.1:p.Ser5563Phe
ENST00000589042.5:c.43883C>T MANE Select ENSP00000467141.1:p.Ser14628Phe
ENST00000591111.5:c.38960C>T ENSP00000465570.1:p.Ser12987Phe
ENST00000615779.4:c.38960C>T ENSP00000483597.1:p.Ser12987Phe
NM_001256850.1:c.38960C>T NP_001243779.1:p.Ser12987Phe
NM_001267550.2:c.43883C>T MANE Select NP_001254479.2:p.Ser14628Phe
NM_003319.4:c.16688C>T NP_003310.4:p.Ser5563Phe
NM_133378.4:c.36179C>T NP_596869.4:p.Ser12060Phe
NM_133432.3:c.17063C>T NP_597676.3:p.Ser5688Phe
NM_133437.4:c.17264C>T NP_597681.4:p.Ser5755Phe
XM_011511729.1:c.42980C>T XP_011510031.1:p.Ser14327Phe
XM_011511730.1:c.16874C>T XP_011510032.1:p.Ser5625Phe
XM_011511731.1:c.16733C>T XP_011510033.1:p.Ser5578Phe
XM_017004819.1:c.42776C>T XP_016860308.1:p.Ser14259Phe
XM_017004820.1:c.38174C>T XP_016860309.1:p.Ser12725Phe
XM_017004821.1:c.38171C>T XP_016860310.1:p.Ser12724Phe
XM_017004822.1:c.35213C>T XP_016860311.1:p.Ser11738Phe
XM_017004823.1:c.16829C>T XP_016860312.1:p.Ser5610Phe
XM_024453094.1:c.38324C>T XP_024308862.1:p.Ser12775Phe
XM_024453095.1:c.38321C>T XP_024308863.1:p.Ser12774Phe
XM_024453096.1:c.37754C>T XP_024308864.1:p.Ser12585Phe
XM_024453097.1:c.35096C>T XP_024308865.1:p.Ser11699Phe
XM_024453098.1:c.35015C>T XP_024308866.1:p.Ser11672Phe
XM_024453099.1:c.16778C>T XP_024308867.1:p.Ser5593Phe
XM_024453100.1:c.6632C>T XP_024308868.1:p.Ser2211Phe