Canonical Allele Identifier: CA349647000
Gene: TTN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178631168G>A , CM000664.2:g.178631168G>A GRCh38
NC_000002.11:g.179495895G>A , CM000664.1:g.179495895G>A GRCh37
NC_000002.10:g.179204140G>A NCBI36
NG_011618.3:g.204635C>T , LRG_391:g.204635C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.36176C>T ENSP00000343764.6:p.Pro12059Leu
ENST00000342175.11:c.17261C>T ENSP00000340554.6:p.Pro5754Leu
ENST00000359218.10:c.17060C>T ENSP00000352154.5:p.Pro5687Leu
ENST00000342175.10:c.17261C>T ENSP00000340554.6:p.Pro5754Leu
ENST00000342992.10:c.36176C>T ENSP00000343764.6:p.Pro12059Leu
ENST00000359218.9:c.17060C>T ENSP00000352154.5:p.Pro5687Leu
ENST00000460472.6:c.16685C>T ENSP00000434586.1:p.Pro5562Leu
ENST00000589042.5:c.43880C>T MANE Select ENSP00000467141.1:p.Pro14627Leu
ENST00000591111.5:c.38957C>T ENSP00000465570.1:p.Pro12986Leu
ENST00000615779.4:c.38957C>T ENSP00000483597.1:p.Pro12986Leu
NM_001256850.1:c.38957C>T NP_001243779.1:p.Pro12986Leu
NM_001267550.2:c.43880C>T MANE Select NP_001254479.2:p.Pro14627Leu
NM_003319.4:c.16685C>T NP_003310.4:p.Pro5562Leu
NM_133378.4:c.36176C>T NP_596869.4:p.Pro12059Leu
NM_133432.3:c.17060C>T NP_597676.3:p.Pro5687Leu
NM_133437.4:c.17261C>T NP_597681.4:p.Pro5754Leu
XM_011511729.1:c.42977C>T XP_011510031.1:p.Pro14326Leu
XM_011511730.1:c.16871C>T XP_011510032.1:p.Pro5624Leu
XM_011511731.1:c.16730C>T XP_011510033.1:p.Pro5577Leu
XM_017004819.1:c.42773C>T XP_016860308.1:p.Pro14258Leu
XM_017004820.1:c.38171C>T XP_016860309.1:p.Pro12724Leu
XM_017004821.1:c.38168C>T XP_016860310.1:p.Pro12723Leu
XM_017004822.1:c.35210C>T XP_016860311.1:p.Pro11737Leu
XM_017004823.1:c.16826C>T XP_016860312.1:p.Pro5609Leu
XM_024453094.1:c.38321C>T XP_024308862.1:p.Pro12774Leu
XM_024453095.1:c.38318C>T XP_024308863.1:p.Pro12773Leu
XM_024453096.1:c.37751C>T XP_024308864.1:p.Pro12584Leu
XM_024453097.1:c.35093C>T XP_024308865.1:p.Pro11698Leu
XM_024453098.1:c.35012C>T XP_024308866.1:p.Pro11671Leu
XM_024453099.1:c.16775C>T XP_024308867.1:p.Pro5592Leu
XM_024453100.1:c.6629C>T XP_024308868.1:p.Pro2210Leu