Canonical Allele Identifier: CA349647004
Gene: TTN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178631169G>C , CM000664.2:g.178631169G>C GRCh38
NC_000002.11:g.179495896G>C , CM000664.1:g.179495896G>C GRCh37
NC_000002.10:g.179204141G>C NCBI36
NG_011618.3:g.204634C>G , LRG_391:g.204634C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.36175C>G ENSP00000343764.6:p.Pro12059Ala
ENST00000342175.11:c.17260C>G ENSP00000340554.6:p.Pro5754Ala
ENST00000359218.10:c.17059C>G ENSP00000352154.5:p.Pro5687Ala
ENST00000342175.10:c.17260C>G ENSP00000340554.6:p.Pro5754Ala
ENST00000342992.10:c.36175C>G ENSP00000343764.6:p.Pro12059Ala
ENST00000359218.9:c.17059C>G ENSP00000352154.5:p.Pro5687Ala
ENST00000460472.6:c.16684C>G ENSP00000434586.1:p.Pro5562Ala
ENST00000589042.5:c.43879C>G MANE Select ENSP00000467141.1:p.Pro14627Ala
ENST00000591111.5:c.38956C>G ENSP00000465570.1:p.Pro12986Ala
ENST00000615779.4:c.38956C>G ENSP00000483597.1:p.Pro12986Ala
NM_001256850.1:c.38956C>G NP_001243779.1:p.Pro12986Ala
NM_001267550.2:c.43879C>G MANE Select NP_001254479.2:p.Pro14627Ala
NM_003319.4:c.16684C>G NP_003310.4:p.Pro5562Ala
NM_133378.4:c.36175C>G NP_596869.4:p.Pro12059Ala
NM_133432.3:c.17059C>G NP_597676.3:p.Pro5687Ala
NM_133437.4:c.17260C>G NP_597681.4:p.Pro5754Ala
XM_011511729.1:c.42976C>G XP_011510031.1:p.Pro14326Ala
XM_011511730.1:c.16870C>G XP_011510032.1:p.Pro5624Ala
XM_011511731.1:c.16729C>G XP_011510033.1:p.Pro5577Ala
XM_017004819.1:c.42772C>G XP_016860308.1:p.Pro14258Ala
XM_017004820.1:c.38170C>G XP_016860309.1:p.Pro12724Ala
XM_017004821.1:c.38167C>G XP_016860310.1:p.Pro12723Ala
XM_017004822.1:c.35209C>G XP_016860311.1:p.Pro11737Ala
XM_017004823.1:c.16825C>G XP_016860312.1:p.Pro5609Ala
XM_024453094.1:c.38320C>G XP_024308862.1:p.Pro12774Ala
XM_024453095.1:c.38317C>G XP_024308863.1:p.Pro12773Ala
XM_024453096.1:c.37750C>G XP_024308864.1:p.Pro12584Ala
XM_024453097.1:c.35092C>G XP_024308865.1:p.Pro11698Ala
XM_024453098.1:c.35011C>G XP_024308866.1:p.Pro11671Ala
XM_024453099.1:c.16774C>G XP_024308867.1:p.Pro5592Ala
XM_024453100.1:c.6628C>G XP_024308868.1:p.Pro2210Ala