Canonical Allele Identifier: CA349645124
Gene: TTN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178630246A>C , CM000664.2:g.178630246A>C GRCh38
NC_000002.11:g.179494973A>C , CM000664.1:g.179494973A>C GRCh37
NC_000002.10:g.179203218A>C NCBI36
NG_011618.3:g.205557T>G , LRG_391:g.205557T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.36572T>G ENSP00000343764.6:p.Val12191Gly
ENST00000342175.11:c.17657T>G ENSP00000340554.6:p.Val5886Gly
ENST00000359218.10:c.17456T>G ENSP00000352154.5:p.Val5819Gly
ENST00000342175.10:c.17657T>G ENSP00000340554.6:p.Val5886Gly
ENST00000342992.10:c.36572T>G ENSP00000343764.6:p.Val12191Gly
ENST00000359218.9:c.17456T>G ENSP00000352154.5:p.Val5819Gly
ENST00000460472.6:c.17081T>G ENSP00000434586.1:p.Val5694Gly
ENST00000589042.5:c.44276T>G MANE Select ENSP00000467141.1:p.Val14759Gly
ENST00000591111.5:c.39353T>G ENSP00000465570.1:p.Val13118Gly
ENST00000615779.4:c.39353T>G ENSP00000483597.1:p.Val13118Gly
NM_001256850.1:c.39353T>G NP_001243779.1:p.Val13118Gly
NM_001267550.2:c.44276T>G MANE Select NP_001254479.2:p.Val14759Gly
NM_003319.4:c.17081T>G NP_003310.4:p.Val5694Gly
NM_133378.4:c.36572T>G NP_596869.4:p.Val12191Gly
NM_133432.3:c.17456T>G NP_597676.3:p.Val5819Gly
NM_133437.4:c.17657T>G NP_597681.4:p.Val5886Gly
XM_011511729.1:c.43373T>G XP_011510031.1:p.Val14458Gly
XM_011511730.1:c.17267T>G XP_011510032.1:p.Val5756Gly
XM_011511731.1:c.17126T>G XP_011510033.1:p.Val5709Gly
XM_017004819.1:c.43169T>G XP_016860308.1:p.Val14390Gly
XM_017004820.1:c.38567T>G XP_016860309.1:p.Val12856Gly
XM_017004821.1:c.38564T>G XP_016860310.1:p.Val12855Gly
XM_017004822.1:c.35606T>G XP_016860311.1:p.Val11869Gly
XM_017004823.1:c.17222T>G XP_016860312.1:p.Val5741Gly
XM_024453094.1:c.38717T>G XP_024308862.1:p.Val12906Gly
XM_024453095.1:c.38714T>G XP_024308863.1:p.Val12905Gly
XM_024453096.1:c.38147T>G XP_024308864.1:p.Val12716Gly
XM_024453097.1:c.35489T>G XP_024308865.1:p.Val11830Gly
XM_024453098.1:c.35408T>G XP_024308866.1:p.Val11803Gly
XM_024453099.1:c.17171T>G XP_024308867.1:p.Val5724Gly
XM_024453100.1:c.7025T>G XP_024308868.1:p.Val2342Gly