Canonical Allele Identifier: CA349672187

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178578002G>C , CM000664.2:g.178578002G>C GRCh38
NC_000002.11:g.179442729G>C , CM000664.1:g.179442729G>C GRCh37
NC_000002.10:g.179150975G>C NCBI36
NG_011618.3:g.257801C>G , LRG_391:g.257801C>G
NG_051363.1:g.60176G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.60809C>G (TTN) ENSP00000343764.6:p.Ala20270Gly
ENST00000342175.11:c.41894C>G (TTN) ENSP00000340554.6:p.Ala13965Gly
ENST00000359218.10:c.41693C>G (TTN) ENSP00000352154.5:p.Ala13898Gly
ENST00000342175.10:c.41894C>G (TTN) ENSP00000340554.6:p.Ala13965Gly
ENST00000342992.10:c.60809C>G (TTN) ENSP00000343764.6:p.Ala20270Gly
ENST00000359218.9:c.41693C>G (TTN) ENSP00000352154.5:p.Ala13898Gly
ENST00000460472.6:c.41318C>G (TTN) ENSP00000434586.1:p.Ala13773Gly
ENST00000589042.5:c.68513C>G (TTN) MANE Select ENSP00000467141.1:p.Ala22838Gly
ENST00000591111.5:c.63590C>G (TTN) ENSP00000465570.1:p.Ala21197Gly
ENST00000615779.4:c.63590C>G (TTN) ENSP00000483597.1:p.Ala21197Gly
NM_001256850.1:c.63590C>G (TTN) NP_001243779.1:p.Ala21197Gly
NM_001267550.2:c.68513C>G (TTN) MANE Select NP_001254479.2:p.Ala22838Gly
NM_003319.4:c.41318C>G (TTN) NP_003310.4:p.Ala13773Gly
NM_133378.4:c.60809C>G (TTN) NP_596869.4:p.Ala20270Gly
NM_133432.3:c.41693C>G (TTN) NP_597676.3:p.Ala13898Gly
NM_133437.4:c.41894C>G (TTN) NP_597681.4:p.Ala13965Gly
NR_038271.1:n.596+6553G>C (TTN-AS1)
NR_038272.1:n.2044-4570G>C (TTN-AS1)
XM_011511729.1:c.67610C>G (TTN) XP_011510031.1:p.Ala22537Gly
XM_011511730.1:c.41504C>G (TTN) XP_011510032.1:p.Ala13835Gly
XM_011511731.1:c.41363C>G (TTN) XP_011510033.1:p.Ala13788Gly
XM_017004819.1:c.67406C>G (TTN) XP_016860308.1:p.Ala22469Gly
XM_017004820.1:c.62804C>G (TTN) XP_016860309.1:p.Ala20935Gly
XM_017004821.1:c.62801C>G (TTN) XP_016860310.1:p.Ala20934Gly
XM_017004822.1:c.59843C>G (TTN) XP_016860311.1:p.Ala19948Gly
XM_017004823.1:c.41459C>G (TTN) XP_016860312.1:p.Ala13820Gly
XM_024453094.1:c.62954C>G (TTN) XP_024308862.1:p.Ala20985Gly
XM_024453095.1:c.62951C>G (TTN) XP_024308863.1:p.Ala20984Gly
XM_024453096.1:c.62384C>G (TTN) XP_024308864.1:p.Ala20795Gly
XM_024453097.1:c.59726C>G (TTN) XP_024308865.1:p.Ala19909Gly
XM_024453098.1:c.59645C>G (TTN) XP_024308866.1:p.Ala19882Gly
XM_024453099.1:c.41408C>G (TTN) XP_024308867.1:p.Ala13803Gly
XM_024453100.1:c.31262C>G (TTN) XP_024308868.1:p.Ala10421Gly