Canonical Allele Identifier: CA349600555

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567203G>C , CM000664.2:g.178567203G>C GRCh38
NC_000002.11:g.179431930G>C , CM000664.1:g.179431930G>C GRCh37
NC_000002.10:g.179140176G>C NCBI36
NG_011618.3:g.268600C>G , LRG_391:g.268600C>G
NG_051363.1:g.49377G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.71225C>G (TTN) ENSP00000343764.6:p.Pro23742Arg
ENST00000342175.11:c.52310C>G (TTN) ENSP00000340554.6:p.Pro17437Arg
ENST00000359218.10:c.52109C>G (TTN) ENSP00000352154.5:p.Pro17370Arg
ENST00000342175.10:c.52310C>G (TTN) ENSP00000340554.6:p.Pro17437Arg
ENST00000342992.10:c.71225C>G (TTN) ENSP00000343764.6:p.Pro23742Arg
ENST00000359218.9:c.52109C>G (TTN) ENSP00000352154.5:p.Pro17370Arg
ENST00000460472.6:c.51734C>G (TTN) ENSP00000434586.1:p.Pro17245Arg
ENST00000589042.5:c.78929C>G (TTN) MANE Select ENSP00000467141.1:p.Pro26310Arg
ENST00000591111.5:c.74006C>G (TTN) ENSP00000465570.1:p.Pro24669Arg
ENST00000615779.4:c.74006C>G (TTN) ENSP00000483597.1:p.Pro24669Arg
NM_001256850.1:c.74006C>G (TTN) NP_001243779.1:p.Pro24669Arg
NM_001267550.2:c.78929C>G (TTN) MANE Select NP_001254479.2:p.Pro26310Arg
NM_003319.4:c.51734C>G (TTN) NP_003310.4:p.Pro17245Arg
NM_133378.4:c.71225C>G (TTN) NP_596869.4:p.Pro23742Arg
NM_133432.3:c.52109C>G (TTN) NP_597676.3:p.Pro17370Arg
NM_133437.4:c.52310C>G (TTN) NP_597681.4:p.Pro17437Arg
NR_038271.1:n.447-4097G>C (TTN-AS1)
NR_038272.1:n.2044-15369G>C (TTN-AS1)
XM_011511729.1:c.78026C>G (TTN) XP_011510031.1:p.Pro26009Arg
XM_011511730.1:c.51920C>G (TTN) XP_011510032.1:p.Pro17307Arg
XM_011511731.1:c.51779C>G (TTN) XP_011510033.1:p.Pro17260Arg
XM_017004819.1:c.77822C>G (TTN) XP_016860308.1:p.Pro25941Arg
XM_017004820.1:c.73220C>G (TTN) XP_016860309.1:p.Pro24407Arg
XM_017004821.1:c.73217C>G (TTN) XP_016860310.1:p.Pro24406Arg
XM_017004822.1:c.70259C>G (TTN) XP_016860311.1:p.Pro23420Arg
XM_017004823.1:c.51875C>G (TTN) XP_016860312.1:p.Pro17292Arg
XM_024453094.1:c.73370C>G (TTN) XP_024308862.1:p.Pro24457Arg
XM_024453095.1:c.73367C>G (TTN) XP_024308863.1:p.Pro24456Arg
XM_024453096.1:c.72800C>G (TTN) XP_024308864.1:p.Pro24267Arg
XM_024453097.1:c.70142C>G (TTN) XP_024308865.1:p.Pro23381Arg
XM_024453098.1:c.70061C>G (TTN) XP_024308866.1:p.Pro23354Arg
XM_024453099.1:c.51824C>G (TTN) XP_024308867.1:p.Pro17275Arg
XM_024453100.1:c.41678C>G (TTN) XP_024308868.1:p.Pro13893Arg