Canonical Allele Identifier: CA349600551

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.71225C>A (TTN) ENSP00000343764.6:p.Pro23742Gln
ENST00000342175.11:c.52310C>A (TTN) ENSP00000340554.6:p.Pro17437Gln
ENST00000359218.10:c.52109C>A (TTN) ENSP00000352154.5:p.Pro17370Gln
ENST00000342175.10:c.52310C>A (TTN) ENSP00000340554.6:p.Pro17437Gln
ENST00000342992.10:c.71225C>A (TTN) ENSP00000343764.6:p.Pro23742Gln
ENST00000359218.9:c.52109C>A (TTN) ENSP00000352154.5:p.Pro17370Gln
ENST00000460472.6:c.51734C>A (TTN) ENSP00000434586.1:p.Pro17245Gln
ENST00000589042.5:c.78929C>A (TTN) MANE Select ENSP00000467141.1:p.Pro26310Gln
ENST00000591111.5:c.74006C>A (TTN) ENSP00000465570.1:p.Pro24669Gln
ENST00000615779.4:c.74006C>A (TTN) ENSP00000483597.1:p.Pro24669Gln
NM_001256850.1:c.74006C>A (TTN) NP_001243779.1:p.Pro24669Gln
NM_001267550.2:c.78929C>A (TTN) MANE Select NP_001254479.2:p.Pro26310Gln
NM_003319.4:c.51734C>A (TTN) NP_003310.4:p.Pro17245Gln
NM_133378.4:c.71225C>A (TTN) NP_596869.4:p.Pro23742Gln
NM_133432.3:c.52109C>A (TTN) NP_597676.3:p.Pro17370Gln
NM_133437.4:c.52310C>A (TTN) NP_597681.4:p.Pro17437Gln
NR_038271.1:n.447-4097G>T (TTN-AS1)
NR_038272.1:n.2044-15369G>T (TTN-AS1)
XM_011511729.1:c.78026C>A (TTN) XP_011510031.1:p.Pro26009Gln
XM_011511730.1:c.51920C>A (TTN) XP_011510032.1:p.Pro17307Gln
XM_011511731.1:c.51779C>A (TTN) XP_011510033.1:p.Pro17260Gln
XM_017004819.1:c.77822C>A (TTN) XP_016860308.1:p.Pro25941Gln
XM_017004820.1:c.73220C>A (TTN) XP_016860309.1:p.Pro24407Gln
XM_017004821.1:c.73217C>A (TTN) XP_016860310.1:p.Pro24406Gln
XM_017004822.1:c.70259C>A (TTN) XP_016860311.1:p.Pro23420Gln
XM_017004823.1:c.51875C>A (TTN) XP_016860312.1:p.Pro17292Gln
XM_024453094.1:c.73370C>A (TTN) XP_024308862.1:p.Pro24457Gln
XM_024453095.1:c.73367C>A (TTN) XP_024308863.1:p.Pro24456Gln
XM_024453096.1:c.72800C>A (TTN) XP_024308864.1:p.Pro24267Gln
XM_024453097.1:c.70142C>A (TTN) XP_024308865.1:p.Pro23381Gln
XM_024453098.1:c.70061C>A (TTN) XP_024308866.1:p.Pro23354Gln
XM_024453099.1:c.51824C>A (TTN) XP_024308867.1:p.Pro17275Gln
XM_024453100.1:c.41678C>A (TTN) XP_024308868.1:p.Pro13893Gln