Canonical Allele Identifier: CA349600558

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567204G>A , CM000664.2:g.178567204G>A GRCh38
NC_000002.11:g.179431931G>A , CM000664.1:g.179431931G>A GRCh37
NC_000002.10:g.179140177G>A NCBI36
NG_011618.3:g.268599C>T , LRG_391:g.268599C>T
NG_051363.1:g.49378G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.71224C>T (TTN) ENSP00000343764.6:p.Pro23742Ser
ENST00000342175.11:c.52309C>T (TTN) ENSP00000340554.6:p.Pro17437Ser
ENST00000359218.10:c.52108C>T (TTN) ENSP00000352154.5:p.Pro17370Ser
ENST00000342175.10:c.52309C>T (TTN) ENSP00000340554.6:p.Pro17437Ser
ENST00000342992.10:c.71224C>T (TTN) ENSP00000343764.6:p.Pro23742Ser
ENST00000359218.9:c.52108C>T (TTN) ENSP00000352154.5:p.Pro17370Ser
ENST00000460472.6:c.51733C>T (TTN) ENSP00000434586.1:p.Pro17245Ser
ENST00000589042.5:c.78928C>T (TTN) MANE Select ENSP00000467141.1:p.Pro26310Ser
ENST00000591111.5:c.74005C>T (TTN) ENSP00000465570.1:p.Pro24669Ser
ENST00000615779.4:c.74005C>T (TTN) ENSP00000483597.1:p.Pro24669Ser
NM_001256850.1:c.74005C>T (TTN) NP_001243779.1:p.Pro24669Ser
NM_001267550.2:c.78928C>T (TTN) MANE Select NP_001254479.2:p.Pro26310Ser
NM_003319.4:c.51733C>T (TTN) NP_003310.4:p.Pro17245Ser
NM_133378.4:c.71224C>T (TTN) NP_596869.4:p.Pro23742Ser
NM_133432.3:c.52108C>T (TTN) NP_597676.3:p.Pro17370Ser
NM_133437.4:c.52309C>T (TTN) NP_597681.4:p.Pro17437Ser
NR_038271.1:n.447-4096G>A (TTN-AS1)
NR_038272.1:n.2044-15368G>A (TTN-AS1)
XM_011511729.1:c.78025C>T (TTN) XP_011510031.1:p.Pro26009Ser
XM_011511730.1:c.51919C>T (TTN) XP_011510032.1:p.Pro17307Ser
XM_011511731.1:c.51778C>T (TTN) XP_011510033.1:p.Pro17260Ser
XM_017004819.1:c.77821C>T (TTN) XP_016860308.1:p.Pro25941Ser
XM_017004820.1:c.73219C>T (TTN) XP_016860309.1:p.Pro24407Ser
XM_017004821.1:c.73216C>T (TTN) XP_016860310.1:p.Pro24406Ser
XM_017004822.1:c.70258C>T (TTN) XP_016860311.1:p.Pro23420Ser
XM_017004823.1:c.51874C>T (TTN) XP_016860312.1:p.Pro17292Ser
XM_024453094.1:c.73369C>T (TTN) XP_024308862.1:p.Pro24457Ser
XM_024453095.1:c.73366C>T (TTN) XP_024308863.1:p.Pro24456Ser
XM_024453096.1:c.72799C>T (TTN) XP_024308864.1:p.Pro24267Ser
XM_024453097.1:c.70141C>T (TTN) XP_024308865.1:p.Pro23381Ser
XM_024453098.1:c.70060C>T (TTN) XP_024308866.1:p.Pro23354Ser
XM_024453099.1:c.51823C>T (TTN) XP_024308867.1:p.Pro17275Ser
XM_024453100.1:c.41677C>T (TTN) XP_024308868.1:p.Pro13893Ser