Canonical Allele Identifier: CA349465228

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178589420G>A , CM000664.2:g.178589420G>A GRCh38
NC_000002.11:g.179454147G>A , CM000664.1:g.179454147G>A GRCh37
NC_000002.10:g.179162393G>A NCBI36
NG_011618.3:g.246383C>T , LRG_391:g.246383C>T
NG_051363.1:g.71594G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.54601C>T (TTN) ENSP00000343764.6:p.Pro18201Ser
ENST00000342175.11:c.35686C>T (TTN) ENSP00000340554.6:p.Pro11896Ser
ENST00000359218.10:c.35485C>T (TTN) ENSP00000352154.5:p.Pro11829Ser
ENST00000342175.10:c.35686C>T (TTN) ENSP00000340554.6:p.Pro11896Ser
ENST00000342992.10:c.54601C>T (TTN) ENSP00000343764.6:p.Pro18201Ser
ENST00000359218.9:c.35485C>T (TTN) ENSP00000352154.5:p.Pro11829Ser
ENST00000460472.6:c.35110C>T (TTN) ENSP00000434586.1:p.Pro11704Ser
ENST00000589042.5:c.62305C>T (TTN) MANE Select ENSP00000467141.1:p.Pro20769Ser
ENST00000591111.5:c.57382C>T (TTN) ENSP00000465570.1:p.Pro19128Ser
ENST00000615779.4:c.57382C>T (TTN) ENSP00000483597.1:p.Pro19128Ser
NM_001256850.1:c.57382C>T (TTN) NP_001243779.1:p.Pro19128Ser
NM_001267550.2:c.62305C>T (TTN) MANE Select NP_001254479.2:p.Pro20769Ser
NM_003319.4:c.35110C>T (TTN) NP_003310.4:p.Pro11704Ser
NM_133378.4:c.54601C>T (TTN) NP_596869.4:p.Pro18201Ser
NM_133432.3:c.35485C>T (TTN) NP_597676.3:p.Pro11829Ser
NM_133437.4:c.35686C>T (TTN) NP_597681.4:p.Pro11896Ser
NR_038271.1:n.597-8176G>A (TTN-AS1)
NR_038272.1:n.3189-1719G>A (TTN-AS1)
XM_011511729.1:c.61402C>T (TTN) XP_011510031.1:p.Pro20468Ser
XM_011511730.1:c.35296C>T (TTN) XP_011510032.1:p.Pro11766Ser
XM_011511731.1:c.35155C>T (TTN) XP_011510033.1:p.Pro11719Ser
XM_017004819.1:c.61198C>T (TTN) XP_016860308.1:p.Pro20400Ser
XM_017004820.1:c.56596C>T (TTN) XP_016860309.1:p.Pro18866Ser
XM_017004821.1:c.56593C>T (TTN) XP_016860310.1:p.Pro18865Ser
XM_017004822.1:c.53635C>T (TTN) XP_016860311.1:p.Pro17879Ser
XM_017004823.1:c.35251C>T (TTN) XP_016860312.1:p.Pro11751Ser
XM_024453094.1:c.56746C>T (TTN) XP_024308862.1:p.Pro18916Ser
XM_024453095.1:c.56743C>T (TTN) XP_024308863.1:p.Pro18915Ser
XM_024453096.1:c.56176C>T (TTN) XP_024308864.1:p.Pro18726Ser
XM_024453097.1:c.53518C>T (TTN) XP_024308865.1:p.Pro17840Ser
XM_024453098.1:c.53437C>T (TTN) XP_024308866.1:p.Pro17813Ser
XM_024453099.1:c.35200C>T (TTN) XP_024308867.1:p.Pro11734Ser
XM_024453100.1:c.25054C>T (TTN) XP_024308868.1:p.Pro8352Ser