Canonical Allele Identifier: CA349407295

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530633C>A , CM000664.2:g.178530633C>A GRCh38
NC_000002.11:g.179395360C>A , CM000664.1:g.179395360C>A GRCh37
NC_000002.10:g.179103606C>A NCBI36
NG_011618.3:g.305170G>T , LRG_391:g.305170G>T
NG_051363.1:g.12807C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98278G>T (TTN) ENSP00000343764.6:p.Glu32760Ter
ENST00000342175.11:c.79363G>T (TTN) ENSP00000340554.6:p.Glu26455Ter
ENST00000359218.10:c.79162G>T (TTN) ENSP00000352154.5:p.Glu26388Ter
ENST00000342175.10:c.79363G>T (TTN) ENSP00000340554.6:p.Glu26455Ter
ENST00000342992.10:c.98278G>T (TTN) ENSP00000343764.6:p.Glu32760Ter
ENST00000359218.9:c.79162G>T (TTN) ENSP00000352154.5:p.Glu26388Ter
ENST00000460472.6:c.78787G>T (TTN) ENSP00000434586.1:p.Glu26263Ter
ENST00000589042.5:c.105982G>T (TTN) MANE Select ENSP00000467141.1:p.Glu35328Ter
ENST00000591111.5:c.101059G>T (TTN) ENSP00000465570.1:p.Glu33687Ter
ENST00000615779.4:c.101059G>T (TTN) ENSP00000483597.1:p.Glu33687Ter
NM_001256850.1:c.101059G>T (TTN) NP_001243779.1:p.Glu33687Ter
NM_001267550.2:c.105982G>T (TTN) MANE Select NP_001254479.2:p.Glu35328Ter
NM_003319.4:c.78787G>T (TTN) NP_003310.4:p.Glu26263Ter
NM_133378.4:c.98278G>T (TTN) NP_596869.4:p.Glu32760Ter
NM_133432.3:c.79162G>T (TTN) NP_597676.3:p.Glu26388Ter
NM_133437.4:c.79363G>T (TTN) NP_597681.4:p.Glu26455Ter
NR_038271.1:n.446+6997C>A (TTN-AS1)
NR_038272.1:n.220-5099C>A (TTN-AS1)
XM_011511729.1:c.105079G>T (TTN) XP_011510031.1:p.Glu35027Ter
XM_011511730.1:c.78973G>T (TTN) XP_011510032.1:p.Glu26325Ter
XM_011511731.1:c.78832G>T (TTN) XP_011510033.1:p.Glu26278Ter
XM_017004819.1:c.104875G>T (TTN) XP_016860308.1:p.Glu34959Ter
XM_017004820.1:c.100273G>T (TTN) XP_016860309.1:p.Glu33425Ter
XM_017004821.1:c.100270G>T (TTN) XP_016860310.1:p.Glu33424Ter
XM_017004822.1:c.97312G>T (TTN) XP_016860311.1:p.Glu32438Ter
XM_017004823.1:c.78928G>T (TTN) XP_016860312.1:p.Glu26310Ter
XM_024453094.1:c.100423G>T (TTN) XP_024308862.1:p.Glu33475Ter
XM_024453095.1:c.100420G>T (TTN) XP_024308863.1:p.Glu33474Ter
XM_024453096.1:c.99853G>T (TTN) XP_024308864.1:p.Glu33285Ter
XM_024453097.1:c.97195G>T (TTN) XP_024308865.1:p.Glu32399Ter
XM_024453098.1:c.97114G>T (TTN) XP_024308866.1:p.Glu32372Ter
XM_024453099.1:c.78877G>T (TTN) XP_024308867.1:p.Glu26293Ter
XM_024453100.1:c.68731G>T (TTN) XP_024308868.1:p.Glu22911Ter