Canonical Allele Identifier: CA349479999

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591009C>G , CM000664.2:g.178591009C>G GRCh38
NC_000002.11:g.179455736C>G , CM000664.1:g.179455736C>G GRCh37
NC_000002.10:g.179163982C>G NCBI36
NG_011618.3:g.244794G>C , LRG_391:g.244794G>C
NG_051363.1:g.73183C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.53012G>C (TTN) ENSP00000343764.6:p.Gly17671Ala
ENST00000342175.11:c.34097G>C (TTN) ENSP00000340554.6:p.Gly11366Ala
ENST00000359218.10:c.33896G>C (TTN) ENSP00000352154.5:p.Gly11299Ala
ENST00000342175.10:c.34097G>C (TTN) ENSP00000340554.6:p.Gly11366Ala
ENST00000342992.10:c.53012G>C (TTN) ENSP00000343764.6:p.Gly17671Ala
ENST00000359218.9:c.33896G>C (TTN) ENSP00000352154.5:p.Gly11299Ala
ENST00000460472.6:c.33521G>C (TTN) ENSP00000434586.1:p.Gly11174Ala
ENST00000589042.5:c.60716G>C (TTN) MANE Select ENSP00000467141.1:p.Gly20239Ala
ENST00000591111.5:c.55793G>C (TTN) ENSP00000465570.1:p.Gly18598Ala
ENST00000615779.4:c.55793G>C (TTN) ENSP00000483597.1:p.Gly18598Ala
NM_001256850.1:c.55793G>C (TTN) NP_001243779.1:p.Gly18598Ala
NM_001267550.2:c.60716G>C (TTN) MANE Select NP_001254479.2:p.Gly20239Ala
NM_003319.4:c.33521G>C (TTN) NP_003310.4:p.Gly11174Ala
NM_133378.4:c.53012G>C (TTN) NP_596869.4:p.Gly17671Ala
NM_133432.3:c.33896G>C (TTN) NP_597676.3:p.Gly11299Ala
NM_133437.4:c.34097G>C (TTN) NP_597681.4:p.Gly11366Ala
NR_038271.1:n.597-6587C>G (TTN-AS1)
NR_038272.1:n.3189-130C>G (TTN-AS1)
XM_011511729.1:c.59813G>C (TTN) XP_011510031.1:p.Gly19938Ala
XM_011511730.1:c.33707G>C (TTN) XP_011510032.1:p.Gly11236Ala
XM_011511731.1:c.33566G>C (TTN) XP_011510033.1:p.Gly11189Ala
XM_017004819.1:c.59609G>C (TTN) XP_016860308.1:p.Gly19870Ala
XM_017004820.1:c.55007G>C (TTN) XP_016860309.1:p.Gly18336Ala
XM_017004821.1:c.55004G>C (TTN) XP_016860310.1:p.Gly18335Ala
XM_017004822.1:c.52046G>C (TTN) XP_016860311.1:p.Gly17349Ala
XM_017004823.1:c.33662G>C (TTN) XP_016860312.1:p.Gly11221Ala
XM_024453094.1:c.55157G>C (TTN) XP_024308862.1:p.Gly18386Ala
XM_024453095.1:c.55154G>C (TTN) XP_024308863.1:p.Gly18385Ala
XM_024453096.1:c.54587G>C (TTN) XP_024308864.1:p.Gly18196Ala
XM_024453097.1:c.51929G>C (TTN) XP_024308865.1:p.Gly17310Ala
XM_024453098.1:c.51848G>C (TTN) XP_024308866.1:p.Gly17283Ala
XM_024453099.1:c.33611G>C (TTN) XP_024308867.1:p.Gly11204Ala
XM_024453100.1:c.23465G>C (TTN) XP_024308868.1:p.Gly7822Ala