Canonical Allele Identifier: CA349481135

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591105T>G , CM000664.2:g.178591105T>G GRCh38
NC_000002.11:g.179455832T>G , CM000664.1:g.179455832T>G GRCh37
NC_000002.10:g.179164078T>G NCBI36
NG_011618.3:g.244698A>C , LRG_391:g.244698A>C
NG_051363.1:g.73279T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.52916A>C (TTN) ENSP00000343764.6:p.Tyr17639Ser
ENST00000342175.11:c.34001A>C (TTN) ENSP00000340554.6:p.Tyr11334Ser
ENST00000359218.10:c.33800A>C (TTN) ENSP00000352154.5:p.Tyr11267Ser
ENST00000342175.10:c.34001A>C (TTN) ENSP00000340554.6:p.Tyr11334Ser
ENST00000342992.10:c.52916A>C (TTN) ENSP00000343764.6:p.Tyr17639Ser
ENST00000359218.9:c.33800A>C (TTN) ENSP00000352154.5:p.Tyr11267Ser
ENST00000460472.6:c.33425A>C (TTN) ENSP00000434586.1:p.Tyr11142Ser
ENST00000589042.5:c.60620A>C (TTN) MANE Select ENSP00000467141.1:p.Tyr20207Ser
ENST00000591111.5:c.55697A>C (TTN) ENSP00000465570.1:p.Tyr18566Ser
ENST00000615779.4:c.55697A>C (TTN) ENSP00000483597.1:p.Tyr18566Ser
NM_001256850.1:c.55697A>C (TTN) NP_001243779.1:p.Tyr18566Ser
NM_001267550.2:c.60620A>C (TTN) MANE Select NP_001254479.2:p.Tyr20207Ser
NM_003319.4:c.33425A>C (TTN) NP_003310.4:p.Tyr11142Ser
NM_133378.4:c.52916A>C (TTN) NP_596869.4:p.Tyr17639Ser
NM_133432.3:c.33800A>C (TTN) NP_597676.3:p.Tyr11267Ser
NM_133437.4:c.34001A>C (TTN) NP_597681.4:p.Tyr11334Ser
NR_038271.1:n.597-6491T>G (TTN-AS1)
NR_038272.1:n.3189-34T>G (TTN-AS1)
XM_011511729.1:c.59717A>C (TTN) XP_011510031.1:p.Tyr19906Ser
XM_011511730.1:c.33611A>C (TTN) XP_011510032.1:p.Tyr11204Ser
XM_011511731.1:c.33470A>C (TTN) XP_011510033.1:p.Tyr11157Ser
XM_017004819.1:c.59513A>C (TTN) XP_016860308.1:p.Tyr19838Ser
XM_017004820.1:c.54911A>C (TTN) XP_016860309.1:p.Tyr18304Ser
XM_017004821.1:c.54908A>C (TTN) XP_016860310.1:p.Tyr18303Ser
XM_017004822.1:c.51950A>C (TTN) XP_016860311.1:p.Tyr17317Ser
XM_017004823.1:c.33566A>C (TTN) XP_016860312.1:p.Tyr11189Ser
XM_024453094.1:c.55061A>C (TTN) XP_024308862.1:p.Tyr18354Ser
XM_024453095.1:c.55058A>C (TTN) XP_024308863.1:p.Tyr18353Ser
XM_024453096.1:c.54491A>C (TTN) XP_024308864.1:p.Tyr18164Ser
XM_024453097.1:c.51833A>C (TTN) XP_024308865.1:p.Tyr17278Ser
XM_024453098.1:c.51752A>C (TTN) XP_024308866.1:p.Tyr17251Ser
XM_024453099.1:c.33515A>C (TTN) XP_024308867.1:p.Tyr11172Ser
XM_024453100.1:c.23369A>C (TTN) XP_024308868.1:p.Tyr7790Ser