Canonical Allele Identifier: CA349481133

Linked Data

dbSNP Id: rs1325560371

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.52916A>G (TTN) ENSP00000343764.6:p.Tyr17639Cys
ENST00000342175.11:c.34001A>G (TTN) ENSP00000340554.6:p.Tyr11334Cys
ENST00000359218.10:c.33800A>G (TTN) ENSP00000352154.5:p.Tyr11267Cys
ENST00000342175.10:c.34001A>G (TTN) ENSP00000340554.6:p.Tyr11334Cys
ENST00000342992.10:c.52916A>G (TTN) ENSP00000343764.6:p.Tyr17639Cys
ENST00000359218.9:c.33800A>G (TTN) ENSP00000352154.5:p.Tyr11267Cys
ENST00000460472.6:c.33425A>G (TTN) ENSP00000434586.1:p.Tyr11142Cys
ENST00000589042.5:c.60620A>G (TTN) MANE Select ENSP00000467141.1:p.Tyr20207Cys
ENST00000591111.5:c.55697A>G (TTN) ENSP00000465570.1:p.Tyr18566Cys
ENST00000615779.4:c.55697A>G (TTN) ENSP00000483597.1:p.Tyr18566Cys
NM_001256850.1:c.55697A>G (TTN) NP_001243779.1:p.Tyr18566Cys
NM_001267550.2:c.60620A>G (TTN) MANE Select NP_001254479.2:p.Tyr20207Cys
NM_003319.4:c.33425A>G (TTN) NP_003310.4:p.Tyr11142Cys
NM_133378.4:c.52916A>G (TTN) NP_596869.4:p.Tyr17639Cys
NM_133432.3:c.33800A>G (TTN) NP_597676.3:p.Tyr11267Cys
NM_133437.4:c.34001A>G (TTN) NP_597681.4:p.Tyr11334Cys
NR_038271.1:n.597-6491T>C (TTN-AS1)
NR_038272.1:n.3189-34T>C (TTN-AS1)
XM_011511729.1:c.59717A>G (TTN) XP_011510031.1:p.Tyr19906Cys
XM_011511730.1:c.33611A>G (TTN) XP_011510032.1:p.Tyr11204Cys
XM_011511731.1:c.33470A>G (TTN) XP_011510033.1:p.Tyr11157Cys
XM_017004819.1:c.59513A>G (TTN) XP_016860308.1:p.Tyr19838Cys
XM_017004820.1:c.54911A>G (TTN) XP_016860309.1:p.Tyr18304Cys
XM_017004821.1:c.54908A>G (TTN) XP_016860310.1:p.Tyr18303Cys
XM_017004822.1:c.51950A>G (TTN) XP_016860311.1:p.Tyr17317Cys
XM_017004823.1:c.33566A>G (TTN) XP_016860312.1:p.Tyr11189Cys
XM_024453094.1:c.55061A>G (TTN) XP_024308862.1:p.Tyr18354Cys
XM_024453095.1:c.55058A>G (TTN) XP_024308863.1:p.Tyr18353Cys
XM_024453096.1:c.54491A>G (TTN) XP_024308864.1:p.Tyr18164Cys
XM_024453097.1:c.51833A>G (TTN) XP_024308865.1:p.Tyr17278Cys
XM_024453098.1:c.51752A>G (TTN) XP_024308866.1:p.Tyr17251Cys
XM_024453099.1:c.33515A>G (TTN) XP_024308867.1:p.Tyr11172Cys
XM_024453100.1:c.23369A>G (TTN) XP_024308868.1:p.Tyr7790Cys