Canonical Allele Identifier: CA349407284

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530629T>C , CM000664.2:g.178530629T>C GRCh38
NC_000002.11:g.179395356T>C , CM000664.1:g.179395356T>C GRCh37
NC_000002.10:g.179103602T>C NCBI36
NG_011618.3:g.305174A>G , LRG_391:g.305174A>G
NG_051363.1:g.12803T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98282A>G (TTN) ENSP00000343764.6:p.Asn32761Ser
ENST00000342175.11:c.79367A>G (TTN) ENSP00000340554.6:p.Asn26456Ser
ENST00000359218.10:c.79166A>G (TTN) ENSP00000352154.5:p.Asn26389Ser
ENST00000342175.10:c.79367A>G (TTN) ENSP00000340554.6:p.Asn26456Ser
ENST00000342992.10:c.98282A>G (TTN) ENSP00000343764.6:p.Asn32761Ser
ENST00000359218.9:c.79166A>G (TTN) ENSP00000352154.5:p.Asn26389Ser
ENST00000460472.6:c.78791A>G (TTN) ENSP00000434586.1:p.Asn26264Ser
ENST00000589042.5:c.105986A>G (TTN) MANE Select ENSP00000467141.1:p.Asn35329Ser
ENST00000591111.5:c.101063A>G (TTN) ENSP00000465570.1:p.Asn33688Ser
ENST00000615779.4:c.101063A>G (TTN) ENSP00000483597.1:p.Asn33688Ser
NM_001256850.1:c.101063A>G (TTN) NP_001243779.1:p.Asn33688Ser
NM_001267550.2:c.105986A>G (TTN) MANE Select NP_001254479.2:p.Asn35329Ser
NM_003319.4:c.78791A>G (TTN) NP_003310.4:p.Asn26264Ser
NM_133378.4:c.98282A>G (TTN) NP_596869.4:p.Asn32761Ser
NM_133432.3:c.79166A>G (TTN) NP_597676.3:p.Asn26389Ser
NM_133437.4:c.79367A>G (TTN) NP_597681.4:p.Asn26456Ser
NR_038271.1:n.446+6993T>C (TTN-AS1)
NR_038272.1:n.220-5103T>C (TTN-AS1)
XM_011511729.1:c.105083A>G (TTN) XP_011510031.1:p.Asn35028Ser
XM_011511730.1:c.78977A>G (TTN) XP_011510032.1:p.Asn26326Ser
XM_011511731.1:c.78836A>G (TTN) XP_011510033.1:p.Asn26279Ser
XM_017004819.1:c.104879A>G (TTN) XP_016860308.1:p.Asn34960Ser
XM_017004820.1:c.100277A>G (TTN) XP_016860309.1:p.Asn33426Ser
XM_017004821.1:c.100274A>G (TTN) XP_016860310.1:p.Asn33425Ser
XM_017004822.1:c.97316A>G (TTN) XP_016860311.1:p.Asn32439Ser
XM_017004823.1:c.78932A>G (TTN) XP_016860312.1:p.Asn26311Ser
XM_024453094.1:c.100427A>G (TTN) XP_024308862.1:p.Asn33476Ser
XM_024453095.1:c.100424A>G (TTN) XP_024308863.1:p.Asn33475Ser
XM_024453096.1:c.99857A>G (TTN) XP_024308864.1:p.Asn33286Ser
XM_024453097.1:c.97199A>G (TTN) XP_024308865.1:p.Asn32400Ser
XM_024453098.1:c.97118A>G (TTN) XP_024308866.1:p.Asn32373Ser
XM_024453099.1:c.78881A>G (TTN) XP_024308867.1:p.Asn26294Ser
XM_024453100.1:c.68735A>G (TTN) XP_024308868.1:p.Asn22912Ser