Canonical Allele Identifier: CA349407287

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530630T>A , CM000664.2:g.178530630T>A GRCh38
NC_000002.11:g.179395357T>A , CM000664.1:g.179395357T>A GRCh37
NC_000002.10:g.179103603T>A NCBI36
NG_011618.3:g.305173A>T , LRG_391:g.305173A>T
NG_051363.1:g.12804T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98281A>T (TTN) ENSP00000343764.6:p.Asn32761Tyr
ENST00000342175.11:c.79366A>T (TTN) ENSP00000340554.6:p.Asn26456Tyr
ENST00000359218.10:c.79165A>T (TTN) ENSP00000352154.5:p.Asn26389Tyr
ENST00000342175.10:c.79366A>T (TTN) ENSP00000340554.6:p.Asn26456Tyr
ENST00000342992.10:c.98281A>T (TTN) ENSP00000343764.6:p.Asn32761Tyr
ENST00000359218.9:c.79165A>T (TTN) ENSP00000352154.5:p.Asn26389Tyr
ENST00000460472.6:c.78790A>T (TTN) ENSP00000434586.1:p.Asn26264Tyr
ENST00000589042.5:c.105985A>T (TTN) MANE Select ENSP00000467141.1:p.Asn35329Tyr
ENST00000591111.5:c.101062A>T (TTN) ENSP00000465570.1:p.Asn33688Tyr
ENST00000615779.4:c.101062A>T (TTN) ENSP00000483597.1:p.Asn33688Tyr
NM_001256850.1:c.101062A>T (TTN) NP_001243779.1:p.Asn33688Tyr
NM_001267550.2:c.105985A>T (TTN) MANE Select NP_001254479.2:p.Asn35329Tyr
NM_003319.4:c.78790A>T (TTN) NP_003310.4:p.Asn26264Tyr
NM_133378.4:c.98281A>T (TTN) NP_596869.4:p.Asn32761Tyr
NM_133432.3:c.79165A>T (TTN) NP_597676.3:p.Asn26389Tyr
NM_133437.4:c.79366A>T (TTN) NP_597681.4:p.Asn26456Tyr
NR_038271.1:n.446+6994T>A (TTN-AS1)
NR_038272.1:n.220-5102T>A (TTN-AS1)
XM_011511729.1:c.105082A>T (TTN) XP_011510031.1:p.Asn35028Tyr
XM_011511730.1:c.78976A>T (TTN) XP_011510032.1:p.Asn26326Tyr
XM_011511731.1:c.78835A>T (TTN) XP_011510033.1:p.Asn26279Tyr
XM_017004819.1:c.104878A>T (TTN) XP_016860308.1:p.Asn34960Tyr
XM_017004820.1:c.100276A>T (TTN) XP_016860309.1:p.Asn33426Tyr
XM_017004821.1:c.100273A>T (TTN) XP_016860310.1:p.Asn33425Tyr
XM_017004822.1:c.97315A>T (TTN) XP_016860311.1:p.Asn32439Tyr
XM_017004823.1:c.78931A>T (TTN) XP_016860312.1:p.Asn26311Tyr
XM_024453094.1:c.100426A>T (TTN) XP_024308862.1:p.Asn33476Tyr
XM_024453095.1:c.100423A>T (TTN) XP_024308863.1:p.Asn33475Tyr
XM_024453096.1:c.99856A>T (TTN) XP_024308864.1:p.Asn33286Tyr
XM_024453097.1:c.97198A>T (TTN) XP_024308865.1:p.Asn32400Tyr
XM_024453098.1:c.97117A>T (TTN) XP_024308866.1:p.Asn32373Tyr
XM_024453099.1:c.78880A>T (TTN) XP_024308867.1:p.Asn26294Tyr
XM_024453100.1:c.68734A>T (TTN) XP_024308868.1:p.Asn22912Tyr