Canonical Allele Identifier: CA349450521

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543862T>A , CM000664.2:g.178543862T>A GRCh38
NC_000002.11:g.179408589T>A , CM000664.1:g.179408589T>A GRCh37
NC_000002.10:g.179116835T>A NCBI36
NG_011618.3:g.291941A>T , LRG_391:g.291941A>T
NG_051363.1:g.26036T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88578A>T (TTN) ENSP00000343764.6:p.Lys29526Asn
ENST00000342175.11:c.69663A>T (TTN) ENSP00000340554.6:p.Lys23221Asn
ENST00000359218.10:c.69462A>T (TTN) ENSP00000352154.5:p.Lys23154Asn
ENST00000342175.10:c.69663A>T (TTN) ENSP00000340554.6:p.Lys23221Asn
ENST00000342992.10:c.88578A>T (TTN) ENSP00000343764.6:p.Lys29526Asn
ENST00000359218.9:c.69462A>T (TTN) ENSP00000352154.5:p.Lys23154Asn
ENST00000460472.6:c.69087A>T (TTN) ENSP00000434586.1:p.Lys23029Asn
ENST00000589042.5:c.96282A>T (TTN) MANE Select ENSP00000467141.1:p.Lys32094Asn
ENST00000591111.5:c.91359A>T (TTN) ENSP00000465570.1:p.Lys30453Asn
ENST00000615779.4:c.91359A>T (TTN) ENSP00000483597.1:p.Lys30453Asn
NM_001256850.1:c.91359A>T (TTN) NP_001243779.1:p.Lys30453Asn
NM_001267550.2:c.96282A>T (TTN) MANE Select NP_001254479.2:p.Lys32094Asn
NM_003319.4:c.69087A>T (TTN) NP_003310.4:p.Lys23029Asn
NM_133378.4:c.88578A>T (TTN) NP_596869.4:p.Lys29526Asn
NM_133432.3:c.69462A>T (TTN) NP_597676.3:p.Lys23154Asn
NM_133437.4:c.69663A>T (TTN) NP_597681.4:p.Lys23221Asn
NR_038271.1:n.446+20226T>A (TTN-AS1)
NR_038272.1:n.2043+1501T>A (TTN-AS1)
XM_011511729.1:c.95379A>T (TTN) XP_011510031.1:p.Lys31793Asn
XM_011511730.1:c.69273A>T (TTN) XP_011510032.1:p.Lys23091Asn
XM_011511731.1:c.69132A>T (TTN) XP_011510033.1:p.Lys23044Asn
XM_017004819.1:c.95175A>T (TTN) XP_016860308.1:p.Lys31725Asn
XM_017004820.1:c.90573A>T (TTN) XP_016860309.1:p.Lys30191Asn
XM_017004821.1:c.90570A>T (TTN) XP_016860310.1:p.Lys30190Asn
XM_017004822.1:c.87612A>T (TTN) XP_016860311.1:p.Lys29204Asn
XM_017004823.1:c.69228A>T (TTN) XP_016860312.1:p.Lys23076Asn
XM_024453094.1:c.90723A>T (TTN) XP_024308862.1:p.Lys30241Asn
XM_024453095.1:c.90720A>T (TTN) XP_024308863.1:p.Lys30240Asn
XM_024453096.1:c.90153A>T (TTN) XP_024308864.1:p.Lys30051Asn
XM_024453097.1:c.87495A>T (TTN) XP_024308865.1:p.Lys29165Asn
XM_024453098.1:c.87414A>T (TTN) XP_024308866.1:p.Lys29138Asn
XM_024453099.1:c.69177A>T (TTN) XP_024308867.1:p.Lys23059Asn
XM_024453100.1:c.59031A>T (TTN) XP_024308868.1:p.Lys19677Asn