Canonical Allele Identifier: CA349411807

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532212C>A , CM000664.2:g.178532212C>A GRCh38
NC_000002.11:g.179396939C>A , CM000664.1:g.179396939C>A GRCh37
NC_000002.10:g.179105185C>A NCBI36
NG_011618.3:g.303591G>T , LRG_391:g.303591G>T
NG_051363.1:g.14386C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96699G>T (TTN) ENSP00000343764.6:p.Lys32233Asn
ENST00000342175.11:c.77784G>T (TTN) ENSP00000340554.6:p.Lys25928Asn
ENST00000359218.10:c.77583G>T (TTN) ENSP00000352154.5:p.Lys25861Asn
ENST00000342175.10:c.77784G>T (TTN) ENSP00000340554.6:p.Lys25928Asn
ENST00000342992.10:c.96699G>T (TTN) ENSP00000343764.6:p.Lys32233Asn
ENST00000359218.9:c.77583G>T (TTN) ENSP00000352154.5:p.Lys25861Asn
ENST00000460472.6:c.77208G>T (TTN) ENSP00000434586.1:p.Lys25736Asn
ENST00000589042.5:c.104403G>T (TTN) MANE Select ENSP00000467141.1:p.Lys34801Asn
ENST00000591111.5:c.99480G>T (TTN) ENSP00000465570.1:p.Lys33160Asn
ENST00000615779.4:c.99480G>T (TTN) ENSP00000483597.1:p.Lys33160Asn
NM_001256850.1:c.99480G>T (TTN) NP_001243779.1:p.Lys33160Asn
NM_001267550.2:c.104403G>T (TTN) MANE Select NP_001254479.2:p.Lys34801Asn
NM_003319.4:c.77208G>T (TTN) NP_003310.4:p.Lys25736Asn
NM_133378.4:c.96699G>T (TTN) NP_596869.4:p.Lys32233Asn
NM_133432.3:c.77583G>T (TTN) NP_597676.3:p.Lys25861Asn
NM_133437.4:c.77784G>T (TTN) NP_597681.4:p.Lys25928Asn
NR_038271.1:n.446+8576C>A (TTN-AS1)
NR_038272.1:n.220-3520C>A (TTN-AS1)
XM_011511729.1:c.103500G>T (TTN) XP_011510031.1:p.Lys34500Asn
XM_011511730.1:c.77394G>T (TTN) XP_011510032.1:p.Lys25798Asn
XM_011511731.1:c.77253G>T (TTN) XP_011510033.1:p.Lys25751Asn
XM_017004819.1:c.103296G>T (TTN) XP_016860308.1:p.Lys34432Asn
XM_017004820.1:c.98694G>T (TTN) XP_016860309.1:p.Lys32898Asn
XM_017004821.1:c.98691G>T (TTN) XP_016860310.1:p.Lys32897Asn
XM_017004822.1:c.95733G>T (TTN) XP_016860311.1:p.Lys31911Asn
XM_017004823.1:c.77349G>T (TTN) XP_016860312.1:p.Lys25783Asn
XM_024453094.1:c.98844G>T (TTN) XP_024308862.1:p.Lys32948Asn
XM_024453095.1:c.98841G>T (TTN) XP_024308863.1:p.Lys32947Asn
XM_024453096.1:c.98274G>T (TTN) XP_024308864.1:p.Lys32758Asn
XM_024453097.1:c.95616G>T (TTN) XP_024308865.1:p.Lys31872Asn
XM_024453098.1:c.95535G>T (TTN) XP_024308866.1:p.Lys31845Asn
XM_024453099.1:c.77298G>T (TTN) XP_024308867.1:p.Lys25766Asn
XM_024453100.1:c.67152G>T (TTN) XP_024308868.1:p.Lys22384Asn