Canonical Allele Identifier: CA349664709

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178575994T>A , CM000664.2:g.178575994T>A GRCh38
NC_000002.11:g.179440721T>A , CM000664.1:g.179440721T>A GRCh37
NC_000002.10:g.179148967T>A NCBI36
NG_011618.3:g.259809A>T , LRG_391:g.259809A>T
NG_051363.1:g.58168T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.62434A>T (TTN) ENSP00000343764.6:p.Lys20812Ter
ENST00000342175.11:c.43519A>T (TTN) ENSP00000340554.6:p.Lys14507Ter
ENST00000359218.10:c.43318A>T (TTN) ENSP00000352154.5:p.Lys14440Ter
ENST00000342175.10:c.43519A>T (TTN) ENSP00000340554.6:p.Lys14507Ter
ENST00000342992.10:c.62434A>T (TTN) ENSP00000343764.6:p.Lys20812Ter
ENST00000359218.9:c.43318A>T (TTN) ENSP00000352154.5:p.Lys14440Ter
ENST00000460472.6:c.42943A>T (TTN) ENSP00000434586.1:p.Lys14315Ter
ENST00000589042.5:c.70138A>T (TTN) MANE Select ENSP00000467141.1:p.Lys23380Ter
ENST00000591111.5:c.65215A>T (TTN) ENSP00000465570.1:p.Lys21739Ter
ENST00000615779.4:c.65215A>T (TTN) ENSP00000483597.1:p.Lys21739Ter
NM_001256850.1:c.65215A>T (TTN) NP_001243779.1:p.Lys21739Ter
NM_001267550.2:c.70138A>T (TTN) MANE Select NP_001254479.2:p.Lys23380Ter
NM_003319.4:c.42943A>T (TTN) NP_003310.4:p.Lys14315Ter
NM_133378.4:c.62434A>T (TTN) NP_596869.4:p.Lys20812Ter
NM_133432.3:c.43318A>T (TTN) NP_597676.3:p.Lys14440Ter
NM_133437.4:c.43519A>T (TTN) NP_597681.4:p.Lys14507Ter
NR_038271.1:n.596+4545T>A (TTN-AS1)
NR_038272.1:n.2044-6578T>A (TTN-AS1)
XM_011511729.1:c.69235A>T (TTN) XP_011510031.1:p.Lys23079Ter
XM_011511730.1:c.43129A>T (TTN) XP_011510032.1:p.Lys14377Ter
XM_011511731.1:c.42988A>T (TTN) XP_011510033.1:p.Lys14330Ter
XM_017004819.1:c.69031A>T (TTN) XP_016860308.1:p.Lys23011Ter
XM_017004820.1:c.64429A>T (TTN) XP_016860309.1:p.Lys21477Ter
XM_017004821.1:c.64426A>T (TTN) XP_016860310.1:p.Lys21476Ter
XM_017004822.1:c.61468A>T (TTN) XP_016860311.1:p.Lys20490Ter
XM_017004823.1:c.43084A>T (TTN) XP_016860312.1:p.Lys14362Ter
XM_024453094.1:c.64579A>T (TTN) XP_024308862.1:p.Lys21527Ter
XM_024453095.1:c.64576A>T (TTN) XP_024308863.1:p.Lys21526Ter
XM_024453096.1:c.64009A>T (TTN) XP_024308864.1:p.Lys21337Ter
XM_024453097.1:c.61351A>T (TTN) XP_024308865.1:p.Lys20451Ter
XM_024453098.1:c.61270A>T (TTN) XP_024308866.1:p.Lys20424Ter
XM_024453099.1:c.43033A>T (TTN) XP_024308867.1:p.Lys14345Ter
XM_024453100.1:c.32887A>T (TTN) XP_024308868.1:p.Lys10963Ter