Canonical Allele Identifier: CA349425390

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178536165T>A , CM000664.2:g.178536165T>A GRCh38
NC_000002.11:g.179400892T>A , CM000664.1:g.179400892T>A GRCh37
NC_000002.10:g.179109138T>A NCBI36
NG_011618.3:g.299638A>T , LRG_391:g.299638A>T
NG_051363.1:g.18339T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.92878A>T (TTN) ENSP00000343764.6:p.Lys30960Ter
ENST00000342175.11:c.73963A>T (TTN) ENSP00000340554.6:p.Lys24655Ter
ENST00000359218.10:c.73762A>T (TTN) ENSP00000352154.5:p.Lys24588Ter
ENST00000342175.10:c.73963A>T (TTN) ENSP00000340554.6:p.Lys24655Ter
ENST00000342992.10:c.92878A>T (TTN) ENSP00000343764.6:p.Lys30960Ter
ENST00000359218.9:c.73762A>T (TTN) ENSP00000352154.5:p.Lys24588Ter
ENST00000460472.6:c.73387A>T (TTN) ENSP00000434586.1:p.Lys24463Ter
ENST00000589042.5:c.100582A>T (TTN) MANE Select ENSP00000467141.1:p.Lys33528Ter
ENST00000591111.5:c.95659A>T (TTN) ENSP00000465570.1:p.Lys31887Ter
ENST00000615779.4:c.95659A>T (TTN) ENSP00000483597.1:p.Lys31887Ter
NM_001256850.1:c.95659A>T (TTN) NP_001243779.1:p.Lys31887Ter
NM_001267550.2:c.100582A>T (TTN) MANE Select NP_001254479.2:p.Lys33528Ter
NM_003319.4:c.73387A>T (TTN) NP_003310.4:p.Lys24463Ter
NM_133378.4:c.92878A>T (TTN) NP_596869.4:p.Lys30960Ter
NM_133432.3:c.73762A>T (TTN) NP_597676.3:p.Lys24588Ter
NM_133437.4:c.73963A>T (TTN) NP_597681.4:p.Lys24655Ter
NR_038271.1:n.446+12529T>A (TTN-AS1)
NR_038272.1:n.316+337T>A (TTN-AS1)
XM_011511729.1:c.99679A>T (TTN) XP_011510031.1:p.Lys33227Ter
XM_011511730.1:c.73573A>T (TTN) XP_011510032.1:p.Lys24525Ter
XM_011511731.1:c.73432A>T (TTN) XP_011510033.1:p.Lys24478Ter
XM_017004819.1:c.99475A>T (TTN) XP_016860308.1:p.Lys33159Ter
XM_017004820.1:c.94873A>T (TTN) XP_016860309.1:p.Lys31625Ter
XM_017004821.1:c.94870A>T (TTN) XP_016860310.1:p.Lys31624Ter
XM_017004822.1:c.91912A>T (TTN) XP_016860311.1:p.Lys30638Ter
XM_017004823.1:c.73528A>T (TTN) XP_016860312.1:p.Lys24510Ter
XM_024453094.1:c.95023A>T (TTN) XP_024308862.1:p.Lys31675Ter
XM_024453095.1:c.95020A>T (TTN) XP_024308863.1:p.Lys31674Ter
XM_024453096.1:c.94453A>T (TTN) XP_024308864.1:p.Lys31485Ter
XM_024453097.1:c.91795A>T (TTN) XP_024308865.1:p.Lys30599Ter
XM_024453098.1:c.91714A>T (TTN) XP_024308866.1:p.Lys30572Ter
XM_024453099.1:c.73477A>T (TTN) XP_024308867.1:p.Lys24493Ter
XM_024453100.1:c.63331A>T (TTN) XP_024308868.1:p.Lys21111Ter