Canonical Allele Identifier: CA349454161

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544085A>G , CM000664.2:g.178544085A>G GRCh38
NC_000002.11:g.179408812A>G , CM000664.1:g.179408812A>G GRCh37
NC_000002.10:g.179117058A>G NCBI36
NG_011618.3:g.291718T>C , LRG_391:g.291718T>C
NG_051363.1:g.26259A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88355T>C (TTN) ENSP00000343764.6:p.Leu29452Pro
ENST00000342175.11:c.69440T>C (TTN) ENSP00000340554.6:p.Leu23147Pro
ENST00000359218.10:c.69239T>C (TTN) ENSP00000352154.5:p.Leu23080Pro
ENST00000342175.10:c.69440T>C (TTN) ENSP00000340554.6:p.Leu23147Pro
ENST00000342992.10:c.88355T>C (TTN) ENSP00000343764.6:p.Leu29452Pro
ENST00000359218.9:c.69239T>C (TTN) ENSP00000352154.5:p.Leu23080Pro
ENST00000460472.6:c.68864T>C (TTN) ENSP00000434586.1:p.Leu22955Pro
ENST00000589042.5:c.96059T>C (TTN) MANE Select ENSP00000467141.1:p.Leu32020Pro
ENST00000591111.5:c.91136T>C (TTN) ENSP00000465570.1:p.Leu30379Pro
ENST00000615779.4:c.91136T>C (TTN) ENSP00000483597.1:p.Leu30379Pro
NM_001256850.1:c.91136T>C (TTN) NP_001243779.1:p.Leu30379Pro
NM_001267550.2:c.96059T>C (TTN) MANE Select NP_001254479.2:p.Leu32020Pro
NM_003319.4:c.68864T>C (TTN) NP_003310.4:p.Leu22955Pro
NM_133378.4:c.88355T>C (TTN) NP_596869.4:p.Leu29452Pro
NM_133432.3:c.69239T>C (TTN) NP_597676.3:p.Leu23080Pro
NM_133437.4:c.69440T>C (TTN) NP_597681.4:p.Leu23147Pro
NR_038271.1:n.446+20449A>G (TTN-AS1)
NR_038272.1:n.2043+1724A>G (TTN-AS1)
XM_011511729.1:c.95156T>C (TTN) XP_011510031.1:p.Leu31719Pro
XM_011511730.1:c.69050T>C (TTN) XP_011510032.1:p.Leu23017Pro
XM_011511731.1:c.68909T>C (TTN) XP_011510033.1:p.Leu22970Pro
XM_017004819.1:c.94952T>C (TTN) XP_016860308.1:p.Leu31651Pro
XM_017004820.1:c.90350T>C (TTN) XP_016860309.1:p.Leu30117Pro
XM_017004821.1:c.90347T>C (TTN) XP_016860310.1:p.Leu30116Pro
XM_017004822.1:c.87389T>C (TTN) XP_016860311.1:p.Leu29130Pro
XM_017004823.1:c.69005T>C (TTN) XP_016860312.1:p.Leu23002Pro
XM_024453094.1:c.90500T>C (TTN) XP_024308862.1:p.Leu30167Pro
XM_024453095.1:c.90497T>C (TTN) XP_024308863.1:p.Leu30166Pro
XM_024453096.1:c.89930T>C (TTN) XP_024308864.1:p.Leu29977Pro
XM_024453097.1:c.87272T>C (TTN) XP_024308865.1:p.Leu29091Pro
XM_024453098.1:c.87191T>C (TTN) XP_024308866.1:p.Leu29064Pro
XM_024453099.1:c.68954T>C (TTN) XP_024308867.1:p.Leu22985Pro
XM_024453100.1:c.58808T>C (TTN) XP_024308868.1:p.Leu19603Pro