Canonical Allele Identifier: CA349411358

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532030G>A , CM000664.2:g.178532030G>A GRCh38
NC_000002.11:g.179396757G>A , CM000664.1:g.179396757G>A GRCh37
NC_000002.10:g.179105003G>A NCBI36
NG_011618.3:g.303773C>T , LRG_391:g.303773C>T
NG_051363.1:g.14204G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96881C>T (TTN) ENSP00000343764.6:p.Pro32294Leu
ENST00000342175.11:c.77966C>T (TTN) ENSP00000340554.6:p.Pro25989Leu
ENST00000359218.10:c.77765C>T (TTN) ENSP00000352154.5:p.Pro25922Leu
ENST00000342175.10:c.77966C>T (TTN) ENSP00000340554.6:p.Pro25989Leu
ENST00000342992.10:c.96881C>T (TTN) ENSP00000343764.6:p.Pro32294Leu
ENST00000359218.9:c.77765C>T (TTN) ENSP00000352154.5:p.Pro25922Leu
ENST00000460472.6:c.77390C>T (TTN) ENSP00000434586.1:p.Pro25797Leu
ENST00000589042.5:c.104585C>T (TTN) MANE Select ENSP00000467141.1:p.Pro34862Leu
ENST00000591111.5:c.99662C>T (TTN) ENSP00000465570.1:p.Pro33221Leu
ENST00000615779.4:c.99662C>T (TTN) ENSP00000483597.1:p.Pro33221Leu
NM_001256850.1:c.99662C>T (TTN) NP_001243779.1:p.Pro33221Leu
NM_001267550.2:c.104585C>T (TTN) MANE Select NP_001254479.2:p.Pro34862Leu
NM_003319.4:c.77390C>T (TTN) NP_003310.4:p.Pro25797Leu
NM_133378.4:c.96881C>T (TTN) NP_596869.4:p.Pro32294Leu
NM_133432.3:c.77765C>T (TTN) NP_597676.3:p.Pro25922Leu
NM_133437.4:c.77966C>T (TTN) NP_597681.4:p.Pro25989Leu
NR_038271.1:n.446+8394G>A (TTN-AS1)
NR_038272.1:n.220-3702G>A (TTN-AS1)
XM_011511729.1:c.103682C>T (TTN) XP_011510031.1:p.Pro34561Leu
XM_011511730.1:c.77576C>T (TTN) XP_011510032.1:p.Pro25859Leu
XM_011511731.1:c.77435C>T (TTN) XP_011510033.1:p.Pro25812Leu
XM_017004819.1:c.103478C>T (TTN) XP_016860308.1:p.Pro34493Leu
XM_017004820.1:c.98876C>T (TTN) XP_016860309.1:p.Pro32959Leu
XM_017004821.1:c.98873C>T (TTN) XP_016860310.1:p.Pro32958Leu
XM_017004822.1:c.95915C>T (TTN) XP_016860311.1:p.Pro31972Leu
XM_017004823.1:c.77531C>T (TTN) XP_016860312.1:p.Pro25844Leu
XM_024453094.1:c.99026C>T (TTN) XP_024308862.1:p.Pro33009Leu
XM_024453095.1:c.99023C>T (TTN) XP_024308863.1:p.Pro33008Leu
XM_024453096.1:c.98456C>T (TTN) XP_024308864.1:p.Pro32819Leu
XM_024453097.1:c.95798C>T (TTN) XP_024308865.1:p.Pro31933Leu
XM_024453098.1:c.95717C>T (TTN) XP_024308866.1:p.Pro31906Leu
XM_024453099.1:c.77480C>T (TTN) XP_024308867.1:p.Pro25827Leu
XM_024453100.1:c.67334C>T (TTN) XP_024308868.1:p.Pro22445Leu