Canonical Allele Identifier: CA349454467

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544109G>T , CM000664.2:g.178544109G>T GRCh38
NC_000002.11:g.179408836G>T , CM000664.1:g.179408836G>T GRCh37
NC_000002.10:g.179117082G>T NCBI36
NG_011618.3:g.291694C>A , LRG_391:g.291694C>A
NG_051363.1:g.26283G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88331C>A (TTN) ENSP00000343764.6:p.Pro29444Gln
ENST00000342175.11:c.69416C>A (TTN) ENSP00000340554.6:p.Pro23139Gln
ENST00000359218.10:c.69215C>A (TTN) ENSP00000352154.5:p.Pro23072Gln
ENST00000342175.10:c.69416C>A (TTN) ENSP00000340554.6:p.Pro23139Gln
ENST00000342992.10:c.88331C>A (TTN) ENSP00000343764.6:p.Pro29444Gln
ENST00000359218.9:c.69215C>A (TTN) ENSP00000352154.5:p.Pro23072Gln
ENST00000460472.6:c.68840C>A (TTN) ENSP00000434586.1:p.Pro22947Gln
ENST00000589042.5:c.96035C>A (TTN) MANE Select ENSP00000467141.1:p.Pro32012Gln
ENST00000591111.5:c.91112C>A (TTN) ENSP00000465570.1:p.Pro30371Gln
ENST00000615779.4:c.91112C>A (TTN) ENSP00000483597.1:p.Pro30371Gln
NM_001256850.1:c.91112C>A (TTN) NP_001243779.1:p.Pro30371Gln
NM_001267550.2:c.96035C>A (TTN) MANE Select NP_001254479.2:p.Pro32012Gln
NM_003319.4:c.68840C>A (TTN) NP_003310.4:p.Pro22947Gln
NM_133378.4:c.88331C>A (TTN) NP_596869.4:p.Pro29444Gln
NM_133432.3:c.69215C>A (TTN) NP_597676.3:p.Pro23072Gln
NM_133437.4:c.69416C>A (TTN) NP_597681.4:p.Pro23139Gln
NR_038271.1:n.446+20473G>T (TTN-AS1)
NR_038272.1:n.2043+1748G>T (TTN-AS1)
XM_011511729.1:c.95132C>A (TTN) XP_011510031.1:p.Pro31711Gln
XM_011511730.1:c.69026C>A (TTN) XP_011510032.1:p.Pro23009Gln
XM_011511731.1:c.68885C>A (TTN) XP_011510033.1:p.Pro22962Gln
XM_017004819.1:c.94928C>A (TTN) XP_016860308.1:p.Pro31643Gln
XM_017004820.1:c.90326C>A (TTN) XP_016860309.1:p.Pro30109Gln
XM_017004821.1:c.90323C>A (TTN) XP_016860310.1:p.Pro30108Gln
XM_017004822.1:c.87365C>A (TTN) XP_016860311.1:p.Pro29122Gln
XM_017004823.1:c.68981C>A (TTN) XP_016860312.1:p.Pro22994Gln
XM_024453094.1:c.90476C>A (TTN) XP_024308862.1:p.Pro30159Gln
XM_024453095.1:c.90473C>A (TTN) XP_024308863.1:p.Pro30158Gln
XM_024453096.1:c.89906C>A (TTN) XP_024308864.1:p.Pro29969Gln
XM_024453097.1:c.87248C>A (TTN) XP_024308865.1:p.Pro29083Gln
XM_024453098.1:c.87167C>A (TTN) XP_024308866.1:p.Pro29056Gln
XM_024453099.1:c.68930C>A (TTN) XP_024308867.1:p.Pro22977Gln
XM_024453100.1:c.58784C>A (TTN) XP_024308868.1:p.Pro19595Gln