Canonical Allele Identifier: CA349427911

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537626G>C , CM000664.2:g.178537626G>C GRCh38
NC_000002.11:g.179402353G>C , CM000664.1:g.179402353G>C GRCh37
NC_000002.10:g.179110599G>C NCBI36
NG_011618.3:g.298177C>G , LRG_391:g.298177C>G
NG_051363.1:g.19800G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.91877C>G (TTN) ENSP00000343764.6:p.Pro30626Arg
ENST00000342175.11:c.72962C>G (TTN) ENSP00000340554.6:p.Pro24321Arg
ENST00000359218.10:c.72761C>G (TTN) ENSP00000352154.5:p.Pro24254Arg
ENST00000342175.10:c.72962C>G (TTN) ENSP00000340554.6:p.Pro24321Arg
ENST00000342992.10:c.91877C>G (TTN) ENSP00000343764.6:p.Pro30626Arg
ENST00000359218.9:c.72761C>G (TTN) ENSP00000352154.5:p.Pro24254Arg
ENST00000460472.6:c.72386C>G (TTN) ENSP00000434586.1:p.Pro24129Arg
ENST00000589042.5:c.99581C>G (TTN) MANE Select ENSP00000467141.1:p.Pro33194Arg
ENST00000591111.5:c.94658C>G (TTN) ENSP00000465570.1:p.Pro31553Arg
ENST00000615779.4:c.94658C>G (TTN) ENSP00000483597.1:p.Pro31553Arg
NM_001256850.1:c.94658C>G (TTN) NP_001243779.1:p.Pro31553Arg
NM_001267550.2:c.99581C>G (TTN) MANE Select NP_001254479.2:p.Pro33194Arg
NM_003319.4:c.72386C>G (TTN) NP_003310.4:p.Pro24129Arg
NM_133378.4:c.91877C>G (TTN) NP_596869.4:p.Pro30626Arg
NM_133432.3:c.72761C>G (TTN) NP_597676.3:p.Pro24254Arg
NM_133437.4:c.72962C>G (TTN) NP_597681.4:p.Pro24321Arg
NR_038271.1:n.446+13990G>C (TTN-AS1)
NR_038272.1:n.582G>C (TTN-AS1)
XM_011511729.1:c.98678C>G (TTN) XP_011510031.1:p.Pro32893Arg
XM_011511730.1:c.72572C>G (TTN) XP_011510032.1:p.Pro24191Arg
XM_011511731.1:c.72431C>G (TTN) XP_011510033.1:p.Pro24144Arg
XM_017004819.1:c.98474C>G (TTN) XP_016860308.1:p.Pro32825Arg
XM_017004820.1:c.93872C>G (TTN) XP_016860309.1:p.Pro31291Arg
XM_017004821.1:c.93869C>G (TTN) XP_016860310.1:p.Pro31290Arg
XM_017004822.1:c.90911C>G (TTN) XP_016860311.1:p.Pro30304Arg
XM_017004823.1:c.72527C>G (TTN) XP_016860312.1:p.Pro24176Arg
XM_024453094.1:c.94022C>G (TTN) XP_024308862.1:p.Pro31341Arg
XM_024453095.1:c.94019C>G (TTN) XP_024308863.1:p.Pro31340Arg
XM_024453096.1:c.93452C>G (TTN) XP_024308864.1:p.Pro31151Arg
XM_024453097.1:c.90794C>G (TTN) XP_024308865.1:p.Pro30265Arg
XM_024453098.1:c.90713C>G (TTN) XP_024308866.1:p.Pro30238Arg
XM_024453099.1:c.72476C>G (TTN) XP_024308867.1:p.Pro24159Arg
XM_024453100.1:c.62330C>G (TTN) XP_024308868.1:p.Pro20777Arg