Canonical Allele Identifier: CA349405806

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530248T>G , CM000664.2:g.178530248T>G GRCh38
NC_000002.11:g.179394975T>G , CM000664.1:g.179394975T>G GRCh37
NC_000002.10:g.179103221T>G NCBI36
NG_011618.3:g.305555A>C , LRG_391:g.305555A>C
NG_051363.1:g.12422T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98663A>C (TTN) ENSP00000343764.6:p.Asp32888Ala
ENST00000342175.11:c.79748A>C (TTN) ENSP00000340554.6:p.Asp26583Ala
ENST00000359218.10:c.79547A>C (TTN) ENSP00000352154.5:p.Asp26516Ala
ENST00000342175.10:c.79748A>C (TTN) ENSP00000340554.6:p.Asp26583Ala
ENST00000342992.10:c.98663A>C (TTN) ENSP00000343764.6:p.Asp32888Ala
ENST00000359218.9:c.79547A>C (TTN) ENSP00000352154.5:p.Asp26516Ala
ENST00000460472.6:c.79172A>C (TTN) ENSP00000434586.1:p.Asp26391Ala
ENST00000589042.5:c.106367A>C (TTN) MANE Select ENSP00000467141.1:p.Asp35456Ala
ENST00000591111.5:c.101444A>C (TTN) ENSP00000465570.1:p.Asp33815Ala
ENST00000615779.4:c.101444A>C (TTN) ENSP00000483597.1:p.Asp33815Ala
NM_001256850.1:c.101444A>C (TTN) NP_001243779.1:p.Asp33815Ala
NM_001267550.2:c.106367A>C (TTN) MANE Select NP_001254479.2:p.Asp35456Ala
NM_003319.4:c.79172A>C (TTN) NP_003310.4:p.Asp26391Ala
NM_133378.4:c.98663A>C (TTN) NP_596869.4:p.Asp32888Ala
NM_133432.3:c.79547A>C (TTN) NP_597676.3:p.Asp26516Ala
NM_133437.4:c.79748A>C (TTN) NP_597681.4:p.Asp26583Ala
NR_038271.1:n.446+6612T>G (TTN-AS1)
NR_038272.1:n.220-5484T>G (TTN-AS1)
XM_011511729.1:c.105464A>C (TTN) XP_011510031.1:p.Asp35155Ala
XM_011511730.1:c.79358A>C (TTN) XP_011510032.1:p.Asp26453Ala
XM_011511731.1:c.79217A>C (TTN) XP_011510033.1:p.Asp26406Ala
XM_017004819.1:c.105260A>C (TTN) XP_016860308.1:p.Asp35087Ala
XM_017004820.1:c.100658A>C (TTN) XP_016860309.1:p.Asp33553Ala
XM_017004821.1:c.100655A>C (TTN) XP_016860310.1:p.Asp33552Ala
XM_017004822.1:c.97697A>C (TTN) XP_016860311.1:p.Asp32566Ala
XM_017004823.1:c.79313A>C (TTN) XP_016860312.1:p.Asp26438Ala
XM_024453094.1:c.100808A>C (TTN) XP_024308862.1:p.Asp33603Ala
XM_024453095.1:c.100805A>C (TTN) XP_024308863.1:p.Asp33602Ala
XM_024453096.1:c.100238A>C (TTN) XP_024308864.1:p.Asp33413Ala
XM_024453097.1:c.97580A>C (TTN) XP_024308865.1:p.Asp32527Ala
XM_024453098.1:c.97499A>C (TTN) XP_024308866.1:p.Asp32500Ala
XM_024453099.1:c.79262A>C (TTN) XP_024308867.1:p.Asp26421Ala
XM_024453100.1:c.69116A>C (TTN) XP_024308868.1:p.Asp23039Ala