Canonical Allele Identifier: CA349450497

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543861A>C , CM000664.2:g.178543861A>C GRCh38
NC_000002.11:g.179408588A>C , CM000664.1:g.179408588A>C GRCh37
NC_000002.10:g.179116834A>C NCBI36
NG_011618.3:g.291942T>G , LRG_391:g.291942T>G
NG_051363.1:g.26035A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88579T>G (TTN) ENSP00000343764.6:p.Ser29527Ala
ENST00000342175.11:c.69664T>G (TTN) ENSP00000340554.6:p.Ser23222Ala
ENST00000359218.10:c.69463T>G (TTN) ENSP00000352154.5:p.Ser23155Ala
ENST00000342175.10:c.69664T>G (TTN) ENSP00000340554.6:p.Ser23222Ala
ENST00000342992.10:c.88579T>G (TTN) ENSP00000343764.6:p.Ser29527Ala
ENST00000359218.9:c.69463T>G (TTN) ENSP00000352154.5:p.Ser23155Ala
ENST00000460472.6:c.69088T>G (TTN) ENSP00000434586.1:p.Ser23030Ala
ENST00000589042.5:c.96283T>G (TTN) MANE Select ENSP00000467141.1:p.Ser32095Ala
ENST00000591111.5:c.91360T>G (TTN) ENSP00000465570.1:p.Ser30454Ala
ENST00000615779.4:c.91360T>G (TTN) ENSP00000483597.1:p.Ser30454Ala
NM_001256850.1:c.91360T>G (TTN) NP_001243779.1:p.Ser30454Ala
NM_001267550.2:c.96283T>G (TTN) MANE Select NP_001254479.2:p.Ser32095Ala
NM_003319.4:c.69088T>G (TTN) NP_003310.4:p.Ser23030Ala
NM_133378.4:c.88579T>G (TTN) NP_596869.4:p.Ser29527Ala
NM_133432.3:c.69463T>G (TTN) NP_597676.3:p.Ser23155Ala
NM_133437.4:c.69664T>G (TTN) NP_597681.4:p.Ser23222Ala
NR_038271.1:n.446+20225A>C (TTN-AS1)
NR_038272.1:n.2043+1500A>C (TTN-AS1)
XM_011511729.1:c.95380T>G (TTN) XP_011510031.1:p.Ser31794Ala
XM_011511730.1:c.69274T>G (TTN) XP_011510032.1:p.Ser23092Ala
XM_011511731.1:c.69133T>G (TTN) XP_011510033.1:p.Ser23045Ala
XM_017004819.1:c.95176T>G (TTN) XP_016860308.1:p.Ser31726Ala
XM_017004820.1:c.90574T>G (TTN) XP_016860309.1:p.Ser30192Ala
XM_017004821.1:c.90571T>G (TTN) XP_016860310.1:p.Ser30191Ala
XM_017004822.1:c.87613T>G (TTN) XP_016860311.1:p.Ser29205Ala
XM_017004823.1:c.69229T>G (TTN) XP_016860312.1:p.Ser23077Ala
XM_024453094.1:c.90724T>G (TTN) XP_024308862.1:p.Ser30242Ala
XM_024453095.1:c.90721T>G (TTN) XP_024308863.1:p.Ser30241Ala
XM_024453096.1:c.90154T>G (TTN) XP_024308864.1:p.Ser30052Ala
XM_024453097.1:c.87496T>G (TTN) XP_024308865.1:p.Ser29166Ala
XM_024453098.1:c.87415T>G (TTN) XP_024308866.1:p.Ser29139Ala
XM_024453099.1:c.69178T>G (TTN) XP_024308867.1:p.Ser23060Ala
XM_024453100.1:c.59032T>G (TTN) XP_024308868.1:p.Ser19678Ala