Canonical Allele Identifier: CA349450514

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88579T>C (TTN) ENSP00000343764.6:p.Ser29527Pro
ENST00000342175.11:c.69664T>C (TTN) ENSP00000340554.6:p.Ser23222Pro
ENST00000359218.10:c.69463T>C (TTN) ENSP00000352154.5:p.Ser23155Pro
ENST00000342175.10:c.69664T>C (TTN) ENSP00000340554.6:p.Ser23222Pro
ENST00000342992.10:c.88579T>C (TTN) ENSP00000343764.6:p.Ser29527Pro
ENST00000359218.9:c.69463T>C (TTN) ENSP00000352154.5:p.Ser23155Pro
ENST00000460472.6:c.69088T>C (TTN) ENSP00000434586.1:p.Ser23030Pro
ENST00000589042.5:c.96283T>C (TTN) MANE Select ENSP00000467141.1:p.Ser32095Pro
ENST00000591111.5:c.91360T>C (TTN) ENSP00000465570.1:p.Ser30454Pro
ENST00000615779.4:c.91360T>C (TTN) ENSP00000483597.1:p.Ser30454Pro
NM_001256850.1:c.91360T>C (TTN) NP_001243779.1:p.Ser30454Pro
NM_001267550.2:c.96283T>C (TTN) MANE Select NP_001254479.2:p.Ser32095Pro
NM_003319.4:c.69088T>C (TTN) NP_003310.4:p.Ser23030Pro
NM_133378.4:c.88579T>C (TTN) NP_596869.4:p.Ser29527Pro
NM_133432.3:c.69463T>C (TTN) NP_597676.3:p.Ser23155Pro
NM_133437.4:c.69664T>C (TTN) NP_597681.4:p.Ser23222Pro
NR_038271.1:n.446+20225A>G (TTN-AS1)
NR_038272.1:n.2043+1500A>G (TTN-AS1)
XM_011511729.1:c.95380T>C (TTN) XP_011510031.1:p.Ser31794Pro
XM_011511730.1:c.69274T>C (TTN) XP_011510032.1:p.Ser23092Pro
XM_011511731.1:c.69133T>C (TTN) XP_011510033.1:p.Ser23045Pro
XM_017004819.1:c.95176T>C (TTN) XP_016860308.1:p.Ser31726Pro
XM_017004820.1:c.90574T>C (TTN) XP_016860309.1:p.Ser30192Pro
XM_017004821.1:c.90571T>C (TTN) XP_016860310.1:p.Ser30191Pro
XM_017004822.1:c.87613T>C (TTN) XP_016860311.1:p.Ser29205Pro
XM_017004823.1:c.69229T>C (TTN) XP_016860312.1:p.Ser23077Pro
XM_024453094.1:c.90724T>C (TTN) XP_024308862.1:p.Ser30242Pro
XM_024453095.1:c.90721T>C (TTN) XP_024308863.1:p.Ser30241Pro
XM_024453096.1:c.90154T>C (TTN) XP_024308864.1:p.Ser30052Pro
XM_024453097.1:c.87496T>C (TTN) XP_024308865.1:p.Ser29166Pro
XM_024453098.1:c.87415T>C (TTN) XP_024308866.1:p.Ser29139Pro
XM_024453099.1:c.69178T>C (TTN) XP_024308867.1:p.Ser23060Pro
XM_024453100.1:c.59032T>C (TTN) XP_024308868.1:p.Ser19678Pro