Canonical Allele Identifier: CA349424689

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178580327A>C , CM000664.2:g.178580327A>C GRCh38
NC_000002.11:g.179445054A>C , CM000664.1:g.179445054A>C GRCh37
NC_000002.10:g.179153300A>C NCBI36
NG_011618.3:g.255476T>G , LRG_391:g.255476T>G
NG_051363.1:g.62501A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.59348T>G (TTN) ENSP00000343764.6:p.Val19783Gly
ENST00000342175.11:c.40433T>G (TTN) ENSP00000340554.6:p.Val13478Gly
ENST00000359218.10:c.40232T>G (TTN) ENSP00000352154.5:p.Val13411Gly
ENST00000342175.10:c.40433T>G (TTN) ENSP00000340554.6:p.Val13478Gly
ENST00000342992.10:c.59348T>G (TTN) ENSP00000343764.6:p.Val19783Gly
ENST00000359218.9:c.40232T>G (TTN) ENSP00000352154.5:p.Val13411Gly
ENST00000460472.6:c.39857T>G (TTN) ENSP00000434586.1:p.Val13286Gly
ENST00000589042.5:c.67052T>G (TTN) MANE Select ENSP00000467141.1:p.Val22351Gly
ENST00000591111.5:c.62129T>G (TTN) ENSP00000465570.1:p.Val20710Gly
ENST00000615779.4:c.62129T>G (TTN) ENSP00000483597.1:p.Val20710Gly
NM_001256850.1:c.62129T>G (TTN) NP_001243779.1:p.Val20710Gly
NM_001267550.2:c.67052T>G (TTN) MANE Select NP_001254479.2:p.Val22351Gly
NM_003319.4:c.39857T>G (TTN) NP_003310.4:p.Val13286Gly
NM_133378.4:c.59348T>G (TTN) NP_596869.4:p.Val19783Gly
NM_133432.3:c.40232T>G (TTN) NP_597676.3:p.Val13411Gly
NM_133437.4:c.40433T>G (TTN) NP_597681.4:p.Val13478Gly
NR_038271.1:n.596+8878A>C (TTN-AS1)
NR_038272.1:n.2044-2245A>C (TTN-AS1)
XM_011511729.1:c.66149T>G (TTN) XP_011510031.1:p.Val22050Gly
XM_011511730.1:c.40043T>G (TTN) XP_011510032.1:p.Val13348Gly
XM_011511731.1:c.39902T>G (TTN) XP_011510033.1:p.Val13301Gly
XM_017004819.1:c.65945T>G (TTN) XP_016860308.1:p.Val21982Gly
XM_017004820.1:c.61343T>G (TTN) XP_016860309.1:p.Val20448Gly
XM_017004821.1:c.61340T>G (TTN) XP_016860310.1:p.Val20447Gly
XM_017004822.1:c.58382T>G (TTN) XP_016860311.1:p.Val19461Gly
XM_017004823.1:c.39998T>G (TTN) XP_016860312.1:p.Val13333Gly
XM_024453094.1:c.61493T>G (TTN) XP_024308862.1:p.Val20498Gly
XM_024453095.1:c.61490T>G (TTN) XP_024308863.1:p.Val20497Gly
XM_024453096.1:c.60923T>G (TTN) XP_024308864.1:p.Val20308Gly
XM_024453097.1:c.58265T>G (TTN) XP_024308865.1:p.Val19422Gly
XM_024453098.1:c.58184T>G (TTN) XP_024308866.1:p.Val19395Gly
XM_024453099.1:c.39947T>G (TTN) XP_024308867.1:p.Val13316Gly
XM_024453100.1:c.29801T>G (TTN) XP_024308868.1:p.Val9934Gly