Canonical Allele Identifier: CA349480088

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591018A>G , CM000664.2:g.178591018A>G GRCh38
NC_000002.11:g.179455745A>G , CM000664.1:g.179455745A>G GRCh37
NC_000002.10:g.179163991A>G NCBI36
NG_011618.3:g.244785T>C , LRG_391:g.244785T>C
NG_051363.1:g.73192A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.53003T>C (TTN) ENSP00000343764.6:p.Leu17668Pro
ENST00000342175.11:c.34088T>C (TTN) ENSP00000340554.6:p.Leu11363Pro
ENST00000359218.10:c.33887T>C (TTN) ENSP00000352154.5:p.Leu11296Pro
ENST00000342175.10:c.34088T>C (TTN) ENSP00000340554.6:p.Leu11363Pro
ENST00000342992.10:c.53003T>C (TTN) ENSP00000343764.6:p.Leu17668Pro
ENST00000359218.9:c.33887T>C (TTN) ENSP00000352154.5:p.Leu11296Pro
ENST00000460472.6:c.33512T>C (TTN) ENSP00000434586.1:p.Leu11171Pro
ENST00000589042.5:c.60707T>C (TTN) MANE Select ENSP00000467141.1:p.Leu20236Pro
ENST00000591111.5:c.55784T>C (TTN) ENSP00000465570.1:p.Leu18595Pro
ENST00000615779.4:c.55784T>C (TTN) ENSP00000483597.1:p.Leu18595Pro
NM_001256850.1:c.55784T>C (TTN) NP_001243779.1:p.Leu18595Pro
NM_001267550.2:c.60707T>C (TTN) MANE Select NP_001254479.2:p.Leu20236Pro
NM_003319.4:c.33512T>C (TTN) NP_003310.4:p.Leu11171Pro
NM_133378.4:c.53003T>C (TTN) NP_596869.4:p.Leu17668Pro
NM_133432.3:c.33887T>C (TTN) NP_597676.3:p.Leu11296Pro
NM_133437.4:c.34088T>C (TTN) NP_597681.4:p.Leu11363Pro
NR_038271.1:n.597-6578A>G (TTN-AS1)
NR_038272.1:n.3189-121A>G (TTN-AS1)
XM_011511729.1:c.59804T>C (TTN) XP_011510031.1:p.Leu19935Pro
XM_011511730.1:c.33698T>C (TTN) XP_011510032.1:p.Leu11233Pro
XM_011511731.1:c.33557T>C (TTN) XP_011510033.1:p.Leu11186Pro
XM_017004819.1:c.59600T>C (TTN) XP_016860308.1:p.Leu19867Pro
XM_017004820.1:c.54998T>C (TTN) XP_016860309.1:p.Leu18333Pro
XM_017004821.1:c.54995T>C (TTN) XP_016860310.1:p.Leu18332Pro
XM_017004822.1:c.52037T>C (TTN) XP_016860311.1:p.Leu17346Pro
XM_017004823.1:c.33653T>C (TTN) XP_016860312.1:p.Leu11218Pro
XM_024453094.1:c.55148T>C (TTN) XP_024308862.1:p.Leu18383Pro
XM_024453095.1:c.55145T>C (TTN) XP_024308863.1:p.Leu18382Pro
XM_024453096.1:c.54578T>C (TTN) XP_024308864.1:p.Leu18193Pro
XM_024453097.1:c.51920T>C (TTN) XP_024308865.1:p.Leu17307Pro
XM_024453098.1:c.51839T>C (TTN) XP_024308866.1:p.Leu17280Pro
XM_024453099.1:c.33602T>C (TTN) XP_024308867.1:p.Leu11201Pro
XM_024453100.1:c.23456T>C (TTN) XP_024308868.1:p.Leu7819Pro