Canonical Allele Identifier: CA349503992

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178551834C>G , CM000664.2:g.178551834C>G GRCh38
NC_000002.11:g.179416561C>G , CM000664.1:g.179416561C>G GRCh37
NC_000002.10:g.179124807C>G NCBI36
NG_011618.3:g.283969G>C , LRG_391:g.283969G>C
NG_051363.1:g.34008C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.83362G>C (TTN) ENSP00000343764.6:p.Val27788Leu
ENST00000342175.11:c.64447G>C (TTN) ENSP00000340554.6:p.Val21483Leu
ENST00000359218.10:c.64246G>C (TTN) ENSP00000352154.5:p.Val21416Leu
ENST00000342175.10:c.64447G>C (TTN) ENSP00000340554.6:p.Val21483Leu
ENST00000342992.10:c.83362G>C (TTN) ENSP00000343764.6:p.Val27788Leu
ENST00000359218.9:c.64246G>C (TTN) ENSP00000352154.5:p.Val21416Leu
ENST00000460472.6:c.63871G>C (TTN) ENSP00000434586.1:p.Val21291Leu
ENST00000589042.5:c.91066G>C (TTN) MANE Select ENSP00000467141.1:p.Val30356Leu
ENST00000591111.5:c.86143G>C (TTN) ENSP00000465570.1:p.Val28715Leu
ENST00000615779.4:c.86143G>C (TTN) ENSP00000483597.1:p.Val28715Leu
NM_001256850.1:c.86143G>C (TTN) NP_001243779.1:p.Val28715Leu
NM_001267550.2:c.91066G>C (TTN) MANE Select NP_001254479.2:p.Val30356Leu
NM_003319.4:c.63871G>C (TTN) NP_003310.4:p.Val21291Leu
NM_133378.4:c.83362G>C (TTN) NP_596869.4:p.Val27788Leu
NM_133432.3:c.64246G>C (TTN) NP_597676.3:p.Val21416Leu
NM_133437.4:c.64447G>C (TTN) NP_597681.4:p.Val21483Leu
NR_038271.1:n.447-19466C>G (TTN-AS1)
NR_038272.1:n.2043+9473C>G (TTN-AS1)
XM_011511729.1:c.90163G>C (TTN) XP_011510031.1:p.Val30055Leu
XM_011511730.1:c.64057G>C (TTN) XP_011510032.1:p.Val21353Leu
XM_011511731.1:c.63916G>C (TTN) XP_011510033.1:p.Val21306Leu
XM_017004819.1:c.89959G>C (TTN) XP_016860308.1:p.Val29987Leu
XM_017004820.1:c.85357G>C (TTN) XP_016860309.1:p.Val28453Leu
XM_017004821.1:c.85354G>C (TTN) XP_016860310.1:p.Val28452Leu
XM_017004822.1:c.82396G>C (TTN) XP_016860311.1:p.Val27466Leu
XM_017004823.1:c.64012G>C (TTN) XP_016860312.1:p.Val21338Leu
XM_024453094.1:c.85507G>C (TTN) XP_024308862.1:p.Val28503Leu
XM_024453095.1:c.85504G>C (TTN) XP_024308863.1:p.Val28502Leu
XM_024453096.1:c.84937G>C (TTN) XP_024308864.1:p.Val28313Leu
XM_024453097.1:c.82279G>C (TTN) XP_024308865.1:p.Val27427Leu
XM_024453098.1:c.82198G>C (TTN) XP_024308866.1:p.Val27400Leu
XM_024453099.1:c.63961G>C (TTN) XP_024308867.1:p.Val21321Leu
XM_024453100.1:c.53815G>C (TTN) XP_024308868.1:p.Val17939Leu