Canonical Allele Identifier: CA349411897

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532249T>G , CM000664.2:g.178532249T>G GRCh38
NC_000002.11:g.179396976T>G , CM000664.1:g.179396976T>G GRCh37
NC_000002.10:g.179105222T>G NCBI36
NG_011618.3:g.303554A>C , LRG_391:g.303554A>C
NG_051363.1:g.14423T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96662A>C (TTN) ENSP00000343764.6:p.Glu32221Ala
ENST00000342175.11:c.77747A>C (TTN) ENSP00000340554.6:p.Glu25916Ala
ENST00000359218.10:c.77546A>C (TTN) ENSP00000352154.5:p.Glu25849Ala
ENST00000342175.10:c.77747A>C (TTN) ENSP00000340554.6:p.Glu25916Ala
ENST00000342992.10:c.96662A>C (TTN) ENSP00000343764.6:p.Glu32221Ala
ENST00000359218.9:c.77546A>C (TTN) ENSP00000352154.5:p.Glu25849Ala
ENST00000460472.6:c.77171A>C (TTN) ENSP00000434586.1:p.Glu25724Ala
ENST00000589042.5:c.104366A>C (TTN) MANE Select ENSP00000467141.1:p.Glu34789Ala
ENST00000591111.5:c.99443A>C (TTN) ENSP00000465570.1:p.Glu33148Ala
ENST00000615779.4:c.99443A>C (TTN) ENSP00000483597.1:p.Glu33148Ala
NM_001256850.1:c.99443A>C (TTN) NP_001243779.1:p.Glu33148Ala
NM_001267550.2:c.104366A>C (TTN) MANE Select NP_001254479.2:p.Glu34789Ala
NM_003319.4:c.77171A>C (TTN) NP_003310.4:p.Glu25724Ala
NM_133378.4:c.96662A>C (TTN) NP_596869.4:p.Glu32221Ala
NM_133432.3:c.77546A>C (TTN) NP_597676.3:p.Glu25849Ala
NM_133437.4:c.77747A>C (TTN) NP_597681.4:p.Glu25916Ala
NR_038271.1:n.446+8613T>G (TTN-AS1)
NR_038272.1:n.220-3483T>G (TTN-AS1)
XM_011511729.1:c.103463A>C (TTN) XP_011510031.1:p.Glu34488Ala
XM_011511730.1:c.77357A>C (TTN) XP_011510032.1:p.Glu25786Ala
XM_011511731.1:c.77216A>C (TTN) XP_011510033.1:p.Glu25739Ala
XM_017004819.1:c.103259A>C (TTN) XP_016860308.1:p.Glu34420Ala
XM_017004820.1:c.98657A>C (TTN) XP_016860309.1:p.Glu32886Ala
XM_017004821.1:c.98654A>C (TTN) XP_016860310.1:p.Glu32885Ala
XM_017004822.1:c.95696A>C (TTN) XP_016860311.1:p.Glu31899Ala
XM_017004823.1:c.77312A>C (TTN) XP_016860312.1:p.Glu25771Ala
XM_024453094.1:c.98807A>C (TTN) XP_024308862.1:p.Glu32936Ala
XM_024453095.1:c.98804A>C (TTN) XP_024308863.1:p.Glu32935Ala
XM_024453096.1:c.98237A>C (TTN) XP_024308864.1:p.Glu32746Ala
XM_024453097.1:c.95579A>C (TTN) XP_024308865.1:p.Glu31860Ala
XM_024453098.1:c.95498A>C (TTN) XP_024308866.1:p.Glu31833Ala
XM_024453099.1:c.77261A>C (TTN) XP_024308867.1:p.Glu25754Ala
XM_024453100.1:c.67115A>C (TTN) XP_024308868.1:p.Glu22372Ala