Canonical Allele Identifier: CA349423321

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178579563A>T , CM000664.2:g.178579563A>T GRCh38
NC_000002.11:g.179444290A>T , CM000664.1:g.179444290A>T GRCh37
NC_000002.10:g.179152536A>T NCBI36
NG_011618.3:g.256240T>A , LRG_391:g.256240T>A
NG_051363.1:g.61737A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.59930T>A (TTN) ENSP00000343764.6:p.Val19977Asp
ENST00000342175.11:c.41015T>A (TTN) ENSP00000340554.6:p.Val13672Asp
ENST00000359218.10:c.40814T>A (TTN) ENSP00000352154.5:p.Val13605Asp
ENST00000342175.10:c.41015T>A (TTN) ENSP00000340554.6:p.Val13672Asp
ENST00000342992.10:c.59930T>A (TTN) ENSP00000343764.6:p.Val19977Asp
ENST00000359218.9:c.40814T>A (TTN) ENSP00000352154.5:p.Val13605Asp
ENST00000460472.6:c.40439T>A (TTN) ENSP00000434586.1:p.Val13480Asp
ENST00000589042.5:c.67634T>A (TTN) MANE Select ENSP00000467141.1:p.Val22545Asp
ENST00000591111.5:c.62711T>A (TTN) ENSP00000465570.1:p.Val20904Asp
ENST00000615779.4:c.62711T>A (TTN) ENSP00000483597.1:p.Val20904Asp
NM_001256850.1:c.62711T>A (TTN) NP_001243779.1:p.Val20904Asp
NM_001267550.2:c.67634T>A (TTN) MANE Select NP_001254479.2:p.Val22545Asp
NM_003319.4:c.40439T>A (TTN) NP_003310.4:p.Val13480Asp
NM_133378.4:c.59930T>A (TTN) NP_596869.4:p.Val19977Asp
NM_133432.3:c.40814T>A (TTN) NP_597676.3:p.Val13605Asp
NM_133437.4:c.41015T>A (TTN) NP_597681.4:p.Val13672Asp
NR_038271.1:n.596+8114A>T (TTN-AS1)
NR_038272.1:n.2044-3009A>T (TTN-AS1)
XM_011511729.1:c.66731T>A (TTN) XP_011510031.1:p.Val22244Asp
XM_011511730.1:c.40625T>A (TTN) XP_011510032.1:p.Val13542Asp
XM_011511731.1:c.40484T>A (TTN) XP_011510033.1:p.Val13495Asp
XM_017004819.1:c.66527T>A (TTN) XP_016860308.1:p.Val22176Asp
XM_017004820.1:c.61925T>A (TTN) XP_016860309.1:p.Val20642Asp
XM_017004821.1:c.61922T>A (TTN) XP_016860310.1:p.Val20641Asp
XM_017004822.1:c.58964T>A (TTN) XP_016860311.1:p.Val19655Asp
XM_017004823.1:c.40580T>A (TTN) XP_016860312.1:p.Val13527Asp
XM_024453094.1:c.62075T>A (TTN) XP_024308862.1:p.Val20692Asp
XM_024453095.1:c.62072T>A (TTN) XP_024308863.1:p.Val20691Asp
XM_024453096.1:c.61505T>A (TTN) XP_024308864.1:p.Val20502Asp
XM_024453097.1:c.58847T>A (TTN) XP_024308865.1:p.Val19616Asp
XM_024453098.1:c.58766T>A (TTN) XP_024308866.1:p.Val19589Asp
XM_024453099.1:c.40529T>A (TTN) XP_024308867.1:p.Val13510Asp
XM_024453100.1:c.30383T>A (TTN) XP_024308868.1:p.Val10128Asp