Canonical Allele Identifier: CA2662128655

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178557602T>A , CM000664.2:g.178557602T>A GRCh38
NC_000002.11:g.179422329T>A , CM000664.1:g.179422329T>A GRCh37
NC_000002.10:g.179130575T>A NCBI36
NG_011618.3:g.278201A>T , LRG_391:g.278201A>T
NG_051363.1:g.39776T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.80003-47A>T (TTN) ENSP00000343764.6:n.80003-47A>T
ENST00000342175.11:c.61088-47A>T (TTN) ENSP00000340554.6:n.61088-47A>T
ENST00000359218.10:c.60887-47A>T (TTN) ENSP00000352154.5:n.60887-47A>T
ENST00000342175.10:c.61088-47A>T (TTN) ENSP00000340554.6:n.61088-47A>T
ENST00000342992.10:c.80003-47A>T (TTN) ENSP00000343764.6:n.80003-47A>T
ENST00000359218.9:c.60887-47A>T (TTN) ENSP00000352154.5:n.60887-47A>T
ENST00000460472.6:c.60512-47A>T (TTN) ENSP00000434586.1:n.60512-47A>T
ENST00000589042.5:c.87707-47A>T (TTN) MANE Select ENSP00000467141.1:n.87707-47A>T
ENST00000591111.5:c.82784-47A>T (TTN) ENSP00000465570.1:n.82784-47A>T
ENST00000615779.4:c.82784-47A>T (TTN) ENSP00000483597.1:n.82784-47A>T
NM_001256850.1:c.82784-47A>T (TTN) NP_001243779.1:n.82784-47A>T
NM_001267550.2:c.87707-47A>T (TTN) MANE Select NP_001254479.2:n.87707-47A>T
NM_003319.4:c.60512-47A>T (TTN) NP_003310.4:n.60512-47A>T
NM_133378.4:c.80003-47A>T (TTN) NP_596869.4:n.80003-47A>T
NM_133432.3:c.60887-47A>T (TTN) NP_597676.3:n.60887-47A>T
NM_133437.4:c.61088-47A>T (TTN) NP_597681.4:n.61088-47A>T
NR_038271.1:n.447-13698T>A (TTN-AS1)
NR_038272.1:n.2043+15241T>A (TTN-AS1)
XM_011511729.1:c.86804-47A>T (TTN) XP_011510031.1:n.86804-47A>T
XM_011511730.1:c.60698-47A>T (TTN) XP_011510032.1:n.60698-47A>T
XM_011511731.1:c.60557-47A>T (TTN) XP_011510033.1:n.60557-47A>T
XM_017004819.1:c.86600-47A>T (TTN) XP_016860308.1:n.86600-47A>T
XM_017004820.1:c.81998-47A>T (TTN) XP_016860309.1:n.81998-47A>T
XM_017004821.1:c.81995-47A>T (TTN) XP_016860310.1:n.81995-47A>T
XM_017004822.1:c.79037-47A>T (TTN) XP_016860311.1:n.79037-47A>T
XM_017004823.1:c.60653-47A>T (TTN) XP_016860312.1:n.60653-47A>T
XM_024453094.1:c.82148-47A>T (TTN) XP_024308862.1:n.82148-47A>T
XM_024453095.1:c.82145-47A>T (TTN) XP_024308863.1:n.82145-47A>T
XM_024453096.1:c.81578-47A>T (TTN) XP_024308864.1:n.81578-47A>T
XM_024453097.1:c.78920-47A>T (TTN) XP_024308865.1:n.78920-47A>T
XM_024453098.1:c.78839-47A>T (TTN) XP_024308866.1:n.78839-47A>T
XM_024453099.1:c.60602-47A>T (TTN) XP_024308867.1:n.60602-47A>T
XM_024453100.1:c.50456-47A>T (TTN) XP_024308868.1:n.50456-47A>T