Canonical Allele Identifier: CA155886

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178541499G>A , CM000664.2:g.178541499G>A GRCh38
NC_000002.11:g.179406226G>A , CM000664.1:g.179406226G>A GRCh37
NC_000002.10:g.179114472G>A NCBI36
NG_011618.3:g.294304C>T , LRG_391:g.294304C>T
NG_051363.1:g.23673G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.89874C>T (TTN) ENSP00000343764.6:p.Asp29958=
ENST00000342175.11:c.70959C>T (TTN) ENSP00000340554.6:p.Asp23653=
ENST00000359218.10:c.70758C>T (TTN) ENSP00000352154.5:p.Asp23586=
ENST00000342175.10:c.70959C>T (TTN) ENSP00000340554.6:p.Asp23653=
ENST00000342992.10:c.89874C>T (TTN) ENSP00000343764.6:p.Asp29958=
ENST00000359218.9:c.70758C>T (TTN) ENSP00000352154.5:p.Asp23586=
ENST00000460472.6:c.70383C>T (TTN) ENSP00000434586.1:p.Asp23461=
ENST00000589042.5:c.97578C>T (TTN) MANE Select ENSP00000467141.1:p.Asp32526=
ENST00000591111.5:c.92655C>T (TTN) ENSP00000465570.1:p.Asp30885=
ENST00000615779.4:c.92655C>T (TTN) ENSP00000483597.1:p.Asp30885=
NM_001256850.1:c.92655C>T (TTN) NP_001243779.1:p.Asp30885=
NM_001267550.2:c.97578C>T (TTN) MANE Select NP_001254479.2:p.Asp32526=
NM_003319.4:c.70383C>T (TTN) NP_003310.4:p.Asp23461=
NM_133378.4:c.89874C>T (TTN) NP_596869.4:p.Asp29958=
NM_133432.3:c.70758C>T (TTN) NP_597676.3:p.Asp23586=
NM_133437.4:c.70959C>T (TTN) NP_597681.4:p.Asp23653=
NR_038271.1:n.446+17863G>A (TTN-AS1)
NR_038272.1:n.1904-723G>A (TTN-AS1)
XM_011511729.1:c.96675C>T (TTN) XP_011510031.1:p.Asp32225=
XM_011511730.1:c.70569C>T (TTN) XP_011510032.1:p.Asp23523=
XM_011511731.1:c.70428C>T (TTN) XP_011510033.1:p.Asp23476=
XM_017004819.1:c.96471C>T (TTN) XP_016860308.1:p.Asp32157=
XM_017004820.1:c.91869C>T (TTN) XP_016860309.1:p.Asp30623=
XM_017004821.1:c.91866C>T (TTN) XP_016860310.1:p.Asp30622=
XM_017004822.1:c.88908C>T (TTN) XP_016860311.1:p.Asp29636=
XM_017004823.1:c.70524C>T (TTN) XP_016860312.1:p.Asp23508=
XM_024453094.1:c.92019C>T (TTN) XP_024308862.1:p.Asp30673=
XM_024453095.1:c.92016C>T (TTN) XP_024308863.1:p.Asp30672=
XM_024453096.1:c.91449C>T (TTN) XP_024308864.1:p.Asp30483=
XM_024453097.1:c.88791C>T (TTN) XP_024308865.1:p.Asp29597=
XM_024453098.1:c.88710C>T (TTN) XP_024308866.1:p.Asp29570=
XM_024453099.1:c.70473C>T (TTN) XP_024308867.1:p.Asp23491=
XM_024453100.1:c.60327C>T (TTN) XP_024308868.1:p.Asp20109=