Canonical Allele Identifier: CA349621885

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178570561C>A , CM000664.2:g.178570561C>A GRCh38
NC_000002.11:g.179435288C>A , CM000664.1:g.179435288C>A GRCh37
NC_000002.10:g.179143534C>A NCBI36
NG_011618.3:g.265242G>T , LRG_391:g.265242G>T
NG_051363.1:g.52735C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.67867G>T (TTN) ENSP00000343764.6:p.Gly22623Ter
ENST00000342175.11:c.48952G>T (TTN) ENSP00000340554.6:p.Gly16318Ter
ENST00000359218.10:c.48751G>T (TTN) ENSP00000352154.5:p.Gly16251Ter
ENST00000342175.10:c.48952G>T (TTN) ENSP00000340554.6:p.Gly16318Ter
ENST00000342992.10:c.67867G>T (TTN) ENSP00000343764.6:p.Gly22623Ter
ENST00000359218.9:c.48751G>T (TTN) ENSP00000352154.5:p.Gly16251Ter
ENST00000460472.6:c.48376G>T (TTN) ENSP00000434586.1:p.Gly16126Ter
ENST00000589042.5:c.75571G>T (TTN) MANE Select ENSP00000467141.1:p.Gly25191Ter
ENST00000591111.5:c.70648G>T (TTN) ENSP00000465570.1:p.Gly23550Ter
ENST00000615779.4:c.70648G>T (TTN) ENSP00000483597.1:p.Gly23550Ter
NM_001256850.1:c.70648G>T (TTN) NP_001243779.1:p.Gly23550Ter
NM_001267550.2:c.75571G>T (TTN) MANE Select NP_001254479.2:p.Gly25191Ter
NM_003319.4:c.48376G>T (TTN) NP_003310.4:p.Gly16126Ter
NM_133378.4:c.67867G>T (TTN) NP_596869.4:p.Gly22623Ter
NM_133432.3:c.48751G>T (TTN) NP_597676.3:p.Gly16251Ter
NM_133437.4:c.48952G>T (TTN) NP_597681.4:p.Gly16318Ter
NR_038271.1:n.447-739C>A (TTN-AS1)
NR_038272.1:n.2044-12011C>A (TTN-AS1)
XM_011511729.1:c.74668G>T (TTN) XP_011510031.1:p.Gly24890Ter
XM_011511730.1:c.48562G>T (TTN) XP_011510032.1:p.Gly16188Ter
XM_011511731.1:c.48421G>T (TTN) XP_011510033.1:p.Gly16141Ter
XM_017004819.1:c.74464G>T (TTN) XP_016860308.1:p.Gly24822Ter
XM_017004820.1:c.69862G>T (TTN) XP_016860309.1:p.Gly23288Ter
XM_017004821.1:c.69859G>T (TTN) XP_016860310.1:p.Gly23287Ter
XM_017004822.1:c.66901G>T (TTN) XP_016860311.1:p.Gly22301Ter
XM_017004823.1:c.48517G>T (TTN) XP_016860312.1:p.Gly16173Ter
XM_024453094.1:c.70012G>T (TTN) XP_024308862.1:p.Gly23338Ter
XM_024453095.1:c.70009G>T (TTN) XP_024308863.1:p.Gly23337Ter
XM_024453096.1:c.69442G>T (TTN) XP_024308864.1:p.Gly23148Ter
XM_024453097.1:c.66784G>T (TTN) XP_024308865.1:p.Gly22262Ter
XM_024453098.1:c.66703G>T (TTN) XP_024308866.1:p.Gly22235Ter
XM_024453099.1:c.48466G>T (TTN) XP_024308867.1:p.Gly16156Ter
XM_024453100.1:c.38320G>T (TTN) XP_024308868.1:p.Gly12774Ter