Canonical Allele Identifier: CA349672195

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178578005A>C , CM000664.2:g.178578005A>C GRCh38
NC_000002.11:g.179442732A>C , CM000664.1:g.179442732A>C GRCh37
NC_000002.10:g.179150978A>C NCBI36
NG_011618.3:g.257798T>G , LRG_391:g.257798T>G
NG_051363.1:g.60179A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.60806T>G (TTN) ENSP00000343764.6:p.Val20269Gly
ENST00000342175.11:c.41891T>G (TTN) ENSP00000340554.6:p.Val13964Gly
ENST00000359218.10:c.41690T>G (TTN) ENSP00000352154.5:p.Val13897Gly
ENST00000342175.10:c.41891T>G (TTN) ENSP00000340554.6:p.Val13964Gly
ENST00000342992.10:c.60806T>G (TTN) ENSP00000343764.6:p.Val20269Gly
ENST00000359218.9:c.41690T>G (TTN) ENSP00000352154.5:p.Val13897Gly
ENST00000460472.6:c.41315T>G (TTN) ENSP00000434586.1:p.Val13772Gly
ENST00000589042.5:c.68510T>G (TTN) MANE Select ENSP00000467141.1:p.Val22837Gly
ENST00000591111.5:c.63587T>G (TTN) ENSP00000465570.1:p.Val21196Gly
ENST00000615779.4:c.63587T>G (TTN) ENSP00000483597.1:p.Val21196Gly
NM_001256850.1:c.63587T>G (TTN) NP_001243779.1:p.Val21196Gly
NM_001267550.2:c.68510T>G (TTN) MANE Select NP_001254479.2:p.Val22837Gly
NM_003319.4:c.41315T>G (TTN) NP_003310.4:p.Val13772Gly
NM_133378.4:c.60806T>G (TTN) NP_596869.4:p.Val20269Gly
NM_133432.3:c.41690T>G (TTN) NP_597676.3:p.Val13897Gly
NM_133437.4:c.41891T>G (TTN) NP_597681.4:p.Val13964Gly
NR_038271.1:n.596+6556A>C (TTN-AS1)
NR_038272.1:n.2044-4567A>C (TTN-AS1)
XM_011511729.1:c.67607T>G (TTN) XP_011510031.1:p.Val22536Gly
XM_011511730.1:c.41501T>G (TTN) XP_011510032.1:p.Val13834Gly
XM_011511731.1:c.41360T>G (TTN) XP_011510033.1:p.Val13787Gly
XM_017004819.1:c.67403T>G (TTN) XP_016860308.1:p.Val22468Gly
XM_017004820.1:c.62801T>G (TTN) XP_016860309.1:p.Val20934Gly
XM_017004821.1:c.62798T>G (TTN) XP_016860310.1:p.Val20933Gly
XM_017004822.1:c.59840T>G (TTN) XP_016860311.1:p.Val19947Gly
XM_017004823.1:c.41456T>G (TTN) XP_016860312.1:p.Val13819Gly
XM_024453094.1:c.62951T>G (TTN) XP_024308862.1:p.Val20984Gly
XM_024453095.1:c.62948T>G (TTN) XP_024308863.1:p.Val20983Gly
XM_024453096.1:c.62381T>G (TTN) XP_024308864.1:p.Val20794Gly
XM_024453097.1:c.59723T>G (TTN) XP_024308865.1:p.Val19908Gly
XM_024453098.1:c.59642T>G (TTN) XP_024308866.1:p.Val19881Gly
XM_024453099.1:c.41405T>G (TTN) XP_024308867.1:p.Val13802Gly
XM_024453100.1:c.31259T>G (TTN) XP_024308868.1:p.Val10420Gly