Canonical Allele Identifier: CA349664582

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178575982T>A , CM000664.2:g.178575982T>A GRCh38
NC_000002.11:g.179440709T>A , CM000664.1:g.179440709T>A GRCh37
NC_000002.10:g.179148955T>A NCBI36
NG_011618.3:g.259821A>T , LRG_391:g.259821A>T
NG_051363.1:g.58156T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.62446A>T (TTN) ENSP00000343764.6:p.Asn20816Tyr
ENST00000342175.11:c.43531A>T (TTN) ENSP00000340554.6:p.Asn14511Tyr
ENST00000359218.10:c.43330A>T (TTN) ENSP00000352154.5:p.Asn14444Tyr
ENST00000342175.10:c.43531A>T (TTN) ENSP00000340554.6:p.Asn14511Tyr
ENST00000342992.10:c.62446A>T (TTN) ENSP00000343764.6:p.Asn20816Tyr
ENST00000359218.9:c.43330A>T (TTN) ENSP00000352154.5:p.Asn14444Tyr
ENST00000460472.6:c.42955A>T (TTN) ENSP00000434586.1:p.Asn14319Tyr
ENST00000589042.5:c.70150A>T (TTN) MANE Select ENSP00000467141.1:p.Asn23384Tyr
ENST00000591111.5:c.65227A>T (TTN) ENSP00000465570.1:p.Asn21743Tyr
ENST00000615779.4:c.65227A>T (TTN) ENSP00000483597.1:p.Asn21743Tyr
NM_001256850.1:c.65227A>T (TTN) NP_001243779.1:p.Asn21743Tyr
NM_001267550.2:c.70150A>T (TTN) MANE Select NP_001254479.2:p.Asn23384Tyr
NM_003319.4:c.42955A>T (TTN) NP_003310.4:p.Asn14319Tyr
NM_133378.4:c.62446A>T (TTN) NP_596869.4:p.Asn20816Tyr
NM_133432.3:c.43330A>T (TTN) NP_597676.3:p.Asn14444Tyr
NM_133437.4:c.43531A>T (TTN) NP_597681.4:p.Asn14511Tyr
NR_038271.1:n.596+4533T>A (TTN-AS1)
NR_038272.1:n.2044-6590T>A (TTN-AS1)
XM_011511729.1:c.69247A>T (TTN) XP_011510031.1:p.Asn23083Tyr
XM_011511730.1:c.43141A>T (TTN) XP_011510032.1:p.Asn14381Tyr
XM_011511731.1:c.43000A>T (TTN) XP_011510033.1:p.Asn14334Tyr
XM_017004819.1:c.69043A>T (TTN) XP_016860308.1:p.Asn23015Tyr
XM_017004820.1:c.64441A>T (TTN) XP_016860309.1:p.Asn21481Tyr
XM_017004821.1:c.64438A>T (TTN) XP_016860310.1:p.Asn21480Tyr
XM_017004822.1:c.61480A>T (TTN) XP_016860311.1:p.Asn20494Tyr
XM_017004823.1:c.43096A>T (TTN) XP_016860312.1:p.Asn14366Tyr
XM_024453094.1:c.64591A>T (TTN) XP_024308862.1:p.Asn21531Tyr
XM_024453095.1:c.64588A>T (TTN) XP_024308863.1:p.Asn21530Tyr
XM_024453096.1:c.64021A>T (TTN) XP_024308864.1:p.Asn21341Tyr
XM_024453097.1:c.61363A>T (TTN) XP_024308865.1:p.Asn20455Tyr
XM_024453098.1:c.61282A>T (TTN) XP_024308866.1:p.Asn20428Tyr
XM_024453099.1:c.43045A>T (TTN) XP_024308867.1:p.Asn14349Tyr
XM_024453100.1:c.32899A>T (TTN) XP_024308868.1:p.Asn10967Tyr