Canonical Allele Identifier: CA349411917

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532258T>A , CM000664.2:g.178532258T>A GRCh38
NC_000002.11:g.179396985T>A , CM000664.1:g.179396985T>A GRCh37
NC_000002.10:g.179105231T>A NCBI36
NG_011618.3:g.303545A>T , LRG_391:g.303545A>T
NG_051363.1:g.14432T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96653A>T (TTN) ENSP00000343764.6:p.Tyr32218Phe
ENST00000342175.11:c.77738A>T (TTN) ENSP00000340554.6:p.Tyr25913Phe
ENST00000359218.10:c.77537A>T (TTN) ENSP00000352154.5:p.Tyr25846Phe
ENST00000342175.10:c.77738A>T (TTN) ENSP00000340554.6:p.Tyr25913Phe
ENST00000342992.10:c.96653A>T (TTN) ENSP00000343764.6:p.Tyr32218Phe
ENST00000359218.9:c.77537A>T (TTN) ENSP00000352154.5:p.Tyr25846Phe
ENST00000460472.6:c.77162A>T (TTN) ENSP00000434586.1:p.Tyr25721Phe
ENST00000589042.5:c.104357A>T (TTN) MANE Select ENSP00000467141.1:p.Tyr34786Phe
ENST00000591111.5:c.99434A>T (TTN) ENSP00000465570.1:p.Tyr33145Phe
ENST00000615779.4:c.99434A>T (TTN) ENSP00000483597.1:p.Tyr33145Phe
NM_001256850.1:c.99434A>T (TTN) NP_001243779.1:p.Tyr33145Phe
NM_001267550.2:c.104357A>T (TTN) MANE Select NP_001254479.2:p.Tyr34786Phe
NM_003319.4:c.77162A>T (TTN) NP_003310.4:p.Tyr25721Phe
NM_133378.4:c.96653A>T (TTN) NP_596869.4:p.Tyr32218Phe
NM_133432.3:c.77537A>T (TTN) NP_597676.3:p.Tyr25846Phe
NM_133437.4:c.77738A>T (TTN) NP_597681.4:p.Tyr25913Phe
NR_038271.1:n.446+8622T>A (TTN-AS1)
NR_038272.1:n.220-3474T>A (TTN-AS1)
XM_011511729.1:c.103454A>T (TTN) XP_011510031.1:p.Tyr34485Phe
XM_011511730.1:c.77348A>T (TTN) XP_011510032.1:p.Tyr25783Phe
XM_011511731.1:c.77207A>T (TTN) XP_011510033.1:p.Tyr25736Phe
XM_017004819.1:c.103250A>T (TTN) XP_016860308.1:p.Tyr34417Phe
XM_017004820.1:c.98648A>T (TTN) XP_016860309.1:p.Tyr32883Phe
XM_017004821.1:c.98645A>T (TTN) XP_016860310.1:p.Tyr32882Phe
XM_017004822.1:c.95687A>T (TTN) XP_016860311.1:p.Tyr31896Phe
XM_017004823.1:c.77303A>T (TTN) XP_016860312.1:p.Tyr25768Phe
XM_024453094.1:c.98798A>T (TTN) XP_024308862.1:p.Tyr32933Phe
XM_024453095.1:c.98795A>T (TTN) XP_024308863.1:p.Tyr32932Phe
XM_024453096.1:c.98228A>T (TTN) XP_024308864.1:p.Tyr32743Phe
XM_024453097.1:c.95570A>T (TTN) XP_024308865.1:p.Tyr31857Phe
XM_024453098.1:c.95489A>T (TTN) XP_024308866.1:p.Tyr31830Phe
XM_024453099.1:c.77252A>T (TTN) XP_024308867.1:p.Tyr25751Phe
XM_024453100.1:c.67106A>T (TTN) XP_024308868.1:p.Tyr22369Phe