Canonical Allele Identifier: CA349467473

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546308T>A , CM000664.2:g.178546308T>A GRCh38
NC_000002.11:g.179411035T>A , CM000664.1:g.179411035T>A GRCh37
NC_000002.10:g.179119281T>A NCBI36
NG_011618.3:g.289495A>T , LRG_391:g.289495A>T
NG_051363.1:g.28482T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.87319A>T (TTN) ENSP00000343764.6:p.Ile29107Phe
ENST00000342175.11:c.68404A>T (TTN) ENSP00000340554.6:p.Ile22802Phe
ENST00000359218.10:c.68203A>T (TTN) ENSP00000352154.5:p.Ile22735Phe
ENST00000342175.10:c.68404A>T (TTN) ENSP00000340554.6:p.Ile22802Phe
ENST00000342992.10:c.87319A>T (TTN) ENSP00000343764.6:p.Ile29107Phe
ENST00000359218.9:c.68203A>T (TTN) ENSP00000352154.5:p.Ile22735Phe
ENST00000460472.6:c.67828A>T (TTN) ENSP00000434586.1:p.Ile22610Phe
ENST00000589042.5:c.95023A>T (TTN) MANE Select ENSP00000467141.1:p.Ile31675Phe
ENST00000591111.5:c.90100A>T (TTN) ENSP00000465570.1:p.Ile30034Phe
ENST00000615779.4:c.90100A>T (TTN) ENSP00000483597.1:p.Ile30034Phe
NM_001256850.1:c.90100A>T (TTN) NP_001243779.1:p.Ile30034Phe
NM_001267550.2:c.95023A>T (TTN) MANE Select NP_001254479.2:p.Ile31675Phe
NM_003319.4:c.67828A>T (TTN) NP_003310.4:p.Ile22610Phe
NM_133378.4:c.87319A>T (TTN) NP_596869.4:p.Ile29107Phe
NM_133432.3:c.68203A>T (TTN) NP_597676.3:p.Ile22735Phe
NM_133437.4:c.68404A>T (TTN) NP_597681.4:p.Ile22802Phe
NR_038271.1:n.446+22672T>A (TTN-AS1)
NR_038272.1:n.2043+3947T>A (TTN-AS1)
XM_011511729.1:c.94120A>T (TTN) XP_011510031.1:p.Ile31374Phe
XM_011511730.1:c.68014A>T (TTN) XP_011510032.1:p.Ile22672Phe
XM_011511731.1:c.67873A>T (TTN) XP_011510033.1:p.Ile22625Phe
XM_017004819.1:c.93916A>T (TTN) XP_016860308.1:p.Ile31306Phe
XM_017004820.1:c.89314A>T (TTN) XP_016860309.1:p.Ile29772Phe
XM_017004821.1:c.89311A>T (TTN) XP_016860310.1:p.Ile29771Phe
XM_017004822.1:c.86353A>T (TTN) XP_016860311.1:p.Ile28785Phe
XM_017004823.1:c.67969A>T (TTN) XP_016860312.1:p.Ile22657Phe
XM_024453094.1:c.89464A>T (TTN) XP_024308862.1:p.Ile29822Phe
XM_024453095.1:c.89461A>T (TTN) XP_024308863.1:p.Ile29821Phe
XM_024453096.1:c.88894A>T (TTN) XP_024308864.1:p.Ile29632Phe
XM_024453097.1:c.86236A>T (TTN) XP_024308865.1:p.Ile28746Phe
XM_024453098.1:c.86155A>T (TTN) XP_024308866.1:p.Ile28719Phe
XM_024453099.1:c.67918A>T (TTN) XP_024308867.1:p.Ile22640Phe
XM_024453100.1:c.57772A>T (TTN) XP_024308868.1:p.Ile19258Phe