Canonical Allele Identifier: CA349471344

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546747A>T , CM000664.2:g.178546747A>T GRCh38
NC_000002.11:g.179411474A>T , CM000664.1:g.179411474A>T GRCh37
NC_000002.10:g.179119720A>T NCBI36
NG_011618.3:g.289056T>A , LRG_391:g.289056T>A
NG_051363.1:g.28921A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.86977T>A (TTN) ENSP00000343764.6:p.Tyr28993Asn
ENST00000342175.11:c.68062T>A (TTN) ENSP00000340554.6:p.Tyr22688Asn
ENST00000359218.10:c.67861T>A (TTN) ENSP00000352154.5:p.Tyr22621Asn
ENST00000342175.10:c.68062T>A (TTN) ENSP00000340554.6:p.Tyr22688Asn
ENST00000342992.10:c.86977T>A (TTN) ENSP00000343764.6:p.Tyr28993Asn
ENST00000359218.9:c.67861T>A (TTN) ENSP00000352154.5:p.Tyr22621Asn
ENST00000460472.6:c.67486T>A (TTN) ENSP00000434586.1:p.Tyr22496Asn
ENST00000589042.5:c.94681T>A (TTN) MANE Select ENSP00000467141.1:p.Tyr31561Asn
ENST00000591111.5:c.89758T>A (TTN) ENSP00000465570.1:p.Tyr29920Asn
ENST00000615779.4:c.89758T>A (TTN) ENSP00000483597.1:p.Tyr29920Asn
NM_001256850.1:c.89758T>A (TTN) NP_001243779.1:p.Tyr29920Asn
NM_001267550.2:c.94681T>A (TTN) MANE Select NP_001254479.2:p.Tyr31561Asn
NM_003319.4:c.67486T>A (TTN) NP_003310.4:p.Tyr22496Asn
NM_133378.4:c.86977T>A (TTN) NP_596869.4:p.Tyr28993Asn
NM_133432.3:c.67861T>A (TTN) NP_597676.3:p.Tyr22621Asn
NM_133437.4:c.68062T>A (TTN) NP_597681.4:p.Tyr22688Asn
NR_038271.1:n.446+23111A>T (TTN-AS1)
NR_038272.1:n.2043+4386A>T (TTN-AS1)
XM_011511729.1:c.93778T>A (TTN) XP_011510031.1:p.Tyr31260Asn
XM_011511730.1:c.67672T>A (TTN) XP_011510032.1:p.Tyr22558Asn
XM_011511731.1:c.67531T>A (TTN) XP_011510033.1:p.Tyr22511Asn
XM_017004819.1:c.93574T>A (TTN) XP_016860308.1:p.Tyr31192Asn
XM_017004820.1:c.88972T>A (TTN) XP_016860309.1:p.Tyr29658Asn
XM_017004821.1:c.88969T>A (TTN) XP_016860310.1:p.Tyr29657Asn
XM_017004822.1:c.86011T>A (TTN) XP_016860311.1:p.Tyr28671Asn
XM_017004823.1:c.67627T>A (TTN) XP_016860312.1:p.Tyr22543Asn
XM_024453094.1:c.89122T>A (TTN) XP_024308862.1:p.Tyr29708Asn
XM_024453095.1:c.89119T>A (TTN) XP_024308863.1:p.Tyr29707Asn
XM_024453096.1:c.88552T>A (TTN) XP_024308864.1:p.Tyr29518Asn
XM_024453097.1:c.85894T>A (TTN) XP_024308865.1:p.Tyr28632Asn
XM_024453098.1:c.85813T>A (TTN) XP_024308866.1:p.Tyr28605Asn
XM_024453099.1:c.67576T>A (TTN) XP_024308867.1:p.Tyr22526Asn
XM_024453100.1:c.57430T>A (TTN) XP_024308868.1:p.Tyr19144Asn