Canonical Allele Identifier: CA349495490

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178549759A>T , CM000664.2:g.178549759A>T GRCh38
NC_000002.11:g.179414486A>T , CM000664.1:g.179414486A>T GRCh37
NC_000002.10:g.179122732A>T NCBI36
NG_011618.3:g.286044T>A , LRG_391:g.286044T>A
NG_051363.1:g.31933A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.84259T>A (TTN) ENSP00000343764.6:p.Tyr28087Asn
ENST00000342175.11:c.65344T>A (TTN) ENSP00000340554.6:p.Tyr21782Asn
ENST00000359218.10:c.65143T>A (TTN) ENSP00000352154.5:p.Tyr21715Asn
ENST00000342175.10:c.65344T>A (TTN) ENSP00000340554.6:p.Tyr21782Asn
ENST00000342992.10:c.84259T>A (TTN) ENSP00000343764.6:p.Tyr28087Asn
ENST00000359218.9:c.65143T>A (TTN) ENSP00000352154.5:p.Tyr21715Asn
ENST00000460472.6:c.64768T>A (TTN) ENSP00000434586.1:p.Tyr21590Asn
ENST00000589042.5:c.91963T>A (TTN) MANE Select ENSP00000467141.1:p.Tyr30655Asn
ENST00000591111.5:c.87040T>A (TTN) ENSP00000465570.1:p.Tyr29014Asn
ENST00000615779.4:c.87040T>A (TTN) ENSP00000483597.1:p.Tyr29014Asn
NM_001256850.1:c.87040T>A (TTN) NP_001243779.1:p.Tyr29014Asn
NM_001267550.2:c.91963T>A (TTN) MANE Select NP_001254479.2:p.Tyr30655Asn
NM_003319.4:c.64768T>A (TTN) NP_003310.4:p.Tyr21590Asn
NM_133378.4:c.84259T>A (TTN) NP_596869.4:p.Tyr28087Asn
NM_133432.3:c.65143T>A (TTN) NP_597676.3:p.Tyr21715Asn
NM_133437.4:c.65344T>A (TTN) NP_597681.4:p.Tyr21782Asn
NR_038271.1:n.447-21541A>T (TTN-AS1)
NR_038272.1:n.2043+7398A>T (TTN-AS1)
XM_011511729.1:c.91060T>A (TTN) XP_011510031.1:p.Tyr30354Asn
XM_011511730.1:c.64954T>A (TTN) XP_011510032.1:p.Tyr21652Asn
XM_011511731.1:c.64813T>A (TTN) XP_011510033.1:p.Tyr21605Asn
XM_017004819.1:c.90856T>A (TTN) XP_016860308.1:p.Tyr30286Asn
XM_017004820.1:c.86254T>A (TTN) XP_016860309.1:p.Tyr28752Asn
XM_017004821.1:c.86251T>A (TTN) XP_016860310.1:p.Tyr28751Asn
XM_017004822.1:c.83293T>A (TTN) XP_016860311.1:p.Tyr27765Asn
XM_017004823.1:c.64909T>A (TTN) XP_016860312.1:p.Tyr21637Asn
XM_024453094.1:c.86404T>A (TTN) XP_024308862.1:p.Tyr28802Asn
XM_024453095.1:c.86401T>A (TTN) XP_024308863.1:p.Tyr28801Asn
XM_024453096.1:c.85834T>A (TTN) XP_024308864.1:p.Tyr28612Asn
XM_024453097.1:c.83176T>A (TTN) XP_024308865.1:p.Tyr27726Asn
XM_024453098.1:c.83095T>A (TTN) XP_024308866.1:p.Tyr27699Asn
XM_024453099.1:c.64858T>A (TTN) XP_024308867.1:p.Tyr21620Asn
XM_024453100.1:c.54712T>A (TTN) XP_024308868.1:p.Tyr18238Asn