Canonical Allele Identifier: CA349455604

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544264T>A , CM000664.2:g.178544264T>A GRCh38
NC_000002.11:g.179408991T>A , CM000664.1:g.179408991T>A GRCh37
NC_000002.10:g.179117237T>A NCBI36
NG_011618.3:g.291539A>T , LRG_391:g.291539A>T
NG_051363.1:g.26438T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88261A>T (TTN) ENSP00000343764.6:p.Asn29421Tyr
ENST00000342175.11:c.69346A>T (TTN) ENSP00000340554.6:p.Asn23116Tyr
ENST00000359218.10:c.69145A>T (TTN) ENSP00000352154.5:p.Asn23049Tyr
ENST00000342175.10:c.69346A>T (TTN) ENSP00000340554.6:p.Asn23116Tyr
ENST00000342992.10:c.88261A>T (TTN) ENSP00000343764.6:p.Asn29421Tyr
ENST00000359218.9:c.69145A>T (TTN) ENSP00000352154.5:p.Asn23049Tyr
ENST00000460472.6:c.68770A>T (TTN) ENSP00000434586.1:p.Asn22924Tyr
ENST00000589042.5:c.95965A>T (TTN) MANE Select ENSP00000467141.1:p.Asn31989Tyr
ENST00000591111.5:c.91042A>T (TTN) ENSP00000465570.1:p.Asn30348Tyr
ENST00000615779.4:c.91042A>T (TTN) ENSP00000483597.1:p.Asn30348Tyr
NM_001256850.1:c.91042A>T (TTN) NP_001243779.1:p.Asn30348Tyr
NM_001267550.2:c.95965A>T (TTN) MANE Select NP_001254479.2:p.Asn31989Tyr
NM_003319.4:c.68770A>T (TTN) NP_003310.4:p.Asn22924Tyr
NM_133378.4:c.88261A>T (TTN) NP_596869.4:p.Asn29421Tyr
NM_133432.3:c.69145A>T (TTN) NP_597676.3:p.Asn23049Tyr
NM_133437.4:c.69346A>T (TTN) NP_597681.4:p.Asn23116Tyr
NR_038271.1:n.446+20628T>A (TTN-AS1)
NR_038272.1:n.2043+1903T>A (TTN-AS1)
XM_011511729.1:c.95062A>T (TTN) XP_011510031.1:p.Asn31688Tyr
XM_011511730.1:c.68956A>T (TTN) XP_011510032.1:p.Asn22986Tyr
XM_011511731.1:c.68815A>T (TTN) XP_011510033.1:p.Asn22939Tyr
XM_017004819.1:c.94858A>T (TTN) XP_016860308.1:p.Asn31620Tyr
XM_017004820.1:c.90256A>T (TTN) XP_016860309.1:p.Asn30086Tyr
XM_017004821.1:c.90253A>T (TTN) XP_016860310.1:p.Asn30085Tyr
XM_017004822.1:c.87295A>T (TTN) XP_016860311.1:p.Asn29099Tyr
XM_017004823.1:c.68911A>T (TTN) XP_016860312.1:p.Asn22971Tyr
XM_024453094.1:c.90406A>T (TTN) XP_024308862.1:p.Asn30136Tyr
XM_024453095.1:c.90403A>T (TTN) XP_024308863.1:p.Asn30135Tyr
XM_024453096.1:c.89836A>T (TTN) XP_024308864.1:p.Asn29946Tyr
XM_024453097.1:c.87178A>T (TTN) XP_024308865.1:p.Asn29060Tyr
XM_024453098.1:c.87097A>T (TTN) XP_024308866.1:p.Asn29033Tyr
XM_024453099.1:c.68860A>T (TTN) XP_024308867.1:p.Asn22954Tyr
XM_024453100.1:c.58714A>T (TTN) XP_024308868.1:p.Asn19572Tyr