Canonical Allele Identifier: CA349622433

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618779A>T , CM000664.2:g.178618779A>T GRCh38
NC_000002.11:g.179483506A>T , CM000664.1:g.179483506A>T GRCh37
NC_000002.10:g.179191751A>T NCBI36
NG_011618.3:g.217024T>A , LRG_391:g.217024T>A
NG_051363.1:g.100953A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.39067T>A (TTN) ENSP00000343764.6:p.Tyr13023Asn
ENST00000342175.11:c.20152T>A (TTN) ENSP00000340554.6:p.Tyr6718Asn
ENST00000359218.10:c.19951T>A (TTN) ENSP00000352154.5:p.Tyr6651Asn
ENST00000342175.10:c.20152T>A (TTN) ENSP00000340554.6:p.Tyr6718Asn
ENST00000342992.10:c.39067T>A (TTN) ENSP00000343764.6:p.Tyr13023Asn
ENST00000359218.9:c.19951T>A (TTN) ENSP00000352154.5:p.Tyr6651Asn
ENST00000460472.6:c.19576T>A (TTN) ENSP00000434586.1:p.Tyr6526Asn
ENST00000589042.5:c.46771T>A (TTN) MANE Select ENSP00000467141.1:p.Tyr15591Asn
ENST00000591111.5:c.41848T>A (TTN) ENSP00000465570.1:p.Tyr13950Asn
ENST00000615779.4:c.41848T>A (TTN) ENSP00000483597.1:p.Tyr13950Asn
NM_001256850.1:c.41848T>A (TTN) NP_001243779.1:p.Tyr13950Asn
NM_001267550.2:c.46771T>A (TTN) MANE Select NP_001254479.2:p.Tyr15591Asn
NM_003319.4:c.19576T>A (TTN) NP_003310.4:p.Tyr6526Asn
NM_133378.4:c.39067T>A (TTN) NP_596869.4:p.Tyr13023Asn
NM_133432.3:c.19951T>A (TTN) NP_597676.3:p.Tyr6651Asn
NM_133437.4:c.20152T>A (TTN) NP_597681.4:p.Tyr6718Asn
NR_038271.1:n.1605-974A>T (TTN-AS1)
XM_011511729.1:c.45868T>A (TTN) XP_011510031.1:p.Tyr15290Asn
XM_011511730.1:c.19762T>A (TTN) XP_011510032.1:p.Tyr6588Asn
XM_011511731.1:c.19621T>A (TTN) XP_011510033.1:p.Tyr6541Asn
XM_017004819.1:c.45664T>A (TTN) XP_016860308.1:p.Tyr15222Asn
XM_017004820.1:c.41062T>A (TTN) XP_016860309.1:p.Tyr13688Asn
XM_017004821.1:c.41059T>A (TTN) XP_016860310.1:p.Tyr13687Asn
XM_017004822.1:c.38101T>A (TTN) XP_016860311.1:p.Tyr12701Asn
XM_017004823.1:c.19717T>A (TTN) XP_016860312.1:p.Tyr6573Asn
XM_024453094.1:c.41212T>A (TTN) XP_024308862.1:p.Tyr13738Asn
XM_024453095.1:c.41209T>A (TTN) XP_024308863.1:p.Tyr13737Asn
XM_024453096.1:c.40642T>A (TTN) XP_024308864.1:p.Tyr13548Asn
XM_024453097.1:c.37984T>A (TTN) XP_024308865.1:p.Tyr12662Asn
XM_024453098.1:c.37903T>A (TTN) XP_024308866.1:p.Tyr12635Asn
XM_024453099.1:c.19666T>A (TTN) XP_024308867.1:p.Tyr6556Asn
XM_024453100.1:c.9520T>A (TTN) XP_024308868.1:p.Tyr3174Asn