Canonical Allele Identifier: CA349628239

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178570950A>T , CM000664.2:g.178570950A>T GRCh38
NC_000002.11:g.179435677A>T , CM000664.1:g.179435677A>T GRCh37
NC_000002.10:g.179143923A>T NCBI36
NG_011618.3:g.264853T>A , LRG_391:g.264853T>A
NG_051363.1:g.53124A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.67478T>A (TTN) ENSP00000343764.6:p.Ile22493Asn
ENST00000342175.11:c.48563T>A (TTN) ENSP00000340554.6:p.Ile16188Asn
ENST00000359218.10:c.48362T>A (TTN) ENSP00000352154.5:p.Ile16121Asn
ENST00000342175.10:c.48563T>A (TTN) ENSP00000340554.6:p.Ile16188Asn
ENST00000342992.10:c.67478T>A (TTN) ENSP00000343764.6:p.Ile22493Asn
ENST00000359218.9:c.48362T>A (TTN) ENSP00000352154.5:p.Ile16121Asn
ENST00000460472.6:c.47987T>A (TTN) ENSP00000434586.1:p.Ile15996Asn
ENST00000589042.5:c.75182T>A (TTN) MANE Select ENSP00000467141.1:p.Ile25061Asn
ENST00000591111.5:c.70259T>A (TTN) ENSP00000465570.1:p.Ile23420Asn
ENST00000615779.4:c.70259T>A (TTN) ENSP00000483597.1:p.Ile23420Asn
NM_001256850.1:c.70259T>A (TTN) NP_001243779.1:p.Ile23420Asn
NM_001267550.2:c.75182T>A (TTN) MANE Select NP_001254479.2:p.Ile25061Asn
NM_003319.4:c.47987T>A (TTN) NP_003310.4:p.Ile15996Asn
NM_133378.4:c.67478T>A (TTN) NP_596869.4:p.Ile22493Asn
NM_133432.3:c.48362T>A (TTN) NP_597676.3:p.Ile16121Asn
NM_133437.4:c.48563T>A (TTN) NP_597681.4:p.Ile16188Asn
NR_038271.1:n.447-350A>T (TTN-AS1)
NR_038272.1:n.2044-11622A>T (TTN-AS1)
XM_011511729.1:c.74279T>A (TTN) XP_011510031.1:p.Ile24760Asn
XM_011511730.1:c.48173T>A (TTN) XP_011510032.1:p.Ile16058Asn
XM_011511731.1:c.48032T>A (TTN) XP_011510033.1:p.Ile16011Asn
XM_017004819.1:c.74075T>A (TTN) XP_016860308.1:p.Ile24692Asn
XM_017004820.1:c.69473T>A (TTN) XP_016860309.1:p.Ile23158Asn
XM_017004821.1:c.69470T>A (TTN) XP_016860310.1:p.Ile23157Asn
XM_017004822.1:c.66512T>A (TTN) XP_016860311.1:p.Ile22171Asn
XM_017004823.1:c.48128T>A (TTN) XP_016860312.1:p.Ile16043Asn
XM_024453094.1:c.69623T>A (TTN) XP_024308862.1:p.Ile23208Asn
XM_024453095.1:c.69620T>A (TTN) XP_024308863.1:p.Ile23207Asn
XM_024453096.1:c.69053T>A (TTN) XP_024308864.1:p.Ile23018Asn
XM_024453097.1:c.66395T>A (TTN) XP_024308865.1:p.Ile22132Asn
XM_024453098.1:c.66314T>A (TTN) XP_024308866.1:p.Ile22105Asn
XM_024453099.1:c.48077T>A (TTN) XP_024308867.1:p.Ile16026Asn
XM_024453100.1:c.37931T>A (TTN) XP_024308868.1:p.Ile12644Asn