Canonical Allele Identifier: CA349405908

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530260A>T , CM000664.2:g.178530260A>T GRCh38
NC_000002.11:g.179394987A>T , CM000664.1:g.179394987A>T GRCh37
NC_000002.10:g.179103233A>T NCBI36
NG_011618.3:g.305543T>A , LRG_391:g.305543T>A
NG_051363.1:g.12434A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98651T>A (TTN) ENSP00000343764.6:p.Ile32884Asn
ENST00000342175.11:c.79736T>A (TTN) ENSP00000340554.6:p.Ile26579Asn
ENST00000359218.10:c.79535T>A (TTN) ENSP00000352154.5:p.Ile26512Asn
ENST00000342175.10:c.79736T>A (TTN) ENSP00000340554.6:p.Ile26579Asn
ENST00000342992.10:c.98651T>A (TTN) ENSP00000343764.6:p.Ile32884Asn
ENST00000359218.9:c.79535T>A (TTN) ENSP00000352154.5:p.Ile26512Asn
ENST00000460472.6:c.79160T>A (TTN) ENSP00000434586.1:p.Ile26387Asn
ENST00000589042.5:c.106355T>A (TTN) MANE Select ENSP00000467141.1:p.Ile35452Asn
ENST00000591111.5:c.101432T>A (TTN) ENSP00000465570.1:p.Ile33811Asn
ENST00000615779.4:c.101432T>A (TTN) ENSP00000483597.1:p.Ile33811Asn
NM_001256850.1:c.101432T>A (TTN) NP_001243779.1:p.Ile33811Asn
NM_001267550.2:c.106355T>A (TTN) MANE Select NP_001254479.2:p.Ile35452Asn
NM_003319.4:c.79160T>A (TTN) NP_003310.4:p.Ile26387Asn
NM_133378.4:c.98651T>A (TTN) NP_596869.4:p.Ile32884Asn
NM_133432.3:c.79535T>A (TTN) NP_597676.3:p.Ile26512Asn
NM_133437.4:c.79736T>A (TTN) NP_597681.4:p.Ile26579Asn
NR_038271.1:n.446+6624A>T (TTN-AS1)
NR_038272.1:n.220-5472A>T (TTN-AS1)
XM_011511729.1:c.105452T>A (TTN) XP_011510031.1:p.Ile35151Asn
XM_011511730.1:c.79346T>A (TTN) XP_011510032.1:p.Ile26449Asn
XM_011511731.1:c.79205T>A (TTN) XP_011510033.1:p.Ile26402Asn
XM_017004819.1:c.105248T>A (TTN) XP_016860308.1:p.Ile35083Asn
XM_017004820.1:c.100646T>A (TTN) XP_016860309.1:p.Ile33549Asn
XM_017004821.1:c.100643T>A (TTN) XP_016860310.1:p.Ile33548Asn
XM_017004822.1:c.97685T>A (TTN) XP_016860311.1:p.Ile32562Asn
XM_017004823.1:c.79301T>A (TTN) XP_016860312.1:p.Ile26434Asn
XM_024453094.1:c.100796T>A (TTN) XP_024308862.1:p.Ile33599Asn
XM_024453095.1:c.100793T>A (TTN) XP_024308863.1:p.Ile33598Asn
XM_024453096.1:c.100226T>A (TTN) XP_024308864.1:p.Ile33409Asn
XM_024453097.1:c.97568T>A (TTN) XP_024308865.1:p.Ile32523Asn
XM_024453098.1:c.97487T>A (TTN) XP_024308866.1:p.Ile32496Asn
XM_024453099.1:c.79250T>A (TTN) XP_024308867.1:p.Ile26417Asn
XM_024453100.1:c.69104T>A (TTN) XP_024308868.1:p.Ile23035Asn