Canonical Allele Identifier: CA349456022

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544309C>T , CM000664.2:g.178544309C>T GRCh38
NC_000002.11:g.179409036C>T , CM000664.1:g.179409036C>T GRCh37
NC_000002.10:g.179117282C>T NCBI36
NG_011618.3:g.291494G>A , LRG_391:g.291494G>A
NG_051363.1:g.26483C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88216G>A (TTN) ENSP00000343764.6:p.Asp29406Asn
ENST00000342175.11:c.69301G>A (TTN) ENSP00000340554.6:p.Asp23101Asn
ENST00000359218.10:c.69100G>A (TTN) ENSP00000352154.5:p.Asp23034Asn
ENST00000342175.10:c.69301G>A (TTN) ENSP00000340554.6:p.Asp23101Asn
ENST00000342992.10:c.88216G>A (TTN) ENSP00000343764.6:p.Asp29406Asn
ENST00000359218.9:c.69100G>A (TTN) ENSP00000352154.5:p.Asp23034Asn
ENST00000460472.6:c.68725G>A (TTN) ENSP00000434586.1:p.Asp22909Asn
ENST00000589042.5:c.95920G>A (TTN) MANE Select ENSP00000467141.1:p.Asp31974Asn
ENST00000591111.5:c.90997G>A (TTN) ENSP00000465570.1:p.Asp30333Asn
ENST00000615779.4:c.90997G>A (TTN) ENSP00000483597.1:p.Asp30333Asn
NM_001256850.1:c.90997G>A (TTN) NP_001243779.1:p.Asp30333Asn
NM_001267550.2:c.95920G>A (TTN) MANE Select NP_001254479.2:p.Asp31974Asn
NM_003319.4:c.68725G>A (TTN) NP_003310.4:p.Asp22909Asn
NM_133378.4:c.88216G>A (TTN) NP_596869.4:p.Asp29406Asn
NM_133432.3:c.69100G>A (TTN) NP_597676.3:p.Asp23034Asn
NM_133437.4:c.69301G>A (TTN) NP_597681.4:p.Asp23101Asn
NR_038271.1:n.446+20673C>T (TTN-AS1)
NR_038272.1:n.2043+1948C>T (TTN-AS1)
XM_011511729.1:c.95017G>A (TTN) XP_011510031.1:p.Asp31673Asn
XM_011511730.1:c.68911G>A (TTN) XP_011510032.1:p.Asp22971Asn
XM_011511731.1:c.68770G>A (TTN) XP_011510033.1:p.Asp22924Asn
XM_017004819.1:c.94813G>A (TTN) XP_016860308.1:p.Asp31605Asn
XM_017004820.1:c.90211G>A (TTN) XP_016860309.1:p.Asp30071Asn
XM_017004821.1:c.90208G>A (TTN) XP_016860310.1:p.Asp30070Asn
XM_017004822.1:c.87250G>A (TTN) XP_016860311.1:p.Asp29084Asn
XM_017004823.1:c.68866G>A (TTN) XP_016860312.1:p.Asp22956Asn
XM_024453094.1:c.90361G>A (TTN) XP_024308862.1:p.Asp30121Asn
XM_024453095.1:c.90358G>A (TTN) XP_024308863.1:p.Asp30120Asn
XM_024453096.1:c.89791G>A (TTN) XP_024308864.1:p.Asp29931Asn
XM_024453097.1:c.87133G>A (TTN) XP_024308865.1:p.Asp29045Asn
XM_024453098.1:c.87052G>A (TTN) XP_024308866.1:p.Asp29018Asn
XM_024453099.1:c.68815G>A (TTN) XP_024308867.1:p.Asp22939Asn
XM_024453100.1:c.58669G>A (TTN) XP_024308868.1:p.Asp19557Asn