Canonical Allele Identifier: CA349450158

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543834C>T , CM000664.2:g.178543834C>T GRCh38
NC_000002.11:g.179408561C>T , CM000664.1:g.179408561C>T GRCh37
NC_000002.10:g.179116807C>T NCBI36
NG_011618.3:g.291969G>A , LRG_391:g.291969G>A
NG_051363.1:g.26008C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88606G>A (TTN) ENSP00000343764.6:p.Asp29536Asn
ENST00000342175.11:c.69691G>A (TTN) ENSP00000340554.6:p.Asp23231Asn
ENST00000359218.10:c.69490G>A (TTN) ENSP00000352154.5:p.Asp23164Asn
ENST00000342175.10:c.69691G>A (TTN) ENSP00000340554.6:p.Asp23231Asn
ENST00000342992.10:c.88606G>A (TTN) ENSP00000343764.6:p.Asp29536Asn
ENST00000359218.9:c.69490G>A (TTN) ENSP00000352154.5:p.Asp23164Asn
ENST00000460472.6:c.69115G>A (TTN) ENSP00000434586.1:p.Asp23039Asn
ENST00000589042.5:c.96310G>A (TTN) MANE Select ENSP00000467141.1:p.Asp32104Asn
ENST00000591111.5:c.91387G>A (TTN) ENSP00000465570.1:p.Asp30463Asn
ENST00000615779.4:c.91387G>A (TTN) ENSP00000483597.1:p.Asp30463Asn
NM_001256850.1:c.91387G>A (TTN) NP_001243779.1:p.Asp30463Asn
NM_001267550.2:c.96310G>A (TTN) MANE Select NP_001254479.2:p.Asp32104Asn
NM_003319.4:c.69115G>A (TTN) NP_003310.4:p.Asp23039Asn
NM_133378.4:c.88606G>A (TTN) NP_596869.4:p.Asp29536Asn
NM_133432.3:c.69490G>A (TTN) NP_597676.3:p.Asp23164Asn
NM_133437.4:c.69691G>A (TTN) NP_597681.4:p.Asp23231Asn
NR_038271.1:n.446+20198C>T (TTN-AS1)
NR_038272.1:n.2043+1473C>T (TTN-AS1)
XM_011511729.1:c.95407G>A (TTN) XP_011510031.1:p.Asp31803Asn
XM_011511730.1:c.69301G>A (TTN) XP_011510032.1:p.Asp23101Asn
XM_011511731.1:c.69160G>A (TTN) XP_011510033.1:p.Asp23054Asn
XM_017004819.1:c.95203G>A (TTN) XP_016860308.1:p.Asp31735Asn
XM_017004820.1:c.90601G>A (TTN) XP_016860309.1:p.Asp30201Asn
XM_017004821.1:c.90598G>A (TTN) XP_016860310.1:p.Asp30200Asn
XM_017004822.1:c.87640G>A (TTN) XP_016860311.1:p.Asp29214Asn
XM_017004823.1:c.69256G>A (TTN) XP_016860312.1:p.Asp23086Asn
XM_024453094.1:c.90751G>A (TTN) XP_024308862.1:p.Asp30251Asn
XM_024453095.1:c.90748G>A (TTN) XP_024308863.1:p.Asp30250Asn
XM_024453096.1:c.90181G>A (TTN) XP_024308864.1:p.Asp30061Asn
XM_024453097.1:c.87523G>A (TTN) XP_024308865.1:p.Asp29175Asn
XM_024453098.1:c.87442G>A (TTN) XP_024308866.1:p.Asp29148Asn
XM_024453099.1:c.69205G>A (TTN) XP_024308867.1:p.Asp23069Asn
XM_024453100.1:c.59059G>A (TTN) XP_024308868.1:p.Asp19687Asn