Canonical Allele Identifier: CA349500121

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178593223A>T , CM000664.2:g.178593223A>T GRCh38
NC_000002.11:g.179457950A>T , CM000664.1:g.179457950A>T GRCh37
NC_000002.10:g.179166196A>T NCBI36
NG_011618.3:g.242580T>A , LRG_391:g.242580T>A
NG_051363.1:g.75397A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.51281T>A (TTN) ENSP00000343764.6:p.Ile17094Asn
ENST00000342175.11:c.32366T>A (TTN) ENSP00000340554.6:p.Ile10789Asn
ENST00000359218.10:c.32165T>A (TTN) ENSP00000352154.5:p.Ile10722Asn
ENST00000342175.10:c.32366T>A (TTN) ENSP00000340554.6:p.Ile10789Asn
ENST00000342992.10:c.51281T>A (TTN) ENSP00000343764.6:p.Ile17094Asn
ENST00000359218.9:c.32165T>A (TTN) ENSP00000352154.5:p.Ile10722Asn
ENST00000460472.6:c.31790T>A (TTN) ENSP00000434586.1:p.Ile10597Asn
ENST00000589042.5:c.58985T>A (TTN) MANE Select ENSP00000467141.1:p.Ile19662Asn
ENST00000591111.5:c.54062T>A (TTN) ENSP00000465570.1:p.Ile18021Asn
ENST00000615779.4:c.54062T>A (TTN) ENSP00000483597.1:p.Ile18021Asn
NM_001256850.1:c.54062T>A (TTN) NP_001243779.1:p.Ile18021Asn
NM_001267550.2:c.58985T>A (TTN) MANE Select NP_001254479.2:p.Ile19662Asn
NM_003319.4:c.31790T>A (TTN) NP_003310.4:p.Ile10597Asn
NM_133378.4:c.51281T>A (TTN) NP_596869.4:p.Ile17094Asn
NM_133432.3:c.32165T>A (TTN) NP_597676.3:p.Ile10722Asn
NM_133437.4:c.32366T>A (TTN) NP_597681.4:p.Ile10789Asn
NR_038271.1:n.597-4373A>T (TTN-AS1)
NR_038272.1:n.3364+1909A>T (TTN-AS1)
XM_011511729.1:c.58082T>A (TTN) XP_011510031.1:p.Ile19361Asn
XM_011511730.1:c.31976T>A (TTN) XP_011510032.1:p.Ile10659Asn
XM_011511731.1:c.31835T>A (TTN) XP_011510033.1:p.Ile10612Asn
XM_017004819.1:c.57878T>A (TTN) XP_016860308.1:p.Ile19293Asn
XM_017004820.1:c.53276T>A (TTN) XP_016860309.1:p.Ile17759Asn
XM_017004821.1:c.53273T>A (TTN) XP_016860310.1:p.Ile17758Asn
XM_017004822.1:c.50315T>A (TTN) XP_016860311.1:p.Ile16772Asn
XM_017004823.1:c.31931T>A (TTN) XP_016860312.1:p.Ile10644Asn
XM_024453094.1:c.53426T>A (TTN) XP_024308862.1:p.Ile17809Asn
XM_024453095.1:c.53423T>A (TTN) XP_024308863.1:p.Ile17808Asn
XM_024453096.1:c.52856T>A (TTN) XP_024308864.1:p.Ile17619Asn
XM_024453097.1:c.50198T>A (TTN) XP_024308865.1:p.Ile16733Asn
XM_024453098.1:c.50117T>A (TTN) XP_024308866.1:p.Ile16706Asn
XM_024453099.1:c.31880T>A (TTN) XP_024308867.1:p.Ile10627Asn
XM_024453100.1:c.21734T>A (TTN) XP_024308868.1:p.Ile7245Asn