Canonical Allele Identifier: CA349500188

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178593234A>T , CM000664.2:g.178593234A>T GRCh38
NC_000002.11:g.179457961A>T , CM000664.1:g.179457961A>T GRCh37
NC_000002.10:g.179166207A>T NCBI36
NG_011618.3:g.242569T>A , LRG_391:g.242569T>A
NG_051363.1:g.75408A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.51270T>A (TTN) ENSP00000343764.6:p.Asn17090Lys
ENST00000342175.11:c.32355T>A (TTN) ENSP00000340554.6:p.Asn10785Lys
ENST00000359218.10:c.32154T>A (TTN) ENSP00000352154.5:p.Asn10718Lys
ENST00000342175.10:c.32355T>A (TTN) ENSP00000340554.6:p.Asn10785Lys
ENST00000342992.10:c.51270T>A (TTN) ENSP00000343764.6:p.Asn17090Lys
ENST00000359218.9:c.32154T>A (TTN) ENSP00000352154.5:p.Asn10718Lys
ENST00000460472.6:c.31779T>A (TTN) ENSP00000434586.1:p.Asn10593Lys
ENST00000589042.5:c.58974T>A (TTN) MANE Select ENSP00000467141.1:p.Asn19658Lys
ENST00000591111.5:c.54051T>A (TTN) ENSP00000465570.1:p.Asn18017Lys
ENST00000615779.4:c.54051T>A (TTN) ENSP00000483597.1:p.Asn18017Lys
NM_001256850.1:c.54051T>A (TTN) NP_001243779.1:p.Asn18017Lys
NM_001267550.2:c.58974T>A (TTN) MANE Select NP_001254479.2:p.Asn19658Lys
NM_003319.4:c.31779T>A (TTN) NP_003310.4:p.Asn10593Lys
NM_133378.4:c.51270T>A (TTN) NP_596869.4:p.Asn17090Lys
NM_133432.3:c.32154T>A (TTN) NP_597676.3:p.Asn10718Lys
NM_133437.4:c.32355T>A (TTN) NP_597681.4:p.Asn10785Lys
NR_038271.1:n.597-4362A>T (TTN-AS1)
NR_038272.1:n.3364+1920A>T (TTN-AS1)
XM_011511729.1:c.58071T>A (TTN) XP_011510031.1:p.Asn19357Lys
XM_011511730.1:c.31965T>A (TTN) XP_011510032.1:p.Asn10655Lys
XM_011511731.1:c.31824T>A (TTN) XP_011510033.1:p.Asn10608Lys
XM_017004819.1:c.57867T>A (TTN) XP_016860308.1:p.Asn19289Lys
XM_017004820.1:c.53265T>A (TTN) XP_016860309.1:p.Asn17755Lys
XM_017004821.1:c.53262T>A (TTN) XP_016860310.1:p.Asn17754Lys
XM_017004822.1:c.50304T>A (TTN) XP_016860311.1:p.Asn16768Lys
XM_017004823.1:c.31920T>A (TTN) XP_016860312.1:p.Asn10640Lys
XM_024453094.1:c.53415T>A (TTN) XP_024308862.1:p.Asn17805Lys
XM_024453095.1:c.53412T>A (TTN) XP_024308863.1:p.Asn17804Lys
XM_024453096.1:c.52845T>A (TTN) XP_024308864.1:p.Asn17615Lys
XM_024453097.1:c.50187T>A (TTN) XP_024308865.1:p.Asn16729Lys
XM_024453098.1:c.50106T>A (TTN) XP_024308866.1:p.Asn16702Lys
XM_024453099.1:c.31869T>A (TTN) XP_024308867.1:p.Asn10623Lys
XM_024453100.1:c.21723T>A (TTN) XP_024308868.1:p.Asn7241Lys