Canonical Allele Identifier: CA1989796

Linked Data

ClinVar Variation Id: 518969
dbSNP Id: rs541266544

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178568830G>T , CM000664.2:g.178568830G>T GRCh38
NC_000002.11:g.179433557G>T , CM000664.1:g.179433557G>T GRCh37
NC_000002.10:g.179141803G>T NCBI36
NG_011618.3:g.266973C>A , LRG_391:g.266973C>A
NG_051363.1:g.51004G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.69598C>A (TTN) ENSP00000343764.6:p.Leu23200Ile
ENST00000342175.11:c.50683C>A (TTN) ENSP00000340554.6:p.Leu16895Ile
ENST00000359218.10:c.50482C>A (TTN) ENSP00000352154.5:p.Leu16828Ile
ENST00000342175.10:c.50683C>A (TTN) ENSP00000340554.6:p.Leu16895Ile
ENST00000342992.10:c.69598C>A (TTN) ENSP00000343764.6:p.Leu23200Ile
ENST00000359218.9:c.50482C>A (TTN) ENSP00000352154.5:p.Leu16828Ile
ENST00000460472.6:c.50107C>A (TTN) ENSP00000434586.1:p.Leu16703Ile
ENST00000589042.5:c.77302C>A (TTN) MANE Select ENSP00000467141.1:p.Leu25768Ile
ENST00000591111.5:c.72379C>A (TTN) ENSP00000465570.1:p.Leu24127Ile
ENST00000615779.4:c.72379C>A (TTN) ENSP00000483597.1:p.Leu24127Ile
NM_001256850.1:c.72379C>A (TTN) NP_001243779.1:p.Leu24127Ile
NM_001267550.2:c.77302C>A (TTN) MANE Select NP_001254479.2:p.Leu25768Ile
NM_003319.4:c.50107C>A (TTN) NP_003310.4:p.Leu16703Ile
NM_133378.4:c.69598C>A (TTN) NP_596869.4:p.Leu23200Ile
NM_133432.3:c.50482C>A (TTN) NP_597676.3:p.Leu16828Ile
NM_133437.4:c.50683C>A (TTN) NP_597681.4:p.Leu16895Ile
NR_038271.1:n.447-2470G>T (TTN-AS1)
NR_038272.1:n.2044-13742G>T (TTN-AS1)
XM_011511729.1:c.76399C>A (TTN) XP_011510031.1:p.Leu25467Ile
XM_011511730.1:c.50293C>A (TTN) XP_011510032.1:p.Leu16765Ile
XM_011511731.1:c.50152C>A (TTN) XP_011510033.1:p.Leu16718Ile
XM_017004819.1:c.76195C>A (TTN) XP_016860308.1:p.Leu25399Ile
XM_017004820.1:c.71593C>A (TTN) XP_016860309.1:p.Leu23865Ile
XM_017004821.1:c.71590C>A (TTN) XP_016860310.1:p.Leu23864Ile
XM_017004822.1:c.68632C>A (TTN) XP_016860311.1:p.Leu22878Ile
XM_017004823.1:c.50248C>A (TTN) XP_016860312.1:p.Leu16750Ile
XM_024453094.1:c.71743C>A (TTN) XP_024308862.1:p.Leu23915Ile
XM_024453095.1:c.71740C>A (TTN) XP_024308863.1:p.Leu23914Ile
XM_024453096.1:c.71173C>A (TTN) XP_024308864.1:p.Leu23725Ile
XM_024453097.1:c.68515C>A (TTN) XP_024308865.1:p.Leu22839Ile
XM_024453098.1:c.68434C>A (TTN) XP_024308866.1:p.Leu22812Ile
XM_024453099.1:c.50197C>A (TTN) XP_024308867.1:p.Leu16733Ile
XM_024453100.1:c.40051C>A (TTN) XP_024308868.1:p.Leu13351Ile