Canonical Allele Identifier: CA295743

Linked Data

ClinVar Variation Id: 178188
dbSNP Id: rs374003257

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178570370C>A , CM000664.2:g.178570370C>A GRCh38
NC_000002.11:g.179435097C>A , CM000664.1:g.179435097C>A GRCh37
NC_000002.10:g.179143343C>A NCBI36
NG_011618.3:g.265433G>T , LRG_391:g.265433G>T
NG_051363.1:g.52544C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.68058G>T (TTN) ENSP00000343764.6:p.Val22686=
ENST00000342175.11:c.49143G>T (TTN) ENSP00000340554.6:p.Val16381=
ENST00000359218.10:c.48942G>T (TTN) ENSP00000352154.5:p.Val16314=
ENST00000342175.10:c.49143G>T (TTN) ENSP00000340554.6:p.Val16381=
ENST00000342992.10:c.68058G>T (TTN) ENSP00000343764.6:p.Val22686=
ENST00000359218.9:c.48942G>T (TTN) ENSP00000352154.5:p.Val16314=
ENST00000460472.6:c.48567G>T (TTN) ENSP00000434586.1:p.Val16189=
ENST00000589042.5:c.75762G>T (TTN) MANE Select ENSP00000467141.1:p.Val25254=
ENST00000591111.5:c.70839G>T (TTN) ENSP00000465570.1:p.Val23613=
ENST00000615779.4:c.70839G>T (TTN) ENSP00000483597.1:p.Val23613=
NM_001256850.1:c.70839G>T (TTN) NP_001243779.1:p.Val23613=
NM_001267550.2:c.75762G>T (TTN) MANE Select NP_001254479.2:p.Val25254=
NM_003319.4:c.48567G>T (TTN) NP_003310.4:p.Val16189=
NM_133378.4:c.68058G>T (TTN) NP_596869.4:p.Val22686=
NM_133432.3:c.48942G>T (TTN) NP_597676.3:p.Val16314=
NM_133437.4:c.49143G>T (TTN) NP_597681.4:p.Val16381=
NR_038271.1:n.447-930C>A (TTN-AS1)
NR_038272.1:n.2044-12202C>A (TTN-AS1)
XM_011511729.1:c.74859G>T (TTN) XP_011510031.1:p.Val24953=
XM_011511730.1:c.48753G>T (TTN) XP_011510032.1:p.Val16251=
XM_011511731.1:c.48612G>T (TTN) XP_011510033.1:p.Val16204=
XM_017004819.1:c.74655G>T (TTN) XP_016860308.1:p.Val24885=
XM_017004820.1:c.70053G>T (TTN) XP_016860309.1:p.Val23351=
XM_017004821.1:c.70050G>T (TTN) XP_016860310.1:p.Val23350=
XM_017004822.1:c.67092G>T (TTN) XP_016860311.1:p.Val22364=
XM_017004823.1:c.48708G>T (TTN) XP_016860312.1:p.Val16236=
XM_024453094.1:c.70203G>T (TTN) XP_024308862.1:p.Val23401=
XM_024453095.1:c.70200G>T (TTN) XP_024308863.1:p.Val23400=
XM_024453096.1:c.69633G>T (TTN) XP_024308864.1:p.Val23211=
XM_024453097.1:c.66975G>T (TTN) XP_024308865.1:p.Val22325=
XM_024453098.1:c.66894G>T (TTN) XP_024308866.1:p.Val22298=
XM_024453099.1:c.48657G>T (TTN) XP_024308867.1:p.Val16219=
XM_024453100.1:c.38511G>T (TTN) XP_024308868.1:p.Val12837=