Canonical Allele Identifier: CA16043381

Linked Data

ClinVar Variation Id: 374037
ClinVar RCV Id: RCV000414758
dbSNP Id: rs1057518851

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178571565C>T , CM000664.2:g.178571565C>T GRCh38
NC_000002.11:g.179436292C>T , CM000664.1:g.179436292C>T GRCh37
NC_000002.10:g.179144538C>T NCBI36
NG_011618.3:g.264238G>A , LRG_391:g.264238G>A
NG_051363.1:g.53739C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.66863G>A (TTN) ENSP00000343764.6:p.Trp22288Ter
ENST00000342175.11:c.47948G>A (TTN) ENSP00000340554.6:p.Trp15983Ter
ENST00000359218.10:c.47747G>A (TTN) ENSP00000352154.5:p.Trp15916Ter
ENST00000342175.10:c.47948G>A (TTN) ENSP00000340554.6:p.Trp15983Ter
ENST00000342992.10:c.66863G>A (TTN) ENSP00000343764.6:p.Trp22288Ter
ENST00000359218.9:c.47747G>A (TTN) ENSP00000352154.5:p.Trp15916Ter
ENST00000460472.6:c.47372G>A (TTN) ENSP00000434586.1:p.Trp15791Ter
ENST00000589042.5:c.74567G>A (TTN) MANE Select ENSP00000467141.1:p.Trp24856Ter
ENST00000591111.5:c.69644G>A (TTN) ENSP00000465570.1:p.Trp23215Ter
ENST00000615779.4:c.69644G>A (TTN) ENSP00000483597.1:p.Trp23215Ter
NM_001256850.1:c.69644G>A (TTN) NP_001243779.1:p.Trp23215Ter
NM_001267550.2:c.74567G>A (TTN) MANE Select NP_001254479.2:p.Trp24856Ter
NM_003319.4:c.47372G>A (TTN) NP_003310.4:p.Trp15791Ter
NM_133378.4:c.66863G>A (TTN) NP_596869.4:p.Trp22288Ter
NM_133432.3:c.47747G>A (TTN) NP_597676.3:p.Trp15916Ter
NM_133437.4:c.47948G>A (TTN) NP_597681.4:p.Trp15983Ter
NR_038271.1:n.596+116C>T (TTN-AS1)
NR_038272.1:n.2044-11007C>T (TTN-AS1)
XM_011511729.1:c.73664G>A (TTN) XP_011510031.1:p.Trp24555Ter
XM_011511730.1:c.47558G>A (TTN) XP_011510032.1:p.Trp15853Ter
XM_011511731.1:c.47417G>A (TTN) XP_011510033.1:p.Trp15806Ter
XM_017004819.1:c.73460G>A (TTN) XP_016860308.1:p.Trp24487Ter
XM_017004820.1:c.68858G>A (TTN) XP_016860309.1:p.Trp22953Ter
XM_017004821.1:c.68855G>A (TTN) XP_016860310.1:p.Trp22952Ter
XM_017004822.1:c.65897G>A (TTN) XP_016860311.1:p.Trp21966Ter
XM_017004823.1:c.47513G>A (TTN) XP_016860312.1:p.Trp15838Ter
XM_024453094.1:c.69008G>A (TTN) XP_024308862.1:p.Trp23003Ter
XM_024453095.1:c.69005G>A (TTN) XP_024308863.1:p.Trp23002Ter
XM_024453096.1:c.68438G>A (TTN) XP_024308864.1:p.Trp22813Ter
XM_024453097.1:c.65780G>A (TTN) XP_024308865.1:p.Trp21927Ter
XM_024453098.1:c.65699G>A (TTN) XP_024308866.1:p.Trp21900Ter
XM_024453099.1:c.47462G>A (TTN) XP_024308867.1:p.Trp15821Ter
XM_024453100.1:c.37316G>A (TTN) XP_024308868.1:p.Trp12439Ter