Canonical Allele Identifier: CA1993416

Linked Data

ClinVar Variation Id: 263665
dbSNP Id: rs368450420

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178601338C>T , CM000664.2:g.178601338C>T GRCh38
NC_000002.11:g.179466065C>T , CM000664.1:g.179466065C>T GRCh37
NC_000002.10:g.179174310C>T NCBI36
NG_011618.3:g.234465G>A , LRG_391:g.234465G>A
NG_051363.1:g.83512C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.47955G>A (TTN) ENSP00000343764.6:p.Val15985=
ENST00000342175.11:c.29040G>A (TTN) ENSP00000340554.6:p.Val9680=
ENST00000359218.10:c.28839G>A (TTN) ENSP00000352154.5:p.Val9613=
ENST00000342175.10:c.29040G>A (TTN) ENSP00000340554.6:p.Val9680=
ENST00000342992.10:c.47955G>A (TTN) ENSP00000343764.6:p.Val15985=
ENST00000359218.9:c.28839G>A (TTN) ENSP00000352154.5:p.Val9613=
ENST00000460472.6:c.28464G>A (TTN) ENSP00000434586.1:p.Val9488=
ENST00000589042.5:c.55659G>A (TTN) MANE Select ENSP00000467141.1:p.Val18553=
ENST00000591111.5:c.50736G>A (TTN) ENSP00000465570.1:p.Val16912=
ENST00000615779.4:c.50736G>A (TTN) ENSP00000483597.1:p.Val16912=
NM_001256850.1:c.50736G>A (TTN) NP_001243779.1:p.Val16912=
NM_001267550.2:c.55659G>A (TTN) MANE Select NP_001254479.2:p.Val18553=
NM_003319.4:c.28464G>A (TTN) NP_003310.4:p.Val9488=
NM_133378.4:c.47955G>A (TTN) NP_596869.4:p.Val15985=
NM_133432.3:c.28839G>A (TTN) NP_597676.3:p.Val9613=
NM_133437.4:c.29040G>A (TTN) NP_597681.4:p.Val9680=
NR_038271.1:n.682+3657C>T (TTN-AS1)
NR_038272.1:n.3917+671C>T (TTN-AS1)
XM_011511729.1:c.54756G>A (TTN) XP_011510031.1:p.Val18252=
XM_011511730.1:c.28650G>A (TTN) XP_011510032.1:p.Val9550=
XM_011511731.1:c.28509G>A (TTN) XP_011510033.1:p.Val9503=
XM_017004819.1:c.54552G>A (TTN) XP_016860308.1:p.Val18184=
XM_017004820.1:c.49950G>A (TTN) XP_016860309.1:p.Val16650=
XM_017004821.1:c.49947G>A (TTN) XP_016860310.1:p.Val16649=
XM_017004822.1:c.46989G>A (TTN) XP_016860311.1:p.Val15663=
XM_017004823.1:c.28605G>A (TTN) XP_016860312.1:p.Val9535=
XM_024453094.1:c.50100G>A (TTN) XP_024308862.1:p.Val16700=
XM_024453095.1:c.50097G>A (TTN) XP_024308863.1:p.Val16699=
XM_024453096.1:c.49530G>A (TTN) XP_024308864.1:p.Val16510=
XM_024453097.1:c.46872G>A (TTN) XP_024308865.1:p.Val15624=
XM_024453098.1:c.46791G>A (TTN) XP_024308866.1:p.Val15597=
XM_024453099.1:c.28554G>A (TTN) XP_024308867.1:p.Val9518=
XM_024453100.1:c.18408G>A (TTN) XP_024308868.1:p.Val6136=