Canonical Allele Identifier: CA232533
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 137833
dbSNP Id: rs78535378

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178756545C>T , CM000664.2:g.178756545C>T GRCh38
NC_000002.11:g.179621272C>T , CM000664.1:g.179621272C>T GRCh37
NC_000002.10:g.179329517C>T NCBI36
NG_011618.3:g.79258G>A , LRG_391:g.79258G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.10303+2439G>A ENSP00000343764.6:n.10303+2439G>A
ENST00000342175.11:c.10418G>A ENSP00000340554.6:p.Ser3473Asn
ENST00000359218.10:c.10540+997G>A ENSP00000352154.5:n.10540+997G>A
ENST00000360870.10:c.10303+2439G>A MANE Plus Clinical ENSP00000354117.4:n.10303+2439G>A
ENST00000342175.10:c.10418G>A ENSP00000340554.6:p.Ser3473Asn
ENST00000342992.10:c.10303+2439G>A ENSP00000343764.6:n.10303+2439G>A
ENST00000359218.9:c.10540+997G>A ENSP00000352154.5:n.10540+997G>A
ENST00000360870.9:c.10303+2439G>A ENSP00000354117.4:n.10303+2439G>A
ENST00000460472.6:c.10165+2439G>A ENSP00000434586.1:n.10165+2439G>A
ENST00000589042.5:c.10931G>A MANE Select ENSP00000467141.1:p.Ser3644Asn
ENST00000591111.5:c.10303+2439G>A ENSP00000465570.1:n.10303+2439G>A
ENST00000615779.4:c.10303+2439G>A ENSP00000483597.1:n.10303+2439G>A
ENST00000634225.1:c.899+2439G>A
NM_001256850.1:c.10303+2439G>A NP_001243779.1:n.10303+2439G>A
NM_001267550.2:c.10931G>A MANE Select NP_001254479.2:p.Ser3644Asn
NM_003319.4:c.10165+2439G>A NP_003310.4:n.10165+2439G>A
NM_133378.4:c.10303+2439G>A NP_596869.4:n.10303+2439G>A
NM_133379.4:c.10303+2439G>A , LRG_391t2:c.10303+2439G>A NP_596870.2:n.10303+2439G>A
NM_133432.3:c.10540+997G>A NP_597676.3:n.10540+997G>A
NM_133437.4:c.10418G>A NP_597681.4:p.Ser3473Asn
XM_011511729.1:c.10351+2439G>A XP_011510031.1:n.10351+2439G>A
XM_011511730.1:c.10351+2439G>A XP_011510032.1:n.10351+2439G>A
XM_011511731.1:c.10210+2439G>A XP_011510033.1:n.10210+2439G>A
XM_011511732.1:c.10348+2439G>A XP_011510034.1:n.10348+2439G>A
XM_017004819.1:c.10306+2439G>A XP_016860308.1:n.10306+2439G>A
XM_017004820.1:c.10306+2439G>A XP_016860309.1:n.10306+2439G>A
XM_017004821.1:c.10303+2439G>A XP_016860310.1:n.10303+2439G>A
XM_017004822.1:c.10306+2439G>A XP_016860311.1:n.10306+2439G>A
XM_017004823.1:c.10306+2439G>A XP_016860312.1:n.10306+2439G>A
XM_024453094.1:c.10306+2439G>A XP_024308862.1:n.10306+2439G>A
XM_024453095.1:c.10306+2439G>A XP_024308863.1:n.10306+2439G>A
XM_024453096.1:c.10306+2439G>A XP_024308864.1:n.10306+2439G>A
XM_024453097.1:c.10306+2439G>A XP_024308865.1:n.10306+2439G>A
XM_024453098.1:c.10306+2439G>A XP_024308866.1:n.10306+2439G>A
XM_024453099.1:c.10306+2439G>A XP_024308867.1:n.10306+2439G>A
NM_133379.5:c.10303+2439G>A MANE Plus Clinical NP_596870.2:n.10303+2439G>A