Canonical Allele Identifier: CA346771
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 180578
dbSNP Id: rs730880244

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178635717T>G , CM000664.2:g.178635717T>G GRCh38
NC_000002.11:g.179500444T>G , CM000664.1:g.179500444T>G GRCh37
NC_000002.10:g.179208689T>G NCBI36
NG_011618.3:g.200086A>C , LRG_391:g.200086A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.33905-2A>C ENSP00000343764.6:n.33905-2A>C
ENST00000342175.11:c.14990-2A>C ENSP00000340554.6:n.14990-2A>C
ENST00000359218.10:c.14789-2A>C ENSP00000352154.5:n.14789-2A>C
ENST00000342175.10:c.14990-2A>C ENSP00000340554.6:n.14990-2A>C
ENST00000342992.10:c.33905-2A>C ENSP00000343764.6:n.33905-2A>C
ENST00000359218.9:c.14789-2A>C ENSP00000352154.5:n.14789-2A>C
ENST00000460472.6:c.14414-2A>C ENSP00000434586.1:n.14414-2A>C
ENST00000589042.5:c.41609-2A>C MANE Select ENSP00000467141.1:n.41609-2A>C
ENST00000591111.5:c.36686-2A>C ENSP00000465570.1:n.36686-2A>C
ENST00000615779.4:c.36686-2A>C ENSP00000483597.1:n.36686-2A>C
NM_001256850.1:c.36686-2A>C NP_001243779.1:n.36686-2A>C
NM_001267550.2:c.41609-2A>C MANE Select NP_001254479.2:n.41609-2A>C
NM_003319.4:c.14414-2A>C NP_003310.4:n.14414-2A>C
NM_133378.4:c.33905-2A>C NP_596869.4:n.33905-2A>C
NM_133432.3:c.14789-2A>C NP_597676.3:n.14789-2A>C
NM_133437.4:c.14990-2A>C NP_597681.4:n.14990-2A>C
XM_011511729.1:c.40706-2A>C XP_011510031.1:n.40706-2A>C
XM_011511730.1:c.14600-2A>C XP_011510032.1:n.14600-2A>C
XM_011511731.1:c.14459-2A>C XP_011510033.1:n.14459-2A>C
XM_017004819.1:c.40502-2A>C XP_016860308.1:n.40502-2A>C
XM_017004820.1:c.35900-2A>C XP_016860309.1:n.35900-2A>C
XM_017004821.1:c.35897-2A>C XP_016860310.1:n.35897-2A>C
XM_017004822.1:c.32939-2A>C XP_016860311.1:n.32939-2A>C
XM_017004823.1:c.14555-2A>C XP_016860312.1:n.14555-2A>C
XM_024453094.1:c.36050-2A>C XP_024308862.1:n.36050-2A>C
XM_024453095.1:c.36047-2A>C XP_024308863.1:n.36047-2A>C
XM_024453096.1:c.35480-2A>C XP_024308864.1:n.35480-2A>C
XM_024453097.1:c.32822-2A>C XP_024308865.1:n.32822-2A>C
XM_024453098.1:c.32741-2A>C XP_024308866.1:n.32741-2A>C
XM_024453099.1:c.14504-2A>C XP_024308867.1:n.14504-2A>C
XM_024453100.1:c.4358-2A>C XP_024308868.1:n.4358-2A>C