Canonical Allele Identifier: CA291524
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 137835
dbSNP Id: rs587780988

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178740926A>G , CM000664.2:g.178740926A>G GRCh38
NC_000002.11:g.179605653A>G , CM000664.1:g.179605653A>G GRCh37
NC_000002.10:g.179313898A>G NCBI36
NG_011618.3:g.94877T>C , LRG_391:g.94877T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.10361-2566T>C ENSP00000343764.6:n.10361-2566T>C
ENST00000342175.11:c.11794T>C ENSP00000340554.6:p.Leu3932=
ENST00000359218.10:c.11593T>C ENSP00000352154.5:p.Leu3865=
ENST00000342175.10:c.11794T>C ENSP00000340554.6:p.Leu3932=
ENST00000342992.10:c.10361-2566T>C ENSP00000343764.6:n.10361-2566T>C
ENST00000359218.9:c.11593T>C ENSP00000352154.5:p.Leu3865=
ENST00000460472.6:c.11218T>C ENSP00000434586.1:p.Leu3740=
ENST00000589042.5:c.12307T>C MANE Select ENSP00000467141.1:p.Leu4103=
ENST00000591111.5:c.11356T>C ENSP00000465570.1:p.Leu3786=
ENST00000615779.4:c.11356T>C ENSP00000483597.1:p.Leu3786=
NM_001256850.1:c.11356T>C NP_001243779.1:p.Leu3786=
NM_001267550.2:c.12307T>C MANE Select NP_001254479.2:p.Leu4103=
NM_003319.4:c.11218T>C NP_003310.4:p.Leu3740=
NM_133378.4:c.10361-2566T>C NP_596869.4:n.10361-2566T>C
NM_133432.3:c.11593T>C NP_597676.3:p.Leu3865=
NM_133437.4:c.11794T>C NP_597681.4:p.Leu3932=
XM_011511729.1:c.11404T>C XP_011510031.1:p.Leu3802=
XM_011511730.1:c.11404T>C XP_011510032.1:p.Leu3802=
XM_011511731.1:c.11263T>C XP_011510033.1:p.Leu3755=
XM_017004819.1:c.11359T>C XP_016860308.1:p.Leu3787=
XM_017004820.1:c.10364-2566T>C XP_016860309.1:n.10364-2566T>C
XM_017004821.1:c.10361-2566T>C XP_016860310.1:n.10361-2566T>C
XM_017004822.1:c.11359T>C XP_016860311.1:p.Leu3787=
XM_017004823.1:c.11359T>C XP_016860312.1:p.Leu3787=
XM_024453094.1:c.11359T>C XP_024308862.1:p.Leu3787=
XM_024453095.1:c.11359T>C XP_024308863.1:p.Leu3787=
XM_024453096.1:c.11359T>C XP_024308864.1:p.Leu3787=
XM_024453097.1:c.11359T>C XP_024308865.1:p.Leu3787=
XM_024453098.1:c.11359T>C XP_024308866.1:p.Leu3787=
XM_024453099.1:c.11359T>C XP_024308867.1:p.Leu3787=