Canonical Allele Identifier: CA141993
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 47828
dbSNP Id: rs374631591

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178740580A>G , CM000664.2:g.178740580A>G GRCh38
NC_000002.11:g.179605307A>G , CM000664.1:g.179605307A>G GRCh37
NC_000002.10:g.179313552A>G NCBI36
NG_011618.3:g.95223T>C , LRG_391:g.95223T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342175.11:n.12140T>C ENSP00000340554.6:p.Ile4047Thr
ENST00000359218.10:n.11939T>C ENSP00000352154.5:p.Ile3980Thr
ENST00000342175.10:c.12140T>C ENSP00000340554.6:p.Ile4047Thr
ENST00000342992.10:c.10361-2220T>C ENSP00000343764.6:p.=
ENST00000359218.9:c.11939T>C ENSP00000352154.5:p.Ile3980Thr
ENST00000460472.6:c.11564T>C ENSP00000434586.1:p.Ile3855Thr
ENST00000589042.5:c.12653T>C MANE Select ENSP00000467141.1:p.Ile4218Thr
ENST00000591111.5:c.11702T>C ENSP00000465570.1:p.Ile3901Thr
ENST00000615779.4:c.11702T>C ENSP00000483597.1:p.Ile3901Thr
NM_001256850.1:c.11702T>C NP_001243779.1:p.Ile3901Thr
NM_001267550.2:c.12653T>C MANE Select NP_001254479.2:p.Ile4218Thr
NM_003319.4:c.11564T>C NP_003310.4:p.Ile3855Thr
NM_133378.4:c.10361-2220T>C NP_596869.4:p.=
NM_133432.3:c.11939T>C NP_597676.3:p.Ile3980Thr
NM_133437.4:c.12140T>C NP_597681.4:p.Ile4047Thr
XM_011511729.1:c.11750T>C XP_011510031.1:p.Ile3917Thr
XM_011511730.1:c.11750T>C XP_011510032.1:p.Ile3917Thr
XM_011511731.1:c.11609T>C XP_011510033.1:p.Ile3870Thr
XM_017004819.1:c.11705T>C XP_016860308.1:p.Ile3902Thr
XM_017004820.1:c.10364-2220T>C XP_016860309.1:p.=
XM_017004821.1:c.10361-2220T>C XP_016860310.1:p.=
XM_017004822.1:c.11705T>C XP_016860311.1:p.Ile3902Thr
XM_017004823.1:c.11705T>C XP_016860312.1:p.Ile3902Thr
XM_024453094.1:c.11705T>C XP_024308862.1:p.Ile3902Thr
XM_024453095.1:c.11705T>C XP_024308863.1:p.Ile3902Thr
XM_024453096.1:c.11705T>C XP_024308864.1:p.Ile3902Thr
XM_024453097.1:c.11705T>C XP_024308865.1:p.Ile3902Thr
XM_024453098.1:c.11705T>C XP_024308866.1:p.Ile3902Thr
XM_024453099.1:c.11705T>C XP_024308867.1:p.Ile3902Thr