Canonical Allele Identifier: CA1996321
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 467129
dbSNP Id: rs762470432

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178636708C>T , CM000664.2:g.178636708C>T GRCh38
NC_000002.11:g.179501435C>T , CM000664.1:g.179501435C>T GRCh37
NC_000002.10:g.179209680C>T NCBI36
NG_011618.3:g.199095G>A , LRG_391:g.199095G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.33315G>A ENSP00000343764.6:p.Pro11105=
ENST00000342175.11:c.14400G>A ENSP00000340554.6:p.Pro4800=
ENST00000359218.10:c.14199G>A ENSP00000352154.5:p.Pro4733=
ENST00000342175.10:c.14400G>A ENSP00000340554.6:p.Pro4800=
ENST00000342992.10:c.33315G>A ENSP00000343764.6:p.Pro11105=
ENST00000359218.9:c.14199G>A ENSP00000352154.5:p.Pro4733=
ENST00000460472.6:c.13824G>A ENSP00000434586.1:p.Pro4608=
ENST00000589042.5:c.41019G>A MANE Select ENSP00000467141.1:p.Pro13673=
ENST00000591111.5:c.36096G>A ENSP00000465570.1:p.Pro12032=
ENST00000615779.4:c.36096G>A ENSP00000483597.1:p.Pro12032=
NM_001256850.1:c.36096G>A NP_001243779.1:p.Pro12032=
NM_001267550.2:c.41019G>A MANE Select NP_001254479.2:p.Pro13673=
NM_003319.4:c.13824G>A NP_003310.4:p.Pro4608=
NM_133378.4:c.33315G>A NP_596869.4:p.Pro11105=
NM_133432.3:c.14199G>A NP_597676.3:p.Pro4733=
NM_133437.4:c.14400G>A NP_597681.4:p.Pro4800=
XM_011511729.1:c.40116G>A XP_011510031.1:p.Pro13372=
XM_011511730.1:c.14010G>A XP_011510032.1:p.Pro4670=
XM_011511731.1:c.13869G>A XP_011510033.1:p.Pro4623=
XM_017004819.1:c.39912G>A XP_016860308.1:p.Pro13304=
XM_017004820.1:c.35310G>A XP_016860309.1:p.Pro11770=
XM_017004821.1:c.35307G>A XP_016860310.1:p.Pro11769=
XM_017004822.1:c.32349G>A XP_016860311.1:p.Pro10783=
XM_017004823.1:c.13965G>A XP_016860312.1:p.Pro4655=
XM_024453094.1:c.35460G>A XP_024308862.1:p.Pro11820=
XM_024453095.1:c.35457G>A XP_024308863.1:p.Pro11819=
XM_024453096.1:c.34890G>A XP_024308864.1:p.Pro11630=
XM_024453097.1:c.32232G>A XP_024308865.1:p.Pro10744=
XM_024453098.1:c.32151G>A XP_024308866.1:p.Pro10717=
XM_024453099.1:c.13914G>A XP_024308867.1:p.Pro4638=
XM_024453100.1:c.3768G>A XP_024308868.1:p.Pro1256=