Canonical Allele Identifier: CA349652181
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 453173
dbSNP Id: rs754568652

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178632990G>A , CM000664.2:g.178632990G>A GRCh38
NC_000002.11:g.179497717G>A , CM000664.1:g.179497717G>A GRCh37
NC_000002.10:g.179205962G>A NCBI36
NG_011618.3:g.202813C>T , LRG_391:g.202813C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.35437C>T ENSP00000343764.6:p.Gln11813Ter
ENST00000342175.11:c.16522C>T ENSP00000340554.6:p.Gln5508Ter
ENST00000359218.10:c.16321C>T ENSP00000352154.5:p.Gln5441Ter
ENST00000342175.10:c.16522C>T ENSP00000340554.6:p.Gln5508Ter
ENST00000342992.10:c.35437C>T ENSP00000343764.6:p.Gln11813Ter
ENST00000359218.9:c.16321C>T ENSP00000352154.5:p.Gln5441Ter
ENST00000460472.6:c.15946C>T ENSP00000434586.1:p.Gln5316Ter
ENST00000589042.5:c.43141C>T MANE Select ENSP00000467141.1:p.Gln14381Ter
ENST00000591111.5:c.38218C>T ENSP00000465570.1:p.Gln12740Ter
ENST00000615779.4:c.38218C>T ENSP00000483597.1:p.Gln12740Ter
NM_001256850.1:c.38218C>T NP_001243779.1:p.Gln12740Ter
NM_001267550.2:c.43141C>T MANE Select NP_001254479.2:p.Gln14381Ter
NM_003319.4:c.15946C>T NP_003310.4:p.Gln5316Ter
NM_133378.4:c.35437C>T NP_596869.4:p.Gln11813Ter
NM_133432.3:c.16321C>T NP_597676.3:p.Gln5441Ter
NM_133437.4:c.16522C>T NP_597681.4:p.Gln5508Ter
XM_011511729.1:c.42238C>T XP_011510031.1:p.Gln14080Ter
XM_011511730.1:c.16132C>T XP_011510032.1:p.Gln5378Ter
XM_011511731.1:c.15991C>T XP_011510033.1:p.Gln5331Ter
XM_017004819.1:c.42034C>T XP_016860308.1:p.Gln14012Ter
XM_017004820.1:c.37432C>T XP_016860309.1:p.Gln12478Ter
XM_017004821.1:c.37429C>T XP_016860310.1:p.Gln12477Ter
XM_017004822.1:c.34471C>T XP_016860311.1:p.Gln11491Ter
XM_017004823.1:c.16087C>T XP_016860312.1:p.Gln5363Ter
XM_024453094.1:c.37582C>T XP_024308862.1:p.Gln12528Ter
XM_024453095.1:c.37579C>T XP_024308863.1:p.Gln12527Ter
XM_024453096.1:c.37012C>T XP_024308864.1:p.Gln12338Ter
XM_024453097.1:c.34354C>T XP_024308865.1:p.Gln11452Ter
XM_024453098.1:c.34273C>T XP_024308866.1:p.Gln11425Ter
XM_024453099.1:c.16036C>T XP_024308867.1:p.Gln5346Ter
XM_024453100.1:c.5890C>T XP_024308868.1:p.Gln1964Ter