Canonical Allele Identifier: CA256517
Gene: TTN HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 12657
ClinVar RCV Id: RCV000013493
dbSNP Id: rs267607158

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178740125G>A , CM000664.2:g.178740125G>A GRCh38
NC_000002.11:g.179604852G>A , CM000664.1:g.179604852G>A GRCh37
NC_000002.10:g.179313097G>A NCBI36
NG_011618.3:g.95678C>T , LRG_391:g.95678C>T

Transcript Alleles

HGVS Amino-acid change
NM_001256850.1:c.12157C>T VV NP_001243779.1:p.Gln4053Ter
NM_001267550.2:c.13108C>T VV MANE Preferred NP_001254479.2:p.Gln4370Ter
NM_003319.4:c.12019C>T VV NP_003310.4:p.Gln4007Ter
NM_133378.4:c.10361-1765C>T VV NP_596869.4:p.=
NM_133432.3:c.12394C>T VV NP_597676.3:p.Gln4132Ter
NM_133437.4:c.12595C>T VV NP_597681.4:p.Gln4199Ter
XM_011511729.1:c.12205C>T XP_011510031.1:p.Gln4069Ter
XM_011511730.1:c.12205C>T XP_011510032.1:p.Gln4069Ter
XM_011511731.1:c.12064C>T XP_011510033.1:p.Gln4022Ter
XM_017004819.1:c.12160C>T XP_016860308.1:p.Gln4054Ter
XM_017004820.1:c.10364-1765C>T XP_016860309.1:p.=
XM_017004821.1:c.10361-1765C>T XP_016860310.1:p.=
XM_017004822.1:c.12160C>T XP_016860311.1:p.Gln4054Ter
XM_017004823.1:c.12160C>T XP_016860312.1:p.Gln4054Ter
XM_024453094.1:c.12160C>T XP_024308862.1:p.Gln4054Ter
XM_024453095.1:c.12160C>T XP_024308863.1:p.Gln4054Ter
XM_024453096.1:c.12160C>T XP_024308864.1:p.Gln4054Ter
XM_024453097.1:c.12160C>T XP_024308865.1:p.Gln4054Ter
XM_024453098.1:c.12160C>T XP_024308866.1:p.Gln4054Ter
XM_024453099.1:c.12160C>T XP_024308867.1:p.Gln4054Ter
ENST00000342175.10:c.12595C>T ENSP00000340554.6:p.Gln4199Ter
ENST00000342992.10:c.10361-1765C>T ENSP00000343764.6:p.=
ENST00000359218.9:c.12394C>T ENSP00000352154.5:p.Gln4132Ter
ENST00000460472.6:c.12019C>T ENSP00000434586.1:p.Gln4007Ter
ENST00000589042.5:c.13108C>T ENSP00000467141.1:p.Gln4370Ter
ENST00000591111.5:c.12157C>T ENSP00000465570.1:p.Gln4053Ter
ENST00000615779.4:c.12157C>T ENSP00000483597.1:p.Gln4053Ter