Canonical Allele Identifier: CA1999409
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 332901
dbSNP Id: rs371163094

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178706557C>T , CM000664.2:g.178706557C>T GRCh38
NC_000002.11:g.179571284C>T , CM000664.1:g.179571284C>T GRCh37
NC_000002.10:g.179279529C>T NCBI36
NG_011618.3:g.129246G>A , LRG_391:g.129246G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.25585G>A ENSP00000343764.6:p.Ala8529Thr
ENST00000342175.11:c.13858+31525G>A ENSP00000340554.6:n.13858+31525G>A
ENST00000359218.10:c.13657+31525G>A ENSP00000352154.5:n.13657+31525G>A
ENST00000342175.10:c.13858+31525G>A ENSP00000340554.6:n.13858+31525G>A
ENST00000342992.10:c.25585G>A ENSP00000343764.6:p.Ala8529Thr
ENST00000359218.9:c.13657+31525G>A ENSP00000352154.5:n.13657+31525G>A
ENST00000460472.6:c.13282+31525G>A ENSP00000434586.1:n.13282+31525G>A
ENST00000589042.5:c.29317G>A MANE Select ENSP00000467141.1:p.Ala9773Thr
ENST00000591111.5:c.28366G>A ENSP00000465570.1:p.Ala9456Thr
ENST00000615779.4:c.28366G>A ENSP00000483597.1:p.Ala9456Thr
NM_001256850.1:c.28366G>A NP_001243779.1:p.Ala9456Thr
NM_001267550.2:c.29317G>A MANE Select NP_001254479.2:p.Ala9773Thr
NM_003319.4:c.13282+31525G>A NP_003310.4:n.13282+31525G>A
NM_133378.4:c.25585G>A NP_596869.4:p.Ala8529Thr
NM_133432.3:c.13657+31525G>A NP_597676.3:n.13657+31525G>A
NM_133437.4:c.13858+31525G>A NP_597681.4:n.13858+31525G>A
XM_011511729.1:c.28414G>A XP_011510031.1:p.Ala9472Thr
XM_011511730.1:c.13468+31525G>A XP_011510032.1:n.13468+31525G>A
XM_011511731.1:c.13327+31525G>A XP_011510033.1:n.13327+31525G>A
XM_017004819.1:c.28369G>A XP_016860308.1:p.Ala9457Thr
XM_017004820.1:c.25588G>A XP_016860309.1:p.Ala8530Thr
XM_017004821.1:c.25585G>A XP_016860310.1:p.Ala8529Thr
XM_017004822.1:c.28369G>A XP_016860311.1:p.Ala9457Thr
XM_017004823.1:c.13423+31525G>A XP_016860312.1:n.13423+31525G>A
XM_024453094.1:c.28369G>A XP_024308862.1:p.Ala9457Thr
XM_024453095.1:c.28369G>A XP_024308863.1:p.Ala9457Thr
XM_024453096.1:c.28369G>A XP_024308864.1:p.Ala9457Thr
XM_024453097.1:c.28369G>A XP_024308865.1:p.Ala9457Thr
XM_024453098.1:c.28369G>A XP_024308866.1:p.Ala9457Thr
XM_024453099.1:c.13423+31525G>A XP_024308867.1:n.13423+31525G>A