Canonical Allele Identifier: CA16604240
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 386833
ClinVar RCV Id: RCV000441962
dbSNP Id: rs879121745

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178740492C>T , CM000664.2:g.178740492C>T GRCh38
NC_000002.11:g.179605219C>T , CM000664.1:g.179605219C>T GRCh37
NC_000002.10:g.179313464C>T NCBI36
NG_011618.3:g.95311G>A , LRG_391:g.95311G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.10361-2132G>A ENSP00000343764.6:n.10361-2132G>A
ENST00000342175.11:c.12228G>A ENSP00000340554.6:p.Glu4076=
ENST00000359218.10:c.12027G>A ENSP00000352154.5:p.Glu4009=
ENST00000342175.10:c.12228G>A ENSP00000340554.6:p.Glu4076=
ENST00000342992.10:c.10361-2132G>A ENSP00000343764.6:n.10361-2132G>A
ENST00000359218.9:c.12027G>A ENSP00000352154.5:p.Glu4009=
ENST00000460472.6:c.11652G>A ENSP00000434586.1:p.Glu3884=
ENST00000589042.5:c.12741G>A MANE Select ENSP00000467141.1:p.Glu4247=
ENST00000591111.5:c.11790G>A ENSP00000465570.1:p.Glu3930=
ENST00000615779.4:c.11790G>A ENSP00000483597.1:p.Glu3930=
NM_001256850.1:c.11790G>A NP_001243779.1:p.Glu3930=
NM_001267550.2:c.12741G>A MANE Select NP_001254479.2:p.Glu4247=
NM_003319.4:c.11652G>A NP_003310.4:p.Glu3884=
NM_133378.4:c.10361-2132G>A NP_596869.4:n.10361-2132G>A
NM_133432.3:c.12027G>A NP_597676.3:p.Glu4009=
NM_133437.4:c.12228G>A NP_597681.4:p.Glu4076=
XM_011511729.1:c.11838G>A XP_011510031.1:p.Glu3946=
XM_011511730.1:c.11838G>A XP_011510032.1:p.Glu3946=
XM_011511731.1:c.11697G>A XP_011510033.1:p.Glu3899=
XM_017004819.1:c.11793G>A XP_016860308.1:p.Glu3931=
XM_017004820.1:c.10364-2132G>A XP_016860309.1:n.10364-2132G>A
XM_017004821.1:c.10361-2132G>A XP_016860310.1:n.10361-2132G>A
XM_017004822.1:c.11793G>A XP_016860311.1:p.Glu3931=
XM_017004823.1:c.11793G>A XP_016860312.1:p.Glu3931=
XM_024453094.1:c.11793G>A XP_024308862.1:p.Glu3931=
XM_024453095.1:c.11793G>A XP_024308863.1:p.Glu3931=
XM_024453096.1:c.11793G>A XP_024308864.1:p.Glu3931=
XM_024453097.1:c.11793G>A XP_024308865.1:p.Glu3931=
XM_024453098.1:c.11793G>A XP_024308866.1:p.Glu3931=
XM_024453099.1:c.11793G>A XP_024308867.1:p.Glu3931=