Canonical Allele Identifier: CA2006309
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 413149
ClinVar RCV Id: RCV000474922
dbSNP Id: rs758598014

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178800435G>A , CM000664.2:g.178800435G>A GRCh38
NC_000002.11:g.179665162G>A , CM000664.1:g.179665162G>A GRCh37
NC_000002.10:g.179373407G>A NCBI36
NG_011618.3:g.35368C>T , LRG_391:g.35368C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342175.11:n.543C>T ENSP00000340554.6:p.Ser181=
ENST00000359218.10:n.543C>T ENSP00000352154.5:p.Ser181=
ENST00000360870.10:c.543C>T MANE Plus Clinical ENSP00000354117.4:p.Ser181=
ENST00000342175.10:c.543C>T ENSP00000340554.6:p.Ser181=
ENST00000342992.10:c.543C>T ENSP00000343764.6:p.Ser181=
ENST00000359218.9:c.543C>T ENSP00000352154.5:p.Ser181=
ENST00000360870.9:c.543C>T ENSP00000354117.4:p.Ser181=
ENST00000460472.6:c.543C>T ENSP00000434586.1:p.Ser181=
ENST00000470257.1:n.753C>T
ENST00000589042.5:c.543C>T MANE Select ENSP00000467141.1:p.Ser181=
ENST00000591111.5:c.543C>T ENSP00000465570.1:p.Ser181=
ENST00000615779.4:c.543C>T ENSP00000483597.1:p.Ser181=
NM_001256850.1:c.543C>T NP_001243779.1:p.Ser181=
NM_001267550.2:c.543C>T MANE Select NP_001254479.2:p.Ser181=
NM_003319.4:c.543C>T NP_003310.4:p.Ser181=
NM_133378.4:c.543C>T NP_596869.4:p.Ser181=
NM_133379.4:c.543C>T , LRG_391t2:c.543C>T NP_596870.2:p.Ser181=
NM_133432.3:c.543C>T NP_597676.3:p.Ser181=
NM_133437.4:c.543C>T NP_597681.4:p.Ser181=
XM_011511729.1:c.588C>T XP_011510031.1:p.Ser196=
XM_011511730.1:c.588C>T XP_011510032.1:p.Ser196=
XM_011511731.1:c.588C>T XP_011510033.1:p.Ser196=
XM_011511732.1:c.588C>T XP_011510034.1:p.Ser196=
XM_017004819.1:c.543C>T XP_016860308.1:p.Ser181=
XM_017004820.1:c.543C>T XP_016860309.1:p.Ser181=
XM_017004821.1:c.543C>T XP_016860310.1:p.Ser181=
XM_017004822.1:c.543C>T XP_016860311.1:p.Ser181=
XM_017004823.1:c.543C>T XP_016860312.1:p.Ser181=
XM_024453094.1:c.543C>T XP_024308862.1:p.Ser181=
XM_024453095.1:c.543C>T XP_024308863.1:p.Ser181=
XM_024453096.1:c.543C>T XP_024308864.1:p.Ser181=
XM_024453097.1:c.543C>T XP_024308865.1:p.Ser181=
XM_024453098.1:c.543C>T XP_024308866.1:p.Ser181=
XM_024453099.1:c.543C>T XP_024308867.1:p.Ser181=
NM_133379.5:c.543C>T MANE Plus Clinical NP_596870.2:p.Ser181=