Canonical Allele Identifier: CA349407031

Linked Data

ClinVar Variation Id: 959891
ClinVar RCV Id: RCV001233323
dbSNP Id: rs1688636055

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530513A>G , CM000664.2:g.178530513A>G GRCh38
NC_000002.11:g.179395240A>G , CM000664.1:g.179395240A>G GRCh37
NC_000002.10:g.179103486A>G NCBI36
NG_011618.3:g.305290T>C , LRG_391:g.305290T>C
NG_051363.1:g.12687A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98398T>C (TTN) ENSP00000343764.6:p.Ser32800Pro
ENST00000342175.11:c.79483T>C (TTN) ENSP00000340554.6:p.Ser26495Pro
ENST00000359218.10:c.79282T>C (TTN) ENSP00000352154.5:p.Ser26428Pro
ENST00000342175.10:c.79483T>C (TTN) ENSP00000340554.6:p.Ser26495Pro
ENST00000342992.10:c.98398T>C (TTN) ENSP00000343764.6:p.Ser32800Pro
ENST00000359218.9:c.79282T>C (TTN) ENSP00000352154.5:p.Ser26428Pro
ENST00000460472.6:c.78907T>C (TTN) ENSP00000434586.1:p.Ser26303Pro
ENST00000589042.5:c.106102T>C (TTN) MANE Select ENSP00000467141.1:p.Ser35368Pro
ENST00000591111.5:c.101179T>C (TTN) ENSP00000465570.1:p.Ser33727Pro
ENST00000615779.4:c.101179T>C (TTN) ENSP00000483597.1:p.Ser33727Pro
NM_001256850.1:c.101179T>C (TTN) NP_001243779.1:p.Ser33727Pro
NM_001267550.2:c.106102T>C (TTN) MANE Select NP_001254479.2:p.Ser35368Pro
NM_003319.4:c.78907T>C (TTN) NP_003310.4:p.Ser26303Pro
NM_133378.4:c.98398T>C (TTN) NP_596869.4:p.Ser32800Pro
NM_133432.3:c.79282T>C (TTN) NP_597676.3:p.Ser26428Pro
NM_133437.4:c.79483T>C (TTN) NP_597681.4:p.Ser26495Pro
NR_038271.1:n.446+6877A>G (TTN-AS1)
NR_038272.1:n.220-5219A>G (TTN-AS1)
XM_011511729.1:c.105199T>C (TTN) XP_011510031.1:p.Ser35067Pro
XM_011511730.1:c.79093T>C (TTN) XP_011510032.1:p.Ser26365Pro
XM_011511731.1:c.78952T>C (TTN) XP_011510033.1:p.Ser26318Pro
XM_017004819.1:c.104995T>C (TTN) XP_016860308.1:p.Ser34999Pro
XM_017004820.1:c.100393T>C (TTN) XP_016860309.1:p.Ser33465Pro
XM_017004821.1:c.100390T>C (TTN) XP_016860310.1:p.Ser33464Pro
XM_017004822.1:c.97432T>C (TTN) XP_016860311.1:p.Ser32478Pro
XM_017004823.1:c.79048T>C (TTN) XP_016860312.1:p.Ser26350Pro
XM_024453094.1:c.100543T>C (TTN) XP_024308862.1:p.Ser33515Pro
XM_024453095.1:c.100540T>C (TTN) XP_024308863.1:p.Ser33514Pro
XM_024453096.1:c.99973T>C (TTN) XP_024308864.1:p.Ser33325Pro
XM_024453097.1:c.97315T>C (TTN) XP_024308865.1:p.Ser32439Pro
XM_024453098.1:c.97234T>C (TTN) XP_024308866.1:p.Ser32412Pro
XM_024453099.1:c.78997T>C (TTN) XP_024308867.1:p.Ser26333Pro
XM_024453100.1:c.68851T>C (TTN) XP_024308868.1:p.Ser22951Pro