Canonical Allele Identifier: CA349407067

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530531A>G , CM000664.2:g.178530531A>G GRCh38
NC_000002.11:g.179395258A>G , CM000664.1:g.179395258A>G GRCh37
NC_000002.10:g.179103504A>G NCBI36
NG_011618.3:g.305272T>C , LRG_391:g.305272T>C
NG_051363.1:g.12705A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98380T>C (TTN) ENSP00000343764.6:p.Ser32794Pro
ENST00000342175.11:c.79465T>C (TTN) ENSP00000340554.6:p.Ser26489Pro
ENST00000359218.10:c.79264T>C (TTN) ENSP00000352154.5:p.Ser26422Pro
ENST00000342175.10:c.79465T>C (TTN) ENSP00000340554.6:p.Ser26489Pro
ENST00000342992.10:c.98380T>C (TTN) ENSP00000343764.6:p.Ser32794Pro
ENST00000359218.9:c.79264T>C (TTN) ENSP00000352154.5:p.Ser26422Pro
ENST00000460472.6:c.78889T>C (TTN) ENSP00000434586.1:p.Ser26297Pro
ENST00000589042.5:c.106084T>C (TTN) MANE Select ENSP00000467141.1:p.Ser35362Pro
ENST00000591111.5:c.101161T>C (TTN) ENSP00000465570.1:p.Ser33721Pro
ENST00000615779.4:c.101161T>C (TTN) ENSP00000483597.1:p.Ser33721Pro
NM_001256850.1:c.101161T>C (TTN) NP_001243779.1:p.Ser33721Pro
NM_001267550.2:c.106084T>C (TTN) MANE Select NP_001254479.2:p.Ser35362Pro
NM_003319.4:c.78889T>C (TTN) NP_003310.4:p.Ser26297Pro
NM_133378.4:c.98380T>C (TTN) NP_596869.4:p.Ser32794Pro
NM_133432.3:c.79264T>C (TTN) NP_597676.3:p.Ser26422Pro
NM_133437.4:c.79465T>C (TTN) NP_597681.4:p.Ser26489Pro
NR_038271.1:n.446+6895A>G (TTN-AS1)
NR_038272.1:n.220-5201A>G (TTN-AS1)
XM_011511729.1:c.105181T>C (TTN) XP_011510031.1:p.Ser35061Pro
XM_011511730.1:c.79075T>C (TTN) XP_011510032.1:p.Ser26359Pro
XM_011511731.1:c.78934T>C (TTN) XP_011510033.1:p.Ser26312Pro
XM_017004819.1:c.104977T>C (TTN) XP_016860308.1:p.Ser34993Pro
XM_017004820.1:c.100375T>C (TTN) XP_016860309.1:p.Ser33459Pro
XM_017004821.1:c.100372T>C (TTN) XP_016860310.1:p.Ser33458Pro
XM_017004822.1:c.97414T>C (TTN) XP_016860311.1:p.Ser32472Pro
XM_017004823.1:c.79030T>C (TTN) XP_016860312.1:p.Ser26344Pro
XM_024453094.1:c.100525T>C (TTN) XP_024308862.1:p.Ser33509Pro
XM_024453095.1:c.100522T>C (TTN) XP_024308863.1:p.Ser33508Pro
XM_024453096.1:c.99955T>C (TTN) XP_024308864.1:p.Ser33319Pro
XM_024453097.1:c.97297T>C (TTN) XP_024308865.1:p.Ser32433Pro
XM_024453098.1:c.97216T>C (TTN) XP_024308866.1:p.Ser32406Pro
XM_024453099.1:c.78979T>C (TTN) XP_024308867.1:p.Ser26327Pro
XM_024453100.1:c.68833T>C (TTN) XP_024308868.1:p.Ser22945Pro