Canonical Allele Identifier: CA349405625

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530112A>C , CM000664.2:g.178530112A>C GRCh38
NC_000002.11:g.179394839A>C , CM000664.1:g.179394839A>C GRCh37
NC_000002.10:g.179103085A>C NCBI36
NG_011618.3:g.305691T>G , LRG_391:g.305691T>G
NG_051363.1:g.12286A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98675T>G (TTN) ENSP00000343764.6:p.Ile32892Ser
ENST00000342175.11:c.79760T>G (TTN) ENSP00000340554.6:p.Ile26587Ser
ENST00000359218.10:c.79559T>G (TTN) ENSP00000352154.5:p.Ile26520Ser
ENST00000342175.10:c.79760T>G (TTN) ENSP00000340554.6:p.Ile26587Ser
ENST00000342992.10:c.98675T>G (TTN) ENSP00000343764.6:p.Ile32892Ser
ENST00000359218.9:c.79559T>G (TTN) ENSP00000352154.5:p.Ile26520Ser
ENST00000460472.6:c.79184T>G (TTN) ENSP00000434586.1:p.Ile26395Ser
ENST00000589042.5:c.106379T>G (TTN) MANE Select ENSP00000467141.1:p.Ile35460Ser
ENST00000591111.5:c.101456T>G (TTN) ENSP00000465570.1:p.Ile33819Ser
ENST00000615779.4:c.101456T>G (TTN) ENSP00000483597.1:p.Ile33819Ser
NM_001256850.1:c.101456T>G (TTN) NP_001243779.1:p.Ile33819Ser
NM_001267550.2:c.106379T>G (TTN) MANE Select NP_001254479.2:p.Ile35460Ser
NM_003319.4:c.79184T>G (TTN) NP_003310.4:p.Ile26395Ser
NM_133378.4:c.98675T>G (TTN) NP_596869.4:p.Ile32892Ser
NM_133432.3:c.79559T>G (TTN) NP_597676.3:p.Ile26520Ser
NM_133437.4:c.79760T>G (TTN) NP_597681.4:p.Ile26587Ser
NR_038271.1:n.446+6476A>C (TTN-AS1)
NR_038272.1:n.220-5620A>C (TTN-AS1)
XM_011511729.1:c.105476T>G (TTN) XP_011510031.1:p.Ile35159Ser
XM_011511730.1:c.79370T>G (TTN) XP_011510032.1:p.Ile26457Ser
XM_011511731.1:c.79229T>G (TTN) XP_011510033.1:p.Ile26410Ser
XM_017004819.1:c.105272T>G (TTN) XP_016860308.1:p.Ile35091Ser
XM_017004820.1:c.100670T>G (TTN) XP_016860309.1:p.Ile33557Ser
XM_017004821.1:c.100667T>G (TTN) XP_016860310.1:p.Ile33556Ser
XM_017004822.1:c.97709T>G (TTN) XP_016860311.1:p.Ile32570Ser
XM_017004823.1:c.79325T>G (TTN) XP_016860312.1:p.Ile26442Ser
XM_024453094.1:c.100820T>G (TTN) XP_024308862.1:p.Ile33607Ser
XM_024453095.1:c.100817T>G (TTN) XP_024308863.1:p.Ile33606Ser
XM_024453096.1:c.100250T>G (TTN) XP_024308864.1:p.Ile33417Ser
XM_024453097.1:c.97592T>G (TTN) XP_024308865.1:p.Ile32531Ser
XM_024453098.1:c.97511T>G (TTN) XP_024308866.1:p.Ile32504Ser
XM_024453099.1:c.79274T>G (TTN) XP_024308867.1:p.Ile26425Ser
XM_024453100.1:c.69128T>G (TTN) XP_024308868.1:p.Ile23043Ser