Canonical Allele Identifier: CA349434796

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178539960G>C , CM000664.2:g.178539960G>C GRCh38
NC_000002.11:g.179404687G>C , CM000664.1:g.179404687G>C GRCh37
NC_000002.10:g.179112933G>C NCBI36
NG_011618.3:g.295843C>G , LRG_391:g.295843C>G
NG_051363.1:g.22134G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.90401C>G (TTN) ENSP00000343764.6:p.Pro30134Arg
ENST00000342175.11:c.71486C>G (TTN) ENSP00000340554.6:p.Pro23829Arg
ENST00000359218.10:c.71285C>G (TTN) ENSP00000352154.5:p.Pro23762Arg
ENST00000342175.10:c.71486C>G (TTN) ENSP00000340554.6:p.Pro23829Arg
ENST00000342992.10:c.90401C>G (TTN) ENSP00000343764.6:p.Pro30134Arg
ENST00000359218.9:c.71285C>G (TTN) ENSP00000352154.5:p.Pro23762Arg
ENST00000460472.6:c.70910C>G (TTN) ENSP00000434586.1:p.Pro23637Arg
ENST00000589042.5:c.98105C>G (TTN) MANE Select ENSP00000467141.1:p.Pro32702Arg
ENST00000591111.5:c.93182C>G (TTN) ENSP00000465570.1:p.Pro31061Arg
ENST00000615779.4:c.93182C>G (TTN) ENSP00000483597.1:p.Pro31061Arg
NM_001256850.1:c.93182C>G (TTN) NP_001243779.1:p.Pro31061Arg
NM_001267550.2:c.98105C>G (TTN) MANE Select NP_001254479.2:p.Pro32702Arg
NM_003319.4:c.70910C>G (TTN) NP_003310.4:p.Pro23637Arg
NM_133378.4:c.90401C>G (TTN) NP_596869.4:p.Pro30134Arg
NM_133432.3:c.71285C>G (TTN) NP_597676.3:p.Pro23762Arg
NM_133437.4:c.71486C>G (TTN) NP_597681.4:p.Pro23829Arg
NR_038271.1:n.446+16324G>C (TTN-AS1)
NR_038272.1:n.1840+70G>C (TTN-AS1)
XM_011511729.1:c.97202C>G (TTN) XP_011510031.1:p.Pro32401Arg
XM_011511730.1:c.71096C>G (TTN) XP_011510032.1:p.Pro23699Arg
XM_011511731.1:c.70955C>G (TTN) XP_011510033.1:p.Pro23652Arg
XM_017004819.1:c.96998C>G (TTN) XP_016860308.1:p.Pro32333Arg
XM_017004820.1:c.92396C>G (TTN) XP_016860309.1:p.Pro30799Arg
XM_017004821.1:c.92393C>G (TTN) XP_016860310.1:p.Pro30798Arg
XM_017004822.1:c.89435C>G (TTN) XP_016860311.1:p.Pro29812Arg
XM_017004823.1:c.71051C>G (TTN) XP_016860312.1:p.Pro23684Arg
XM_024453094.1:c.92546C>G (TTN) XP_024308862.1:p.Pro30849Arg
XM_024453095.1:c.92543C>G (TTN) XP_024308863.1:p.Pro30848Arg
XM_024453096.1:c.91976C>G (TTN) XP_024308864.1:p.Pro30659Arg
XM_024453097.1:c.89318C>G (TTN) XP_024308865.1:p.Pro29773Arg
XM_024453098.1:c.89237C>G (TTN) XP_024308866.1:p.Pro29746Arg
XM_024453099.1:c.71000C>G (TTN) XP_024308867.1:p.Pro23667Arg
XM_024453100.1:c.60854C>G (TTN) XP_024308868.1:p.Pro20285Arg