Canonical Allele Identifier: CA349618271

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618066G>C , CM000664.2:g.178618066G>C GRCh38
NC_000002.11:g.179482793G>C , CM000664.1:g.179482793G>C GRCh37
NC_000002.10:g.179191038G>C NCBI36
NG_011618.3:g.217737C>G , LRG_391:g.217737C>G
NG_051363.1:g.100240G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.39581C>G (TTN) ENSP00000343764.6:p.Pro13194Arg
ENST00000342175.11:c.20666C>G (TTN) ENSP00000340554.6:p.Pro6889Arg
ENST00000359218.10:c.20465C>G (TTN) ENSP00000352154.5:p.Pro6822Arg
ENST00000342175.10:c.20666C>G (TTN) ENSP00000340554.6:p.Pro6889Arg
ENST00000342992.10:c.39581C>G (TTN) ENSP00000343764.6:p.Pro13194Arg
ENST00000359218.9:c.20465C>G (TTN) ENSP00000352154.5:p.Pro6822Arg
ENST00000460472.6:c.20090C>G (TTN) ENSP00000434586.1:p.Pro6697Arg
ENST00000589042.5:c.47285C>G (TTN) MANE Select ENSP00000467141.1:p.Pro15762Arg
ENST00000591111.5:c.42362C>G (TTN) ENSP00000465570.1:p.Pro14121Arg
ENST00000615779.4:c.42362C>G (TTN) ENSP00000483597.1:p.Pro14121Arg
NM_001256850.1:c.42362C>G (TTN) NP_001243779.1:p.Pro14121Arg
NM_001267550.2:c.47285C>G (TTN) MANE Select NP_001254479.2:p.Pro15762Arg
NM_003319.4:c.20090C>G (TTN) NP_003310.4:p.Pro6697Arg
NM_133378.4:c.39581C>G (TTN) NP_596869.4:p.Pro13194Arg
NM_133432.3:c.20465C>G (TTN) NP_597676.3:p.Pro6822Arg
NM_133437.4:c.20666C>G (TTN) NP_597681.4:p.Pro6889Arg
NR_038271.1:n.1605-1687G>C (TTN-AS1)
XM_011511729.1:c.46382C>G (TTN) XP_011510031.1:p.Pro15461Arg
XM_011511730.1:c.20276C>G (TTN) XP_011510032.1:p.Pro6759Arg
XM_011511731.1:c.20135C>G (TTN) XP_011510033.1:p.Pro6712Arg
XM_017004819.1:c.46178C>G (TTN) XP_016860308.1:p.Pro15393Arg
XM_017004820.1:c.41576C>G (TTN) XP_016860309.1:p.Pro13859Arg
XM_017004821.1:c.41573C>G (TTN) XP_016860310.1:p.Pro13858Arg
XM_017004822.1:c.38615C>G (TTN) XP_016860311.1:p.Pro12872Arg
XM_017004823.1:c.20231C>G (TTN) XP_016860312.1:p.Pro6744Arg
XM_024453094.1:c.41726C>G (TTN) XP_024308862.1:p.Pro13909Arg
XM_024453095.1:c.41723C>G (TTN) XP_024308863.1:p.Pro13908Arg
XM_024453096.1:c.41156C>G (TTN) XP_024308864.1:p.Pro13719Arg
XM_024453097.1:c.38498C>G (TTN) XP_024308865.1:p.Pro12833Arg
XM_024453098.1:c.38417C>G (TTN) XP_024308866.1:p.Pro12806Arg
XM_024453099.1:c.20180C>G (TTN) XP_024308867.1:p.Pro6727Arg
XM_024453100.1:c.10034C>G (TTN) XP_024308868.1:p.Pro3345Arg