Canonical Allele Identifier: CA349593308

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178566273G>C , CM000664.2:g.178566273G>C GRCh38
NC_000002.11:g.179431000G>C , CM000664.1:g.179431000G>C GRCh37
NC_000002.10:g.179139246G>C NCBI36
NG_011618.3:g.269530C>G , LRG_391:g.269530C>G
NG_051363.1:g.48447G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.72155C>G (TTN) ENSP00000343764.6:p.Pro24052Arg
ENST00000342175.11:c.53240C>G (TTN) ENSP00000340554.6:p.Pro17747Arg
ENST00000359218.10:c.53039C>G (TTN) ENSP00000352154.5:p.Pro17680Arg
ENST00000342175.10:c.53240C>G (TTN) ENSP00000340554.6:p.Pro17747Arg
ENST00000342992.10:c.72155C>G (TTN) ENSP00000343764.6:p.Pro24052Arg
ENST00000359218.9:c.53039C>G (TTN) ENSP00000352154.5:p.Pro17680Arg
ENST00000460472.6:c.52664C>G (TTN) ENSP00000434586.1:p.Pro17555Arg
ENST00000589042.5:c.79859C>G (TTN) MANE Select ENSP00000467141.1:p.Pro26620Arg
ENST00000591111.5:c.74936C>G (TTN) ENSP00000465570.1:p.Pro24979Arg
ENST00000615779.4:c.74936C>G (TTN) ENSP00000483597.1:p.Pro24979Arg
NM_001256850.1:c.74936C>G (TTN) NP_001243779.1:p.Pro24979Arg
NM_001267550.2:c.79859C>G (TTN) MANE Select NP_001254479.2:p.Pro26620Arg
NM_003319.4:c.52664C>G (TTN) NP_003310.4:p.Pro17555Arg
NM_133378.4:c.72155C>G (TTN) NP_596869.4:p.Pro24052Arg
NM_133432.3:c.53039C>G (TTN) NP_597676.3:p.Pro17680Arg
NM_133437.4:c.53240C>G (TTN) NP_597681.4:p.Pro17747Arg
NR_038271.1:n.447-5027G>C (TTN-AS1)
NR_038272.1:n.2044-16299G>C (TTN-AS1)
XM_011511729.1:c.78956C>G (TTN) XP_011510031.1:p.Pro26319Arg
XM_011511730.1:c.52850C>G (TTN) XP_011510032.1:p.Pro17617Arg
XM_011511731.1:c.52709C>G (TTN) XP_011510033.1:p.Pro17570Arg
XM_017004819.1:c.78752C>G (TTN) XP_016860308.1:p.Pro26251Arg
XM_017004820.1:c.74150C>G (TTN) XP_016860309.1:p.Pro24717Arg
XM_017004821.1:c.74147C>G (TTN) XP_016860310.1:p.Pro24716Arg
XM_017004822.1:c.71189C>G (TTN) XP_016860311.1:p.Pro23730Arg
XM_017004823.1:c.52805C>G (TTN) XP_016860312.1:p.Pro17602Arg
XM_024453094.1:c.74300C>G (TTN) XP_024308862.1:p.Pro24767Arg
XM_024453095.1:c.74297C>G (TTN) XP_024308863.1:p.Pro24766Arg
XM_024453096.1:c.73730C>G (TTN) XP_024308864.1:p.Pro24577Arg
XM_024453097.1:c.71072C>G (TTN) XP_024308865.1:p.Pro23691Arg
XM_024453098.1:c.70991C>G (TTN) XP_024308866.1:p.Pro23664Arg
XM_024453099.1:c.52754C>G (TTN) XP_024308867.1:p.Pro17585Arg
XM_024453100.1:c.42608C>G (TTN) XP_024308868.1:p.Pro14203Arg