Canonical Allele Identifier: CA349581327

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178564614G>C , CM000664.2:g.178564614G>C GRCh38
NC_000002.11:g.179429341G>C , CM000664.1:g.179429341G>C GRCh37
NC_000002.10:g.179137587G>C NCBI36
NG_011618.3:g.271189C>G , LRG_391:g.271189C>G
NG_051363.1:g.46788G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.73814C>G (TTN) ENSP00000343764.6:p.Pro24605Arg
ENST00000342175.11:c.54899C>G (TTN) ENSP00000340554.6:p.Pro18300Arg
ENST00000359218.10:c.54698C>G (TTN) ENSP00000352154.5:p.Pro18233Arg
ENST00000342175.10:c.54899C>G (TTN) ENSP00000340554.6:p.Pro18300Arg
ENST00000342992.10:c.73814C>G (TTN) ENSP00000343764.6:p.Pro24605Arg
ENST00000359218.9:c.54698C>G (TTN) ENSP00000352154.5:p.Pro18233Arg
ENST00000460472.6:c.54323C>G (TTN) ENSP00000434586.1:p.Pro18108Arg
ENST00000589042.5:c.81518C>G (TTN) MANE Select ENSP00000467141.1:p.Pro27173Arg
ENST00000591111.5:c.76595C>G (TTN) ENSP00000465570.1:p.Pro25532Arg
ENST00000615779.4:c.76595C>G (TTN) ENSP00000483597.1:p.Pro25532Arg
NM_001256850.1:c.76595C>G (TTN) NP_001243779.1:p.Pro25532Arg
NM_001267550.2:c.81518C>G (TTN) MANE Select NP_001254479.2:p.Pro27173Arg
NM_003319.4:c.54323C>G (TTN) NP_003310.4:p.Pro18108Arg
NM_133378.4:c.73814C>G (TTN) NP_596869.4:p.Pro24605Arg
NM_133432.3:c.54698C>G (TTN) NP_597676.3:p.Pro18233Arg
NM_133437.4:c.54899C>G (TTN) NP_597681.4:p.Pro18300Arg
NR_038271.1:n.447-6686G>C (TTN-AS1)
NR_038272.1:n.2044-17958G>C (TTN-AS1)
XM_011511729.1:c.80615C>G (TTN) XP_011510031.1:p.Pro26872Arg
XM_011511730.1:c.54509C>G (TTN) XP_011510032.1:p.Pro18170Arg
XM_011511731.1:c.54368C>G (TTN) XP_011510033.1:p.Pro18123Arg
XM_017004819.1:c.80411C>G (TTN) XP_016860308.1:p.Pro26804Arg
XM_017004820.1:c.75809C>G (TTN) XP_016860309.1:p.Pro25270Arg
XM_017004821.1:c.75806C>G (TTN) XP_016860310.1:p.Pro25269Arg
XM_017004822.1:c.72848C>G (TTN) XP_016860311.1:p.Pro24283Arg
XM_017004823.1:c.54464C>G (TTN) XP_016860312.1:p.Pro18155Arg
XM_024453094.1:c.75959C>G (TTN) XP_024308862.1:p.Pro25320Arg
XM_024453095.1:c.75956C>G (TTN) XP_024308863.1:p.Pro25319Arg
XM_024453096.1:c.75389C>G (TTN) XP_024308864.1:p.Pro25130Arg
XM_024453097.1:c.72731C>G (TTN) XP_024308865.1:p.Pro24244Arg
XM_024453098.1:c.72650C>G (TTN) XP_024308866.1:p.Pro24217Arg
XM_024453099.1:c.54413C>G (TTN) XP_024308867.1:p.Pro18138Arg
XM_024453100.1:c.44267C>G (TTN) XP_024308868.1:p.Pro14756Arg