Canonical Allele Identifier: CA349581328

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.73814C>A (TTN) ENSP00000343764.6:p.Pro24605Gln
ENST00000342175.11:c.54899C>A (TTN) ENSP00000340554.6:p.Pro18300Gln
ENST00000359218.10:c.54698C>A (TTN) ENSP00000352154.5:p.Pro18233Gln
ENST00000342175.10:c.54899C>A (TTN) ENSP00000340554.6:p.Pro18300Gln
ENST00000342992.10:c.73814C>A (TTN) ENSP00000343764.6:p.Pro24605Gln
ENST00000359218.9:c.54698C>A (TTN) ENSP00000352154.5:p.Pro18233Gln
ENST00000460472.6:c.54323C>A (TTN) ENSP00000434586.1:p.Pro18108Gln
ENST00000589042.5:c.81518C>A (TTN) MANE Select ENSP00000467141.1:p.Pro27173Gln
ENST00000591111.5:c.76595C>A (TTN) ENSP00000465570.1:p.Pro25532Gln
ENST00000615779.4:c.76595C>A (TTN) ENSP00000483597.1:p.Pro25532Gln
NM_001256850.1:c.76595C>A (TTN) NP_001243779.1:p.Pro25532Gln
NM_001267550.2:c.81518C>A (TTN) MANE Select NP_001254479.2:p.Pro27173Gln
NM_003319.4:c.54323C>A (TTN) NP_003310.4:p.Pro18108Gln
NM_133378.4:c.73814C>A (TTN) NP_596869.4:p.Pro24605Gln
NM_133432.3:c.54698C>A (TTN) NP_597676.3:p.Pro18233Gln
NM_133437.4:c.54899C>A (TTN) NP_597681.4:p.Pro18300Gln
NR_038271.1:n.447-6686G>T (TTN-AS1)
NR_038272.1:n.2044-17958G>T (TTN-AS1)
XM_011511729.1:c.80615C>A (TTN) XP_011510031.1:p.Pro26872Gln
XM_011511730.1:c.54509C>A (TTN) XP_011510032.1:p.Pro18170Gln
XM_011511731.1:c.54368C>A (TTN) XP_011510033.1:p.Pro18123Gln
XM_017004819.1:c.80411C>A (TTN) XP_016860308.1:p.Pro26804Gln
XM_017004820.1:c.75809C>A (TTN) XP_016860309.1:p.Pro25270Gln
XM_017004821.1:c.75806C>A (TTN) XP_016860310.1:p.Pro25269Gln
XM_017004822.1:c.72848C>A (TTN) XP_016860311.1:p.Pro24283Gln
XM_017004823.1:c.54464C>A (TTN) XP_016860312.1:p.Pro18155Gln
XM_024453094.1:c.75959C>A (TTN) XP_024308862.1:p.Pro25320Gln
XM_024453095.1:c.75956C>A (TTN) XP_024308863.1:p.Pro25319Gln
XM_024453096.1:c.75389C>A (TTN) XP_024308864.1:p.Pro25130Gln
XM_024453097.1:c.72731C>A (TTN) XP_024308865.1:p.Pro24244Gln
XM_024453098.1:c.72650C>A (TTN) XP_024308866.1:p.Pro24217Gln
XM_024453099.1:c.54413C>A (TTN) XP_024308867.1:p.Pro18138Gln
XM_024453100.1:c.44267C>A (TTN) XP_024308868.1:p.Pro14756Gln