Canonical Allele Identifier: CA1988898
Community Standard Title: NM_001267550.2(TTN):c.83600C>G (p.Pro27867Arg)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178562532G>C , CM000664.2:g.178562532G>C GRCh38
NC_000002.11:g.179427259G>C , CM000664.1:g.179427259G>C GRCh37
NC_000002.10:g.179135505G>C NCBI36
NG_011618.3:g.273271C>G , LRG_391:g.273271C>G
NG_051363.1:g.44706G>C

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.83600C>G (TTN) MANE Select NP_001254479.2:p.Pro27867Arg
ENST00000589042.5:c.83600C>G (TTN) MANE Select ENSP00000467141.1:p.Pro27867Arg
NM_001256850.1:c.78677C>G (TTN) NP_001243779.1:p.Pro26226Arg
NM_003319.4:c.56405C>G (TTN) NP_003310.4:p.Pro18802Arg
NM_133378.4:c.75896C>G (TTN) NP_596869.4:p.Pro25299Arg
NM_133432.3:c.56780C>G (TTN) NP_597676.3:p.Pro18927Arg
NM_133437.4:c.56981C>G (TTN) NP_597681.4:p.Pro18994Arg
NR_038271.1:n.447-8768G>C (TTN-AS1)
NR_038272.1:n.2044-20040G>C (TTN-AS1)
ENST00000342175.10:c.56981C>G (TTN) ENSP00000340554.6:p.Pro18994Arg
ENST00000342175.11:c.56981C>G (TTN) ENSP00000340554.6:p.Pro18994Arg
ENST00000342992.10:c.75896C>G (TTN) ENSP00000343764.6:p.Pro25299Arg
ENST00000342992.11:c.75896C>G (TTN) ENSP00000343764.6:p.Pro25299Arg
ENST00000359218.10:c.56780C>G (TTN) ENSP00000352154.5:p.Pro18927Arg
ENST00000359218.9:c.56780C>G (TTN) ENSP00000352154.5:p.Pro18927Arg
ENST00000460472.6:c.56405C>G (TTN) ENSP00000434586.1:p.Pro18802Arg
ENST00000591111.5:c.78677C>G (TTN) ENSP00000465570.1:p.Pro26226Arg
ENST00000615779.4:c.78677C>G (TTN) ENSP00000483597.1:p.Pro26226Arg
XM_011511729.1:c.82697C>G (TTN) XP_011510031.1:p.Pro27566Arg
XM_011511730.1:c.56591C>G (TTN) XP_011510032.1:p.Pro18864Arg
XM_011511731.1:c.56450C>G (TTN) XP_011510033.1:p.Pro18817Arg
XM_017004819.1:c.82493C>G (TTN) XP_016860308.1:p.Pro27498Arg
XM_017004820.1:c.77891C>G (TTN) XP_016860309.1:p.Pro25964Arg
XM_017004821.1:c.77888C>G (TTN) XP_016860310.1:p.Pro25963Arg
XM_017004822.1:c.74930C>G (TTN) XP_016860311.1:p.Pro24977Arg
XM_017004823.1:c.56546C>G (TTN) XP_016860312.1:p.Pro18849Arg
XM_024453094.1:c.78041C>G (TTN) XP_024308862.1:p.Pro26014Arg
XM_024453095.1:c.78038C>G (TTN) XP_024308863.1:p.Pro26013Arg
XM_024453096.1:c.77471C>G (TTN) XP_024308864.1:p.Pro25824Arg
XM_024453097.1:c.74813C>G (TTN) XP_024308865.1:p.Pro24938Arg
XM_024453098.1:c.74732C>G (TTN) XP_024308866.1:p.Pro24911Arg
XM_024453099.1:c.56495C>G (TTN) XP_024308867.1:p.Pro18832Arg
XM_024453100.1:c.46349C>G (TTN) XP_024308868.1:p.Pro15450Arg