Canonical Allele Identifier: CA1986618

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178542698C>T , CM000664.2:g.178542698C>T GRCh38
NC_000002.11:g.179407425C>T , CM000664.1:g.179407425C>T GRCh37
NC_000002.10:g.179115671C>T NCBI36
NG_011618.3:g.293105G>A , LRG_391:g.293105G>A
NG_051363.1:g.24872C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.89452G>A (TTN) ENSP00000343764.6:p.Gly29818Arg
ENST00000342175.11:c.70537G>A (TTN) ENSP00000340554.6:p.Gly23513Arg
ENST00000359218.10:c.70336G>A (TTN) ENSP00000352154.5:p.Gly23446Arg
ENST00000342175.10:c.70537G>A (TTN) ENSP00000340554.6:p.Gly23513Arg
ENST00000342992.10:c.89452G>A (TTN) ENSP00000343764.6:p.Gly29818Arg
ENST00000359218.9:c.70336G>A (TTN) ENSP00000352154.5:p.Gly23446Arg
ENST00000460472.6:c.69961G>A (TTN) ENSP00000434586.1:p.Gly23321Arg
ENST00000589042.5:c.97156G>A (TTN) MANE Select ENSP00000467141.1:p.Gly32386Arg
ENST00000591111.5:c.92233G>A (TTN) ENSP00000465570.1:p.Gly30745Arg
ENST00000615779.4:c.92233G>A (TTN) ENSP00000483597.1:p.Gly30745Arg
NM_001256850.1:c.92233G>A (TTN) NP_001243779.1:p.Gly30745Arg
NM_001267550.2:c.97156G>A (TTN) MANE Select NP_001254479.2:p.Gly32386Arg
NM_003319.4:c.69961G>A (TTN) NP_003310.4:p.Gly23321Arg
NM_133378.4:c.89452G>A (TTN) NP_596869.4:p.Gly29818Arg
NM_133432.3:c.70336G>A (TTN) NP_597676.3:p.Gly23446Arg
NM_133437.4:c.70537G>A (TTN) NP_597681.4:p.Gly23513Arg
NR_038271.1:n.446+19062C>T (TTN-AS1)
NR_038272.1:n.2043+337C>T (TTN-AS1)
XM_011511729.1:c.96253G>A (TTN) XP_011510031.1:p.Gly32085Arg
XM_011511730.1:c.70147G>A (TTN) XP_011510032.1:p.Gly23383Arg
XM_011511731.1:c.70006G>A (TTN) XP_011510033.1:p.Gly23336Arg
XM_017004819.1:c.96049G>A (TTN) XP_016860308.1:p.Gly32017Arg
XM_017004820.1:c.91447G>A (TTN) XP_016860309.1:p.Gly30483Arg
XM_017004821.1:c.91444G>A (TTN) XP_016860310.1:p.Gly30482Arg
XM_017004822.1:c.88486G>A (TTN) XP_016860311.1:p.Gly29496Arg
XM_017004823.1:c.70102G>A (TTN) XP_016860312.1:p.Gly23368Arg
XM_024453094.1:c.91597G>A (TTN) XP_024308862.1:p.Gly30533Arg
XM_024453095.1:c.91594G>A (TTN) XP_024308863.1:p.Gly30532Arg
XM_024453096.1:c.91027G>A (TTN) XP_024308864.1:p.Gly30343Arg
XM_024453097.1:c.88369G>A (TTN) XP_024308865.1:p.Gly29457Arg
XM_024453098.1:c.88288G>A (TTN) XP_024308866.1:p.Gly29430Arg
XM_024453099.1:c.70051G>A (TTN) XP_024308867.1:p.Gly23351Arg
XM_024453100.1:c.59905G>A (TTN) XP_024308868.1:p.Gly19969Arg