Canonical Allele Identifier: CA349672148

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178577993G>C , CM000664.2:g.178577993G>C GRCh38
NC_000002.11:g.179442720G>C , CM000664.1:g.179442720G>C GRCh37
NC_000002.10:g.179150966G>C NCBI36
NG_011618.3:g.257810C>G , LRG_391:g.257810C>G
NG_051363.1:g.60167G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.60818C>G (TTN) ENSP00000343764.6:p.Pro20273Arg
ENST00000342175.11:c.41903C>G (TTN) ENSP00000340554.6:p.Pro13968Arg
ENST00000359218.10:c.41702C>G (TTN) ENSP00000352154.5:p.Pro13901Arg
ENST00000342175.10:c.41903C>G (TTN) ENSP00000340554.6:p.Pro13968Arg
ENST00000342992.10:c.60818C>G (TTN) ENSP00000343764.6:p.Pro20273Arg
ENST00000359218.9:c.41702C>G (TTN) ENSP00000352154.5:p.Pro13901Arg
ENST00000460472.6:c.41327C>G (TTN) ENSP00000434586.1:p.Pro13776Arg
ENST00000589042.5:c.68522C>G (TTN) MANE Select ENSP00000467141.1:p.Pro22841Arg
ENST00000591111.5:c.63599C>G (TTN) ENSP00000465570.1:p.Pro21200Arg
ENST00000615779.4:c.63599C>G (TTN) ENSP00000483597.1:p.Pro21200Arg
NM_001256850.1:c.63599C>G (TTN) NP_001243779.1:p.Pro21200Arg
NM_001267550.2:c.68522C>G (TTN) MANE Select NP_001254479.2:p.Pro22841Arg
NM_003319.4:c.41327C>G (TTN) NP_003310.4:p.Pro13776Arg
NM_133378.4:c.60818C>G (TTN) NP_596869.4:p.Pro20273Arg
NM_133432.3:c.41702C>G (TTN) NP_597676.3:p.Pro13901Arg
NM_133437.4:c.41903C>G (TTN) NP_597681.4:p.Pro13968Arg
NR_038271.1:n.596+6544G>C (TTN-AS1)
NR_038272.1:n.2044-4579G>C (TTN-AS1)
XM_011511729.1:c.67619C>G (TTN) XP_011510031.1:p.Pro22540Arg
XM_011511730.1:c.41513C>G (TTN) XP_011510032.1:p.Pro13838Arg
XM_011511731.1:c.41372C>G (TTN) XP_011510033.1:p.Pro13791Arg
XM_017004819.1:c.67415C>G (TTN) XP_016860308.1:p.Pro22472Arg
XM_017004820.1:c.62813C>G (TTN) XP_016860309.1:p.Pro20938Arg
XM_017004821.1:c.62810C>G (TTN) XP_016860310.1:p.Pro20937Arg
XM_017004822.1:c.59852C>G (TTN) XP_016860311.1:p.Pro19951Arg
XM_017004823.1:c.41468C>G (TTN) XP_016860312.1:p.Pro13823Arg
XM_024453094.1:c.62963C>G (TTN) XP_024308862.1:p.Pro20988Arg
XM_024453095.1:c.62960C>G (TTN) XP_024308863.1:p.Pro20987Arg
XM_024453096.1:c.62393C>G (TTN) XP_024308864.1:p.Pro20798Arg
XM_024453097.1:c.59735C>G (TTN) XP_024308865.1:p.Pro19912Arg
XM_024453098.1:c.59654C>G (TTN) XP_024308866.1:p.Pro19885Arg
XM_024453099.1:c.41417C>G (TTN) XP_024308867.1:p.Pro13806Arg
XM_024453100.1:c.31271C>G (TTN) XP_024308868.1:p.Pro10424Arg