Canonical Allele Identifier: CA349423643
Community Standard Title: NM_001267550.2(TTN):c.67490G>A (p.Trp22497Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178579707C>T , CM000664.2:g.178579707C>T GRCh38
NC_000002.11:g.179444434C>T , CM000664.1:g.179444434C>T GRCh37
NC_000002.10:g.179152680C>T NCBI36
NG_011618.3:g.256096G>A , LRG_391:g.256096G>A
NG_051363.1:g.61881C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.67490G>A (TTN) MANE Select NP_001254479.2:p.Trp22497Ter
ENST00000589042.5:c.67490G>A (TTN) MANE Select ENSP00000467141.1:p.Trp22497Ter
NM_001256850.1:c.62567G>A (TTN) NP_001243779.1:p.Trp20856Ter
NM_003319.4:c.40295G>A (TTN) NP_003310.4:p.Trp13432Ter
NM_133378.4:c.59786G>A (TTN) NP_596869.4:p.Trp19929Ter
NM_133432.3:c.40670G>A (TTN) NP_597676.3:p.Trp13557Ter
NM_133437.4:c.40871G>A (TTN) NP_597681.4:p.Trp13624Ter
NR_038271.1:n.596+8258C>T (TTN-AS1)
NR_038272.1:n.2044-2865C>T (TTN-AS1)
ENST00000342175.10:c.40871G>A (TTN) ENSP00000340554.6:p.Trp13624Ter
ENST00000342175.11:c.40871G>A (TTN) ENSP00000340554.6:p.Trp13624Ter
ENST00000342992.10:c.59786G>A (TTN) ENSP00000343764.6:p.Trp19929Ter
ENST00000342992.11:c.59786G>A (TTN) ENSP00000343764.6:p.Trp19929Ter
ENST00000359218.10:c.40670G>A (TTN) ENSP00000352154.5:p.Trp13557Ter
ENST00000359218.9:c.40670G>A (TTN) ENSP00000352154.5:p.Trp13557Ter
ENST00000460472.6:c.40295G>A (TTN) ENSP00000434586.1:p.Trp13432Ter
ENST00000591111.5:c.62567G>A (TTN) ENSP00000465570.1:p.Trp20856Ter
ENST00000615779.4:c.62567G>A (TTN) ENSP00000483597.1:p.Trp20856Ter
XM_011511729.1:c.66587G>A (TTN) XP_011510031.1:p.Trp22196Ter
XM_011511730.1:c.40481G>A (TTN) XP_011510032.1:p.Trp13494Ter
XM_011511731.1:c.40340G>A (TTN) XP_011510033.1:p.Trp13447Ter
XM_017004819.1:c.66383G>A (TTN) XP_016860308.1:p.Trp22128Ter
XM_017004820.1:c.61781G>A (TTN) XP_016860309.1:p.Trp20594Ter
XM_017004821.1:c.61778G>A (TTN) XP_016860310.1:p.Trp20593Ter
XM_017004822.1:c.58820G>A (TTN) XP_016860311.1:p.Trp19607Ter
XM_017004823.1:c.40436G>A (TTN) XP_016860312.1:p.Trp13479Ter
XM_024453094.1:c.61931G>A (TTN) XP_024308862.1:p.Trp20644Ter
XM_024453095.1:c.61928G>A (TTN) XP_024308863.1:p.Trp20643Ter
XM_024453096.1:c.61361G>A (TTN) XP_024308864.1:p.Trp20454Ter
XM_024453097.1:c.58703G>A (TTN) XP_024308865.1:p.Trp19568Ter
XM_024453098.1:c.58622G>A (TTN) XP_024308866.1:p.Trp19541Ter
XM_024453099.1:c.40385G>A (TTN) XP_024308867.1:p.Trp13462Ter
XM_024453100.1:c.30239G>A (TTN) XP_024308868.1:p.Trp10080Ter