Canonical Allele Identifier: CA349547006
Community Standard Title: NM_001267550.2(TTN):c.86015G>A (p.Trp28672Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178560117C>T , CM000664.2:g.178560117C>T GRCh38
NC_000002.11:g.179424844C>T , CM000664.1:g.179424844C>T GRCh37
NC_000002.10:g.179133090C>T NCBI36
NG_011618.3:g.275686G>A , LRG_391:g.275686G>A
NG_051363.1:g.42291C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.86015G>A (TTN) MANE Select NP_001254479.2:p.Trp28672Ter
ENST00000589042.5:c.86015G>A (TTN) MANE Select ENSP00000467141.1:p.Trp28672Ter
NM_001256850.1:c.81092G>A (TTN) NP_001243779.1:p.Trp27031Ter
NM_003319.4:c.58820G>A (TTN) NP_003310.4:p.Trp19607Ter
NM_133378.4:c.78311G>A (TTN) NP_596869.4:p.Trp26104Ter
NM_133432.3:c.59195G>A (TTN) NP_597676.3:p.Trp19732Ter
NM_133437.4:c.59396G>A (TTN) NP_597681.4:p.Trp19799Ter
NR_038271.1:n.447-11183C>T (TTN-AS1)
NR_038272.1:n.2043+17756C>T (TTN-AS1)
ENST00000342175.10:c.59396G>A (TTN) ENSP00000340554.6:p.Trp19799Ter
ENST00000342175.11:c.59396G>A (TTN) ENSP00000340554.6:p.Trp19799Ter
ENST00000342992.10:c.78311G>A (TTN) ENSP00000343764.6:p.Trp26104Ter
ENST00000342992.11:c.78311G>A (TTN) ENSP00000343764.6:p.Trp26104Ter
ENST00000359218.10:c.59195G>A (TTN) ENSP00000352154.5:p.Trp19732Ter
ENST00000359218.9:c.59195G>A (TTN) ENSP00000352154.5:p.Trp19732Ter
ENST00000460472.6:c.58820G>A (TTN) ENSP00000434586.1:p.Trp19607Ter
ENST00000591111.5:c.81092G>A (TTN) ENSP00000465570.1:p.Trp27031Ter
ENST00000615779.4:c.81092G>A (TTN) ENSP00000483597.1:p.Trp27031Ter
XM_011511729.1:c.85112G>A (TTN) XP_011510031.1:p.Trp28371Ter
XM_011511730.1:c.59006G>A (TTN) XP_011510032.1:p.Trp19669Ter
XM_011511731.1:c.58865G>A (TTN) XP_011510033.1:p.Trp19622Ter
XM_017004819.1:c.84908G>A (TTN) XP_016860308.1:p.Trp28303Ter
XM_017004820.1:c.80306G>A (TTN) XP_016860309.1:p.Trp26769Ter
XM_017004821.1:c.80303G>A (TTN) XP_016860310.1:p.Trp26768Ter
XM_017004822.1:c.77345G>A (TTN) XP_016860311.1:p.Trp25782Ter
XM_017004823.1:c.58961G>A (TTN) XP_016860312.1:p.Trp19654Ter
XM_024453094.1:c.80456G>A (TTN) XP_024308862.1:p.Trp26819Ter
XM_024453095.1:c.80453G>A (TTN) XP_024308863.1:p.Trp26818Ter
XM_024453096.1:c.79886G>A (TTN) XP_024308864.1:p.Trp26629Ter
XM_024453097.1:c.77228G>A (TTN) XP_024308865.1:p.Trp25743Ter
XM_024453098.1:c.77147G>A (TTN) XP_024308866.1:p.Trp25716Ter
XM_024453099.1:c.58910G>A (TTN) XP_024308867.1:p.Trp19637Ter
XM_024453100.1:c.48764G>A (TTN) XP_024308868.1:p.Trp16255Ter