Canonical Allele Identifier: CA60960621
Community Standard Title: NM_001267550.2(TTN):c.100662G>A (p.Gln33554=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178536085C>T , CM000664.2:g.178536085C>T GRCh38
NC_000002.11:g.179400812C>T , CM000664.1:g.179400812C>T GRCh37
NC_000002.10:g.179109058C>T NCBI36
NG_011618.3:g.299718G>A , LRG_391:g.299718G>A
NG_051363.1:g.18259C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.100662G>A (TTN) MANE Select NP_001254479.2:p.Gln33554=
ENST00000589042.5:c.100662G>A (TTN) MANE Select ENSP00000467141.1:p.Gln33554=
NM_001256850.1:c.95739G>A (TTN) NP_001243779.1:p.Gln31913=
NM_003319.4:c.73467G>A (TTN) NP_003310.4:p.Gln24489=
NM_133378.4:c.92958G>A (TTN) NP_596869.4:p.Gln30986=
NM_133432.3:c.73842G>A (TTN) NP_597676.3:p.Gln24614=
NM_133437.4:c.74043G>A (TTN) NP_597681.4:p.Gln24681=
NR_038271.1:n.446+12449C>T (TTN-AS1)
NR_038272.1:n.316+257C>T (TTN-AS1)
ENST00000342175.10:c.74043G>A (TTN) ENSP00000340554.6:p.Gln24681=
ENST00000342175.11:c.74043G>A (TTN) ENSP00000340554.6:p.Gln24681=
ENST00000342992.10:c.92958G>A (TTN) ENSP00000343764.6:p.Gln30986=
ENST00000342992.11:c.92958G>A (TTN) ENSP00000343764.6:p.Gln30986=
ENST00000359218.10:c.73842G>A (TTN) ENSP00000352154.5:p.Gln24614=
ENST00000359218.9:c.73842G>A (TTN) ENSP00000352154.5:p.Gln24614=
ENST00000460472.6:c.73467G>A (TTN) ENSP00000434586.1:p.Gln24489=
ENST00000591111.5:c.95739G>A (TTN) ENSP00000465570.1:p.Gln31913=
ENST00000615779.4:c.95739G>A (TTN) ENSP00000483597.1:p.Gln31913=
XM_011511729.1:c.99759G>A (TTN) XP_011510031.1:p.Gln33253=
XM_011511730.1:c.73653G>A (TTN) XP_011510032.1:p.Gln24551=
XM_011511731.1:c.73512G>A (TTN) XP_011510033.1:p.Gln24504=
XM_017004819.1:c.99555G>A (TTN) XP_016860308.1:p.Gln33185=
XM_017004820.1:c.94953G>A (TTN) XP_016860309.1:p.Gln31651=
XM_017004821.1:c.94950G>A (TTN) XP_016860310.1:p.Gln31650=
XM_017004822.1:c.91992G>A (TTN) XP_016860311.1:p.Gln30664=
XM_017004823.1:c.73608G>A (TTN) XP_016860312.1:p.Gln24536=
XM_024453094.1:c.95103G>A (TTN) XP_024308862.1:p.Gln31701=
XM_024453095.1:c.95100G>A (TTN) XP_024308863.1:p.Gln31700=
XM_024453096.1:c.94533G>A (TTN) XP_024308864.1:p.Gln31511=
XM_024453097.1:c.91875G>A (TTN) XP_024308865.1:p.Gln30625=
XM_024453098.1:c.91794G>A (TTN) XP_024308866.1:p.Gln30598=
XM_024453099.1:c.73557G>A (TTN) XP_024308867.1:p.Gln24519=
XM_024453100.1:c.63411G>A (TTN) XP_024308868.1:p.Gln21137=