Canonical Allele Identifier: CA1985860
Community Standard Title: NM_001267550.2(TTN):c.101622C>T (p.Asn33874=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178534993G>A , CM000664.2:g.178534993G>A GRCh38
NC_000002.11:g.179399720G>A , CM000664.1:g.179399720G>A GRCh37
NC_000002.10:g.179107966G>A NCBI36
NG_011618.3:g.300810C>T , LRG_391:g.300810C>T
NG_051363.1:g.17167G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.101622C>T (TTN) MANE Select NP_001254479.2:p.Asn33874=
ENST00000589042.5:c.101622C>T (TTN) MANE Select ENSP00000467141.1:p.Asn33874=
NM_001256850.1:c.96699C>T (TTN) NP_001243779.1:p.Asn32233=
NM_003319.4:c.74427C>T (TTN) NP_003310.4:p.Asn24809=
NM_133378.4:c.93918C>T (TTN) NP_596869.4:p.Asn31306=
NM_133432.3:c.74802C>T (TTN) NP_597676.3:p.Asn24934=
NM_133437.4:c.75003C>T (TTN) NP_597681.4:p.Asn25001=
NR_038271.1:n.446+11357G>A (TTN-AS1)
NR_038272.1:n.220-739G>A (TTN-AS1)
ENST00000342175.10:c.75003C>T (TTN) ENSP00000340554.6:p.Asn25001=
ENST00000342175.11:c.75003C>T (TTN) ENSP00000340554.6:p.Asn25001=
ENST00000342992.10:c.93918C>T (TTN) ENSP00000343764.6:p.Asn31306=
ENST00000342992.11:c.93918C>T (TTN) ENSP00000343764.6:p.Asn31306=
ENST00000359218.10:c.74802C>T (TTN) ENSP00000352154.5:p.Asn24934=
ENST00000359218.9:c.74802C>T (TTN) ENSP00000352154.5:p.Asn24934=
ENST00000460472.6:c.74427C>T (TTN) ENSP00000434586.1:p.Asn24809=
ENST00000591111.5:c.96699C>T (TTN) ENSP00000465570.1:p.Asn32233=
ENST00000615779.4:c.96699C>T (TTN) ENSP00000483597.1:p.Asn32233=
XM_011511729.1:c.100719C>T (TTN) XP_011510031.1:p.Asn33573=
XM_011511730.1:c.74613C>T (TTN) XP_011510032.1:p.Asn24871=
XM_011511731.1:c.74472C>T (TTN) XP_011510033.1:p.Asn24824=
XM_017004819.1:c.100515C>T (TTN) XP_016860308.1:p.Asn33505=
XM_017004820.1:c.95913C>T (TTN) XP_016860309.1:p.Asn31971=
XM_017004821.1:c.95910C>T (TTN) XP_016860310.1:p.Asn31970=
XM_017004822.1:c.92952C>T (TTN) XP_016860311.1:p.Asn30984=
XM_017004823.1:c.74568C>T (TTN) XP_016860312.1:p.Asn24856=
XM_024453094.1:c.96063C>T (TTN) XP_024308862.1:p.Asn32021=
XM_024453095.1:c.96060C>T (TTN) XP_024308863.1:p.Asn32020=
XM_024453096.1:c.95493C>T (TTN) XP_024308864.1:p.Asn31831=
XM_024453097.1:c.92835C>T (TTN) XP_024308865.1:p.Asn30945=
XM_024453098.1:c.92754C>T (TTN) XP_024308866.1:p.Asn30918=
XM_024453099.1:c.74517C>T (TTN) XP_024308867.1:p.Asn24839=
XM_024453100.1:c.64371C>T (TTN) XP_024308868.1:p.Asn21457=