Canonical Allele Identifier: CA1988593
Community Standard Title: NM_001267550.2(TTN):c.85746A>C (p.Ile28582=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178560386T>G , CM000664.2:g.178560386T>G GRCh38
NC_000002.11:g.179425113T>G , CM000664.1:g.179425113T>G GRCh37
NC_000002.10:g.179133359T>G NCBI36
NG_011618.3:g.275417A>C , LRG_391:g.275417A>C
NG_051363.1:g.42560T>G

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.85746A>C (TTN) MANE Select NP_001254479.2:p.Ile28582=
ENST00000589042.5:c.85746A>C (TTN) MANE Select ENSP00000467141.1:p.Ile28582=
NM_001256850.1:c.80823A>C (TTN) NP_001243779.1:p.Ile26941=
NM_003319.4:c.58551A>C (TTN) NP_003310.4:p.Ile19517=
NM_133378.4:c.78042A>C (TTN) NP_596869.4:p.Ile26014=
NM_133432.3:c.58926A>C (TTN) NP_597676.3:p.Ile19642=
NM_133437.4:c.59127A>C (TTN) NP_597681.4:p.Ile19709=
NR_038271.1:n.447-10914T>G (TTN-AS1)
NR_038272.1:n.2043+18025T>G (TTN-AS1)
ENST00000342175.10:c.59127A>C (TTN) ENSP00000340554.6:p.Ile19709=
ENST00000342175.11:c.59127A>C (TTN) ENSP00000340554.6:p.Ile19709=
ENST00000342992.10:c.78042A>C (TTN) ENSP00000343764.6:p.Ile26014=
ENST00000342992.11:c.78042A>C (TTN) ENSP00000343764.6:p.Ile26014=
ENST00000359218.10:c.58926A>C (TTN) ENSP00000352154.5:p.Ile19642=
ENST00000359218.9:c.58926A>C (TTN) ENSP00000352154.5:p.Ile19642=
ENST00000460472.6:c.58551A>C (TTN) ENSP00000434586.1:p.Ile19517=
ENST00000591111.5:c.80823A>C (TTN) ENSP00000465570.1:p.Ile26941=
ENST00000615779.4:c.80823A>C (TTN) ENSP00000483597.1:p.Ile26941=
XM_011511729.1:c.84843A>C (TTN) XP_011510031.1:p.Ile28281=
XM_011511730.1:c.58737A>C (TTN) XP_011510032.1:p.Ile19579=
XM_011511731.1:c.58596A>C (TTN) XP_011510033.1:p.Ile19532=
XM_017004819.1:c.84639A>C (TTN) XP_016860308.1:p.Ile28213=
XM_017004820.1:c.80037A>C (TTN) XP_016860309.1:p.Ile26679=
XM_017004821.1:c.80034A>C (TTN) XP_016860310.1:p.Ile26678=
XM_017004822.1:c.77076A>C (TTN) XP_016860311.1:p.Ile25692=
XM_017004823.1:c.58692A>C (TTN) XP_016860312.1:p.Ile19564=
XM_024453094.1:c.80187A>C (TTN) XP_024308862.1:p.Ile26729=
XM_024453095.1:c.80184A>C (TTN) XP_024308863.1:p.Ile26728=
XM_024453096.1:c.79617A>C (TTN) XP_024308864.1:p.Ile26539=
XM_024453097.1:c.76959A>C (TTN) XP_024308865.1:p.Ile25653=
XM_024453098.1:c.76878A>C (TTN) XP_024308866.1:p.Ile25626=
XM_024453099.1:c.58641A>C (TTN) XP_024308867.1:p.Ile19547=
XM_024453100.1:c.48495A>C (TTN) XP_024308868.1:p.Ile16165=