Canonical Allele Identifier: CA430254817
Community Standard Title: NM_001267550.2(TTN):c.75642C>T (p.Ile25214=)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178570490G>A , CM000664.2:g.178570490G>A GRCh38
NC_000002.11:g.179435217G>A , CM000664.1:g.179435217G>A GRCh37
NC_000002.10:g.179143463G>A NCBI36
NG_011618.3:g.265313C>T , LRG_391:g.265313C>T
NG_051363.1:g.52664G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.75642C>T (TTN) MANE Select NP_001254479.2:p.Ile25214=
ENST00000589042.5:c.75642C>T (TTN) MANE Select ENSP00000467141.1:p.Ile25214=
NM_001256850.1:c.70719C>T (TTN) NP_001243779.1:p.Ile23573=
NM_003319.4:c.48447C>T (TTN) NP_003310.4:p.Ile16149=
NM_133378.4:c.67938C>T (TTN) NP_596869.4:p.Ile22646=
NM_133432.3:c.48822C>T (TTN) NP_597676.3:p.Ile16274=
NM_133437.4:c.49023C>T (TTN) NP_597681.4:p.Ile16341=
NR_038271.1:n.447-810G>A (TTN-AS1)
NR_038272.1:n.2044-12082G>A (TTN-AS1)
ENST00000342175.10:c.49023C>T (TTN) ENSP00000340554.6:p.Ile16341=
ENST00000342175.11:c.49023C>T (TTN) ENSP00000340554.6:p.Ile16341=
ENST00000342992.10:c.67938C>T (TTN) ENSP00000343764.6:p.Ile22646=
ENST00000342992.11:c.67938C>T (TTN) ENSP00000343764.6:p.Ile22646=
ENST00000359218.10:c.48822C>T (TTN) ENSP00000352154.5:p.Ile16274=
ENST00000359218.9:c.48822C>T (TTN) ENSP00000352154.5:p.Ile16274=
ENST00000460472.6:c.48447C>T (TTN) ENSP00000434586.1:p.Ile16149=
ENST00000591111.5:c.70719C>T (TTN) ENSP00000465570.1:p.Ile23573=
ENST00000615779.4:c.70719C>T (TTN) ENSP00000483597.1:p.Ile23573=
XM_011511729.1:c.74739C>T (TTN) XP_011510031.1:p.Ile24913=
XM_011511730.1:c.48633C>T (TTN) XP_011510032.1:p.Ile16211=
XM_011511731.1:c.48492C>T (TTN) XP_011510033.1:p.Ile16164=
XM_017004819.1:c.74535C>T (TTN) XP_016860308.1:p.Ile24845=
XM_017004820.1:c.69933C>T (TTN) XP_016860309.1:p.Ile23311=
XM_017004821.1:c.69930C>T (TTN) XP_016860310.1:p.Ile23310=
XM_017004822.1:c.66972C>T (TTN) XP_016860311.1:p.Ile22324=
XM_017004823.1:c.48588C>T (TTN) XP_016860312.1:p.Ile16196=
XM_024453094.1:c.70083C>T (TTN) XP_024308862.1:p.Ile23361=
XM_024453095.1:c.70080C>T (TTN) XP_024308863.1:p.Ile23360=
XM_024453096.1:c.69513C>T (TTN) XP_024308864.1:p.Ile23171=
XM_024453097.1:c.66855C>T (TTN) XP_024308865.1:p.Ile22285=
XM_024453098.1:c.66774C>T (TTN) XP_024308866.1:p.Ile22258=
XM_024453099.1:c.48537C>T (TTN) XP_024308867.1:p.Ile16179=
XM_024453100.1:c.38391C>T (TTN) XP_024308868.1:p.Ile12797=