Canonical Allele Identifier: CA1992977
Community Standard Title: NM_001267550.2(TTN):c.57848-5C>T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178594651G>A , CM000664.2:g.178594651G>A GRCh38
NC_000002.11:g.179459378G>A , CM000664.1:g.179459378G>A GRCh37
NC_000002.10:g.179167624G>A NCBI36
NG_011618.3:g.241152C>T , LRG_391:g.241152C>T
NG_051363.1:g.76825G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.57848-5C>T (TTN) MANE Select NP_001254479.2:n.57848-5C>T
ENST00000589042.5:c.57848-5C>T (TTN) MANE Select ENSP00000467141.1:n.57848-5C>T
NM_001256850.1:c.52925-5C>T (TTN) NP_001243779.1:n.52925-5C>T
NM_003319.4:c.30653-5C>T (TTN) NP_003310.4:n.30653-5C>T
NM_133378.4:c.50144-5C>T (TTN) NP_596869.4:n.50144-5C>T
NM_133432.3:c.31028-5C>T (TTN) NP_597676.3:n.31028-5C>T
NM_133437.4:c.31229-5C>T (TTN) NP_597681.4:n.31229-5C>T
NR_038271.1:n.597-2945G>A (TTN-AS1)
NR_038272.1:n.3365-2945G>A (TTN-AS1)
ENST00000342175.10:c.31229-5C>T (TTN) ENSP00000340554.6:n.31229-5C>T
ENST00000342175.11:c.31229-5C>T (TTN) ENSP00000340554.6:n.31229-5C>T
ENST00000342992.10:c.50144-5C>T (TTN) ENSP00000343764.6:n.50144-5C>T
ENST00000342992.11:c.50144-5C>T (TTN) ENSP00000343764.6:n.50144-5C>T
ENST00000359218.10:c.31028-5C>T (TTN) ENSP00000352154.5:n.31028-5C>T
ENST00000359218.9:c.31028-5C>T (TTN) ENSP00000352154.5:n.31028-5C>T
ENST00000460472.6:c.30653-5C>T (TTN) ENSP00000434586.1:n.30653-5C>T
ENST00000591111.5:c.52925-5C>T (TTN) ENSP00000465570.1:n.52925-5C>T
ENST00000615779.4:c.52925-5C>T (TTN) ENSP00000483597.1:n.52925-5C>T
XM_011511729.1:c.56945-5C>T (TTN) XP_011510031.1:n.56945-5C>T
XM_011511730.1:c.30839-5C>T (TTN) XP_011510032.1:n.30839-5C>T
XM_011511731.1:c.30698-5C>T (TTN) XP_011510033.1:n.30698-5C>T
XM_017004819.1:c.56741-5C>T (TTN) XP_016860308.1:n.56741-5C>T
XM_017004820.1:c.52139-5C>T (TTN) XP_016860309.1:n.52139-5C>T
XM_017004821.1:c.52136-5C>T (TTN) XP_016860310.1:n.52136-5C>T
XM_017004822.1:c.49178-5C>T (TTN) XP_016860311.1:n.49178-5C>T
XM_017004823.1:c.30794-5C>T (TTN) XP_016860312.1:n.30794-5C>T
XM_024453094.1:c.52289-5C>T (TTN) XP_024308862.1:n.52289-5C>T
XM_024453095.1:c.52286-5C>T (TTN) XP_024308863.1:n.52286-5C>T
XM_024453096.1:c.51719-5C>T (TTN) XP_024308864.1:n.51719-5C>T
XM_024453097.1:c.49061-5C>T (TTN) XP_024308865.1:n.49061-5C>T
XM_024453098.1:c.48980-5C>T (TTN) XP_024308866.1:n.48980-5C>T
XM_024453099.1:c.30743-5C>T (TTN) XP_024308867.1:n.30743-5C>T
XM_024453100.1:c.20597-5C>T (TTN) XP_024308868.1:n.20597-5C>T