Canonical Allele Identifier: CA349564258

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178562312G>T , CM000664.2:g.178562312G>T GRCh38
NC_000002.11:g.179427039G>T , CM000664.1:g.179427039G>T GRCh37
NC_000002.10:g.179135285G>T NCBI36
NG_011618.3:g.273491C>A , LRG_391:g.273491C>A
NG_051363.1:g.44486G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.76116C>A (TTN) ENSP00000343764.6:p.Asn25372Lys
ENST00000342175.11:c.57201C>A (TTN) ENSP00000340554.6:p.Asn19067Lys
ENST00000359218.10:c.57000C>A (TTN) ENSP00000352154.5:p.Asn19000Lys
ENST00000342175.10:c.57201C>A (TTN) ENSP00000340554.6:p.Asn19067Lys
ENST00000342992.10:c.76116C>A (TTN) ENSP00000343764.6:p.Asn25372Lys
ENST00000359218.9:c.57000C>A (TTN) ENSP00000352154.5:p.Asn19000Lys
ENST00000460472.6:c.56625C>A (TTN) ENSP00000434586.1:p.Asn18875Lys
ENST00000589042.5:c.83820C>A (TTN) MANE Select ENSP00000467141.1:p.Asn27940Lys
ENST00000591111.5:c.78897C>A (TTN) ENSP00000465570.1:p.Asn26299Lys
ENST00000615779.4:c.78897C>A (TTN) ENSP00000483597.1:p.Asn26299Lys
NM_001256850.1:c.78897C>A (TTN) NP_001243779.1:p.Asn26299Lys
NM_001267550.2:c.83820C>A (TTN) MANE Select NP_001254479.2:p.Asn27940Lys
NM_003319.4:c.56625C>A (TTN) NP_003310.4:p.Asn18875Lys
NM_133378.4:c.76116C>A (TTN) NP_596869.4:p.Asn25372Lys
NM_133432.3:c.57000C>A (TTN) NP_597676.3:p.Asn19000Lys
NM_133437.4:c.57201C>A (TTN) NP_597681.4:p.Asn19067Lys
NR_038271.1:n.447-8988G>T (TTN-AS1)
NR_038272.1:n.2043+19951G>T (TTN-AS1)
XM_011511729.1:c.82917C>A (TTN) XP_011510031.1:p.Asn27639Lys
XM_011511730.1:c.56811C>A (TTN) XP_011510032.1:p.Asn18937Lys
XM_011511731.1:c.56670C>A (TTN) XP_011510033.1:p.Asn18890Lys
XM_017004819.1:c.82713C>A (TTN) XP_016860308.1:p.Asn27571Lys
XM_017004820.1:c.78111C>A (TTN) XP_016860309.1:p.Asn26037Lys
XM_017004821.1:c.78108C>A (TTN) XP_016860310.1:p.Asn26036Lys
XM_017004822.1:c.75150C>A (TTN) XP_016860311.1:p.Asn25050Lys
XM_017004823.1:c.56766C>A (TTN) XP_016860312.1:p.Asn18922Lys
XM_024453094.1:c.78261C>A (TTN) XP_024308862.1:p.Asn26087Lys
XM_024453095.1:c.78258C>A (TTN) XP_024308863.1:p.Asn26086Lys
XM_024453096.1:c.77691C>A (TTN) XP_024308864.1:p.Asn25897Lys
XM_024453097.1:c.75033C>A (TTN) XP_024308865.1:p.Asn25011Lys
XM_024453098.1:c.74952C>A (TTN) XP_024308866.1:p.Asn24984Lys
XM_024453099.1:c.56715C>A (TTN) XP_024308867.1:p.Asn18905Lys
XM_024453100.1:c.46569C>A (TTN) XP_024308868.1:p.Asn15523Lys