Canonical Allele Identifier: CA349423119

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178579307T>A , CM000664.2:g.178579307T>A GRCh38
NC_000002.11:g.179444034T>A , CM000664.1:g.179444034T>A GRCh37
NC_000002.10:g.179152280T>A NCBI36
NG_011618.3:g.256496A>T , LRG_391:g.256496A>T
NG_051363.1:g.61481T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.60019A>T (TTN) ENSP00000343764.6:p.Lys20007Ter
ENST00000342175.11:c.41104A>T (TTN) ENSP00000340554.6:p.Lys13702Ter
ENST00000359218.10:c.40903A>T (TTN) ENSP00000352154.5:p.Lys13635Ter
ENST00000342175.10:c.41104A>T (TTN) ENSP00000340554.6:p.Lys13702Ter
ENST00000342992.10:c.60019A>T (TTN) ENSP00000343764.6:p.Lys20007Ter
ENST00000359218.9:c.40903A>T (TTN) ENSP00000352154.5:p.Lys13635Ter
ENST00000460472.6:c.40528A>T (TTN) ENSP00000434586.1:p.Lys13510Ter
ENST00000589042.5:c.67723A>T (TTN) MANE Select ENSP00000467141.1:p.Lys22575Ter
ENST00000591111.5:c.62800A>T (TTN) ENSP00000465570.1:p.Lys20934Ter
ENST00000615779.4:c.62800A>T (TTN) ENSP00000483597.1:p.Lys20934Ter
NM_001256850.1:c.62800A>T (TTN) NP_001243779.1:p.Lys20934Ter
NM_001267550.2:c.67723A>T (TTN) MANE Select NP_001254479.2:p.Lys22575Ter
NM_003319.4:c.40528A>T (TTN) NP_003310.4:p.Lys13510Ter
NM_133378.4:c.60019A>T (TTN) NP_596869.4:p.Lys20007Ter
NM_133432.3:c.40903A>T (TTN) NP_597676.3:p.Lys13635Ter
NM_133437.4:c.41104A>T (TTN) NP_597681.4:p.Lys13702Ter
NR_038271.1:n.596+7858T>A (TTN-AS1)
NR_038272.1:n.2044-3265T>A (TTN-AS1)
XM_011511729.1:c.66820A>T (TTN) XP_011510031.1:p.Lys22274Ter
XM_011511730.1:c.40714A>T (TTN) XP_011510032.1:p.Lys13572Ter
XM_011511731.1:c.40573A>T (TTN) XP_011510033.1:p.Lys13525Ter
XM_017004819.1:c.66616A>T (TTN) XP_016860308.1:p.Lys22206Ter
XM_017004820.1:c.62014A>T (TTN) XP_016860309.1:p.Lys20672Ter
XM_017004821.1:c.62011A>T (TTN) XP_016860310.1:p.Lys20671Ter
XM_017004822.1:c.59053A>T (TTN) XP_016860311.1:p.Lys19685Ter
XM_017004823.1:c.40669A>T (TTN) XP_016860312.1:p.Lys13557Ter
XM_024453094.1:c.62164A>T (TTN) XP_024308862.1:p.Lys20722Ter
XM_024453095.1:c.62161A>T (TTN) XP_024308863.1:p.Lys20721Ter
XM_024453096.1:c.61594A>T (TTN) XP_024308864.1:p.Lys20532Ter
XM_024453097.1:c.58936A>T (TTN) XP_024308865.1:p.Lys19646Ter
XM_024453098.1:c.58855A>T (TTN) XP_024308866.1:p.Lys19619Ter
XM_024453099.1:c.40618A>T (TTN) XP_024308867.1:p.Lys13540Ter
XM_024453100.1:c.30472A>T (TTN) XP_024308868.1:p.Lys10158Ter