Canonical Allele Identifier: CA349406556

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530395T>A , CM000664.2:g.178530395T>A GRCh38
NC_000002.11:g.179395122T>A , CM000664.1:g.179395122T>A GRCh37
NC_000002.10:g.179103368T>A NCBI36
NG_011618.3:g.305408A>T , LRG_391:g.305408A>T
NG_051363.1:g.12569T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98516A>T (TTN) ENSP00000343764.6:p.Lys32839Ile
ENST00000342175.11:c.79601A>T (TTN) ENSP00000340554.6:p.Lys26534Ile
ENST00000359218.10:c.79400A>T (TTN) ENSP00000352154.5:p.Lys26467Ile
ENST00000342175.10:c.79601A>T (TTN) ENSP00000340554.6:p.Lys26534Ile
ENST00000342992.10:c.98516A>T (TTN) ENSP00000343764.6:p.Lys32839Ile
ENST00000359218.9:c.79400A>T (TTN) ENSP00000352154.5:p.Lys26467Ile
ENST00000460472.6:c.79025A>T (TTN) ENSP00000434586.1:p.Lys26342Ile
ENST00000589042.5:c.106220A>T (TTN) MANE Select ENSP00000467141.1:p.Lys35407Ile
ENST00000591111.5:c.101297A>T (TTN) ENSP00000465570.1:p.Lys33766Ile
ENST00000615779.4:c.101297A>T (TTN) ENSP00000483597.1:p.Lys33766Ile
NM_001256850.1:c.101297A>T (TTN) NP_001243779.1:p.Lys33766Ile
NM_001267550.2:c.106220A>T (TTN) MANE Select NP_001254479.2:p.Lys35407Ile
NM_003319.4:c.79025A>T (TTN) NP_003310.4:p.Lys26342Ile
NM_133378.4:c.98516A>T (TTN) NP_596869.4:p.Lys32839Ile
NM_133432.3:c.79400A>T (TTN) NP_597676.3:p.Lys26467Ile
NM_133437.4:c.79601A>T (TTN) NP_597681.4:p.Lys26534Ile
NR_038271.1:n.446+6759T>A (TTN-AS1)
NR_038272.1:n.220-5337T>A (TTN-AS1)
XM_011511729.1:c.105317A>T (TTN) XP_011510031.1:p.Lys35106Ile
XM_011511730.1:c.79211A>T (TTN) XP_011510032.1:p.Lys26404Ile
XM_011511731.1:c.79070A>T (TTN) XP_011510033.1:p.Lys26357Ile
XM_017004819.1:c.105113A>T (TTN) XP_016860308.1:p.Lys35038Ile
XM_017004820.1:c.100511A>T (TTN) XP_016860309.1:p.Lys33504Ile
XM_017004821.1:c.100508A>T (TTN) XP_016860310.1:p.Lys33503Ile
XM_017004822.1:c.97550A>T (TTN) XP_016860311.1:p.Lys32517Ile
XM_017004823.1:c.79166A>T (TTN) XP_016860312.1:p.Lys26389Ile
XM_024453094.1:c.100661A>T (TTN) XP_024308862.1:p.Lys33554Ile
XM_024453095.1:c.100658A>T (TTN) XP_024308863.1:p.Lys33553Ile
XM_024453096.1:c.100091A>T (TTN) XP_024308864.1:p.Lys33364Ile
XM_024453097.1:c.97433A>T (TTN) XP_024308865.1:p.Lys32478Ile
XM_024453098.1:c.97352A>T (TTN) XP_024308866.1:p.Lys32451Ile
XM_024453099.1:c.79115A>T (TTN) XP_024308867.1:p.Lys26372Ile
XM_024453100.1:c.68969A>T (TTN) XP_024308868.1:p.Lys22990Ile