Canonical Allele Identifier: CA349405523

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530092T>A , CM000664.2:g.178530092T>A GRCh38
NC_000002.11:g.179394819T>A , CM000664.1:g.179394819T>A GRCh37
NC_000002.10:g.179103065T>A NCBI36
NG_011618.3:g.305711A>T , LRG_391:g.305711A>T
NG_051363.1:g.12266T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98695A>T (TTN) ENSP00000343764.6:p.Lys32899Ter
ENST00000342175.11:c.79780A>T (TTN) ENSP00000340554.6:p.Lys26594Ter
ENST00000359218.10:c.79579A>T (TTN) ENSP00000352154.5:p.Lys26527Ter
ENST00000342175.10:c.79780A>T (TTN) ENSP00000340554.6:p.Lys26594Ter
ENST00000342992.10:c.98695A>T (TTN) ENSP00000343764.6:p.Lys32899Ter
ENST00000359218.9:c.79579A>T (TTN) ENSP00000352154.5:p.Lys26527Ter
ENST00000460472.6:c.79204A>T (TTN) ENSP00000434586.1:p.Lys26402Ter
ENST00000589042.5:c.106399A>T (TTN) MANE Select ENSP00000467141.1:p.Lys35467Ter
ENST00000591111.5:c.101476A>T (TTN) ENSP00000465570.1:p.Lys33826Ter
ENST00000615779.4:c.101476A>T (TTN) ENSP00000483597.1:p.Lys33826Ter
NM_001256850.1:c.101476A>T (TTN) NP_001243779.1:p.Lys33826Ter
NM_001267550.2:c.106399A>T (TTN) MANE Select NP_001254479.2:p.Lys35467Ter
NM_003319.4:c.79204A>T (TTN) NP_003310.4:p.Lys26402Ter
NM_133378.4:c.98695A>T (TTN) NP_596869.4:p.Lys32899Ter
NM_133432.3:c.79579A>T (TTN) NP_597676.3:p.Lys26527Ter
NM_133437.4:c.79780A>T (TTN) NP_597681.4:p.Lys26594Ter
NR_038271.1:n.446+6456T>A (TTN-AS1)
NR_038272.1:n.220-5640T>A (TTN-AS1)
XM_011511729.1:c.105496A>T (TTN) XP_011510031.1:p.Lys35166Ter
XM_011511730.1:c.79390A>T (TTN) XP_011510032.1:p.Lys26464Ter
XM_011511731.1:c.79249A>T (TTN) XP_011510033.1:p.Lys26417Ter
XM_017004819.1:c.105292A>T (TTN) XP_016860308.1:p.Lys35098Ter
XM_017004820.1:c.100690A>T (TTN) XP_016860309.1:p.Lys33564Ter
XM_017004821.1:c.100687A>T (TTN) XP_016860310.1:p.Lys33563Ter
XM_017004822.1:c.97729A>T (TTN) XP_016860311.1:p.Lys32577Ter
XM_017004823.1:c.79345A>T (TTN) XP_016860312.1:p.Lys26449Ter
XM_024453094.1:c.100840A>T (TTN) XP_024308862.1:p.Lys33614Ter
XM_024453095.1:c.100837A>T (TTN) XP_024308863.1:p.Lys33613Ter
XM_024453096.1:c.100270A>T (TTN) XP_024308864.1:p.Lys33424Ter
XM_024453097.1:c.97612A>T (TTN) XP_024308865.1:p.Lys32538Ter
XM_024453098.1:c.97531A>T (TTN) XP_024308866.1:p.Lys32511Ter
XM_024453099.1:c.79294A>T (TTN) XP_024308867.1:p.Lys26432Ter
XM_024453100.1:c.69148A>T (TTN) XP_024308868.1:p.Lys23050Ter