Canonical Allele Identifier: CA349455079

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544227G>A , CM000664.2:g.178544227G>A GRCh38
NC_000002.11:g.179408954G>A , CM000664.1:g.179408954G>A GRCh37
NC_000002.10:g.179117200G>A NCBI36
NG_011618.3:g.291576C>T , LRG_391:g.291576C>T
NG_051363.1:g.26401G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88298C>T (TTN) ENSP00000343764.6:p.Ala29433Val
ENST00000342175.11:c.69383C>T (TTN) ENSP00000340554.6:p.Ala23128Val
ENST00000359218.10:c.69182C>T (TTN) ENSP00000352154.5:p.Ala23061Val
ENST00000342175.10:c.69383C>T (TTN) ENSP00000340554.6:p.Ala23128Val
ENST00000342992.10:c.88298C>T (TTN) ENSP00000343764.6:p.Ala29433Val
ENST00000359218.9:c.69182C>T (TTN) ENSP00000352154.5:p.Ala23061Val
ENST00000460472.6:c.68807C>T (TTN) ENSP00000434586.1:p.Ala22936Val
ENST00000589042.5:c.96002C>T (TTN) MANE Select ENSP00000467141.1:p.Ala32001Val
ENST00000591111.5:c.91079C>T (TTN) ENSP00000465570.1:p.Ala30360Val
ENST00000615779.4:c.91079C>T (TTN) ENSP00000483597.1:p.Ala30360Val
NM_001256850.1:c.91079C>T (TTN) NP_001243779.1:p.Ala30360Val
NM_001267550.2:c.96002C>T (TTN) MANE Select NP_001254479.2:p.Ala32001Val
NM_003319.4:c.68807C>T (TTN) NP_003310.4:p.Ala22936Val
NM_133378.4:c.88298C>T (TTN) NP_596869.4:p.Ala29433Val
NM_133432.3:c.69182C>T (TTN) NP_597676.3:p.Ala23061Val
NM_133437.4:c.69383C>T (TTN) NP_597681.4:p.Ala23128Val
NR_038271.1:n.446+20591G>A (TTN-AS1)
NR_038272.1:n.2043+1866G>A (TTN-AS1)
XM_011511729.1:c.95099C>T (TTN) XP_011510031.1:p.Ala31700Val
XM_011511730.1:c.68993C>T (TTN) XP_011510032.1:p.Ala22998Val
XM_011511731.1:c.68852C>T (TTN) XP_011510033.1:p.Ala22951Val
XM_017004819.1:c.94895C>T (TTN) XP_016860308.1:p.Ala31632Val
XM_017004820.1:c.90293C>T (TTN) XP_016860309.1:p.Ala30098Val
XM_017004821.1:c.90290C>T (TTN) XP_016860310.1:p.Ala30097Val
XM_017004822.1:c.87332C>T (TTN) XP_016860311.1:p.Ala29111Val
XM_017004823.1:c.68948C>T (TTN) XP_016860312.1:p.Ala22983Val
XM_024453094.1:c.90443C>T (TTN) XP_024308862.1:p.Ala30148Val
XM_024453095.1:c.90440C>T (TTN) XP_024308863.1:p.Ala30147Val
XM_024453096.1:c.89873C>T (TTN) XP_024308864.1:p.Ala29958Val
XM_024453097.1:c.87215C>T (TTN) XP_024308865.1:p.Ala29072Val
XM_024453098.1:c.87134C>T (TTN) XP_024308866.1:p.Ala29045Val
XM_024453099.1:c.68897C>T (TTN) XP_024308867.1:p.Ala22966Val
XM_024453100.1:c.58751C>T (TTN) XP_024308868.1:p.Ala19584Val