Canonical Allele Identifier: CA349512605

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552661G>T , CM000664.2:g.178552661G>T GRCh38
NC_000002.11:g.179417388G>T , CM000664.1:g.179417388G>T GRCh37
NC_000002.10:g.179125634G>T NCBI36
NG_011618.3:g.283142C>A , LRG_391:g.283142C>A
NG_051363.1:g.34835G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.82535C>A (TTN) ENSP00000343764.6:p.Ala27512Asp
ENST00000342175.11:c.63620C>A (TTN) ENSP00000340554.6:p.Ala21207Asp
ENST00000359218.10:c.63419C>A (TTN) ENSP00000352154.5:p.Ala21140Asp
ENST00000342175.10:c.63620C>A (TTN) ENSP00000340554.6:p.Ala21207Asp
ENST00000342992.10:c.82535C>A (TTN) ENSP00000343764.6:p.Ala27512Asp
ENST00000359218.9:c.63419C>A (TTN) ENSP00000352154.5:p.Ala21140Asp
ENST00000460472.6:c.63044C>A (TTN) ENSP00000434586.1:p.Ala21015Asp
ENST00000589042.5:c.90239C>A (TTN) MANE Select ENSP00000467141.1:p.Ala30080Asp
ENST00000591111.5:c.85316C>A (TTN) ENSP00000465570.1:p.Ala28439Asp
ENST00000615779.4:c.85316C>A (TTN) ENSP00000483597.1:p.Ala28439Asp
NM_001256850.1:c.85316C>A (TTN) NP_001243779.1:p.Ala28439Asp
NM_001267550.2:c.90239C>A (TTN) MANE Select NP_001254479.2:p.Ala30080Asp
NM_003319.4:c.63044C>A (TTN) NP_003310.4:p.Ala21015Asp
NM_133378.4:c.82535C>A (TTN) NP_596869.4:p.Ala27512Asp
NM_133432.3:c.63419C>A (TTN) NP_597676.3:p.Ala21140Asp
NM_133437.4:c.63620C>A (TTN) NP_597681.4:p.Ala21207Asp
NR_038271.1:n.447-18639G>T (TTN-AS1)
NR_038272.1:n.2043+10300G>T (TTN-AS1)
XM_011511729.1:c.89336C>A (TTN) XP_011510031.1:p.Ala29779Asp
XM_011511730.1:c.63230C>A (TTN) XP_011510032.1:p.Ala21077Asp
XM_011511731.1:c.63089C>A (TTN) XP_011510033.1:p.Ala21030Asp
XM_017004819.1:c.89132C>A (TTN) XP_016860308.1:p.Ala29711Asp
XM_017004820.1:c.84530C>A (TTN) XP_016860309.1:p.Ala28177Asp
XM_017004821.1:c.84527C>A (TTN) XP_016860310.1:p.Ala28176Asp
XM_017004822.1:c.81569C>A (TTN) XP_016860311.1:p.Ala27190Asp
XM_017004823.1:c.63185C>A (TTN) XP_016860312.1:p.Ala21062Asp
XM_024453094.1:c.84680C>A (TTN) XP_024308862.1:p.Ala28227Asp
XM_024453095.1:c.84677C>A (TTN) XP_024308863.1:p.Ala28226Asp
XM_024453096.1:c.84110C>A (TTN) XP_024308864.1:p.Ala28037Asp
XM_024453097.1:c.81452C>A (TTN) XP_024308865.1:p.Ala27151Asp
XM_024453098.1:c.81371C>A (TTN) XP_024308866.1:p.Ala27124Asp
XM_024453099.1:c.63134C>A (TTN) XP_024308867.1:p.Ala21045Asp
XM_024453100.1:c.52988C>A (TTN) XP_024308868.1:p.Ala17663Asp