Canonical Allele Identifier: CA349411835

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532223T>A , CM000664.2:g.178532223T>A GRCh38
NC_000002.11:g.179396950T>A , CM000664.1:g.179396950T>A GRCh37
NC_000002.10:g.179105196T>A NCBI36
NG_011618.3:g.303580A>T , LRG_391:g.303580A>T
NG_051363.1:g.14397T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96688A>T (TTN) ENSP00000343764.6:p.Lys32230Ter
ENST00000342175.11:c.77773A>T (TTN) ENSP00000340554.6:p.Lys25925Ter
ENST00000359218.10:c.77572A>T (TTN) ENSP00000352154.5:p.Lys25858Ter
ENST00000342175.10:c.77773A>T (TTN) ENSP00000340554.6:p.Lys25925Ter
ENST00000342992.10:c.96688A>T (TTN) ENSP00000343764.6:p.Lys32230Ter
ENST00000359218.9:c.77572A>T (TTN) ENSP00000352154.5:p.Lys25858Ter
ENST00000460472.6:c.77197A>T (TTN) ENSP00000434586.1:p.Lys25733Ter
ENST00000589042.5:c.104392A>T (TTN) MANE Select ENSP00000467141.1:p.Lys34798Ter
ENST00000591111.5:c.99469A>T (TTN) ENSP00000465570.1:p.Lys33157Ter
ENST00000615779.4:c.99469A>T (TTN) ENSP00000483597.1:p.Lys33157Ter
NM_001256850.1:c.99469A>T (TTN) NP_001243779.1:p.Lys33157Ter
NM_001267550.2:c.104392A>T (TTN) MANE Select NP_001254479.2:p.Lys34798Ter
NM_003319.4:c.77197A>T (TTN) NP_003310.4:p.Lys25733Ter
NM_133378.4:c.96688A>T (TTN) NP_596869.4:p.Lys32230Ter
NM_133432.3:c.77572A>T (TTN) NP_597676.3:p.Lys25858Ter
NM_133437.4:c.77773A>T (TTN) NP_597681.4:p.Lys25925Ter
NR_038271.1:n.446+8587T>A (TTN-AS1)
NR_038272.1:n.220-3509T>A (TTN-AS1)
XM_011511729.1:c.103489A>T (TTN) XP_011510031.1:p.Lys34497Ter
XM_011511730.1:c.77383A>T (TTN) XP_011510032.1:p.Lys25795Ter
XM_011511731.1:c.77242A>T (TTN) XP_011510033.1:p.Lys25748Ter
XM_017004819.1:c.103285A>T (TTN) XP_016860308.1:p.Lys34429Ter
XM_017004820.1:c.98683A>T (TTN) XP_016860309.1:p.Lys32895Ter
XM_017004821.1:c.98680A>T (TTN) XP_016860310.1:p.Lys32894Ter
XM_017004822.1:c.95722A>T (TTN) XP_016860311.1:p.Lys31908Ter
XM_017004823.1:c.77338A>T (TTN) XP_016860312.1:p.Lys25780Ter
XM_024453094.1:c.98833A>T (TTN) XP_024308862.1:p.Lys32945Ter
XM_024453095.1:c.98830A>T (TTN) XP_024308863.1:p.Lys32944Ter
XM_024453096.1:c.98263A>T (TTN) XP_024308864.1:p.Lys32755Ter
XM_024453097.1:c.95605A>T (TTN) XP_024308865.1:p.Lys31869Ter
XM_024453098.1:c.95524A>T (TTN) XP_024308866.1:p.Lys31842Ter
XM_024453099.1:c.77287A>T (TTN) XP_024308867.1:p.Lys25763Ter
XM_024453100.1:c.67141A>T (TTN) XP_024308868.1:p.Lys22381Ter