Canonical Allele Identifier: CA349472572

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546870T>A , CM000664.2:g.178546870T>A GRCh38
NC_000002.11:g.179411597T>A , CM000664.1:g.179411597T>A GRCh37
NC_000002.10:g.179119843T>A NCBI36
NG_011618.3:g.288933A>T , LRG_391:g.288933A>T
NG_051363.1:g.29044T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.86854A>T (TTN) ENSP00000343764.6:p.Arg28952Ter
ENST00000342175.11:c.67939A>T (TTN) ENSP00000340554.6:p.Arg22647Ter
ENST00000359218.10:c.67738A>T (TTN) ENSP00000352154.5:p.Arg22580Ter
ENST00000342175.10:c.67939A>T (TTN) ENSP00000340554.6:p.Arg22647Ter
ENST00000342992.10:c.86854A>T (TTN) ENSP00000343764.6:p.Arg28952Ter
ENST00000359218.9:c.67738A>T (TTN) ENSP00000352154.5:p.Arg22580Ter
ENST00000460472.6:c.67363A>T (TTN) ENSP00000434586.1:p.Arg22455Ter
ENST00000589042.5:c.94558A>T (TTN) MANE Select ENSP00000467141.1:p.Arg31520Ter
ENST00000591111.5:c.89635A>T (TTN) ENSP00000465570.1:p.Arg29879Ter
ENST00000615779.4:c.89635A>T (TTN) ENSP00000483597.1:p.Arg29879Ter
NM_001256850.1:c.89635A>T (TTN) NP_001243779.1:p.Arg29879Ter
NM_001267550.2:c.94558A>T (TTN) MANE Select NP_001254479.2:p.Arg31520Ter
NM_003319.4:c.67363A>T (TTN) NP_003310.4:p.Arg22455Ter
NM_133378.4:c.86854A>T (TTN) NP_596869.4:p.Arg28952Ter
NM_133432.3:c.67738A>T (TTN) NP_597676.3:p.Arg22580Ter
NM_133437.4:c.67939A>T (TTN) NP_597681.4:p.Arg22647Ter
NR_038271.1:n.446+23234T>A (TTN-AS1)
NR_038272.1:n.2043+4509T>A (TTN-AS1)
XM_011511729.1:c.93655A>T (TTN) XP_011510031.1:p.Arg31219Ter
XM_011511730.1:c.67549A>T (TTN) XP_011510032.1:p.Arg22517Ter
XM_011511731.1:c.67408A>T (TTN) XP_011510033.1:p.Arg22470Ter
XM_017004819.1:c.93451A>T (TTN) XP_016860308.1:p.Arg31151Ter
XM_017004820.1:c.88849A>T (TTN) XP_016860309.1:p.Arg29617Ter
XM_017004821.1:c.88846A>T (TTN) XP_016860310.1:p.Arg29616Ter
XM_017004822.1:c.85888A>T (TTN) XP_016860311.1:p.Arg28630Ter
XM_017004823.1:c.67504A>T (TTN) XP_016860312.1:p.Arg22502Ter
XM_024453094.1:c.88999A>T (TTN) XP_024308862.1:p.Arg29667Ter
XM_024453095.1:c.88996A>T (TTN) XP_024308863.1:p.Arg29666Ter
XM_024453096.1:c.88429A>T (TTN) XP_024308864.1:p.Arg29477Ter
XM_024453097.1:c.85771A>T (TTN) XP_024308865.1:p.Arg28591Ter
XM_024453098.1:c.85690A>T (TTN) XP_024308866.1:p.Arg28564Ter
XM_024453099.1:c.67453A>T (TTN) XP_024308867.1:p.Arg22485Ter
XM_024453100.1:c.57307A>T (TTN) XP_024308868.1:p.Arg19103Ter