Canonical Allele Identifier: CA349411850

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532229C>A , CM000664.2:g.178532229C>A GRCh38
NC_000002.11:g.179396956C>A , CM000664.1:g.179396956C>A GRCh37
NC_000002.10:g.179105202C>A NCBI36
NG_011618.3:g.303574G>T , LRG_391:g.303574G>T
NG_051363.1:g.14403C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96682G>T (TTN) ENSP00000343764.6:p.Glu32228Ter
ENST00000342175.11:c.77767G>T (TTN) ENSP00000340554.6:p.Glu25923Ter
ENST00000359218.10:c.77566G>T (TTN) ENSP00000352154.5:p.Glu25856Ter
ENST00000342175.10:c.77767G>T (TTN) ENSP00000340554.6:p.Glu25923Ter
ENST00000342992.10:c.96682G>T (TTN) ENSP00000343764.6:p.Glu32228Ter
ENST00000359218.9:c.77566G>T (TTN) ENSP00000352154.5:p.Glu25856Ter
ENST00000460472.6:c.77191G>T (TTN) ENSP00000434586.1:p.Glu25731Ter
ENST00000589042.5:c.104386G>T (TTN) MANE Select ENSP00000467141.1:p.Glu34796Ter
ENST00000591111.5:c.99463G>T (TTN) ENSP00000465570.1:p.Glu33155Ter
ENST00000615779.4:c.99463G>T (TTN) ENSP00000483597.1:p.Glu33155Ter
NM_001256850.1:c.99463G>T (TTN) NP_001243779.1:p.Glu33155Ter
NM_001267550.2:c.104386G>T (TTN) MANE Select NP_001254479.2:p.Glu34796Ter
NM_003319.4:c.77191G>T (TTN) NP_003310.4:p.Glu25731Ter
NM_133378.4:c.96682G>T (TTN) NP_596869.4:p.Glu32228Ter
NM_133432.3:c.77566G>T (TTN) NP_597676.3:p.Glu25856Ter
NM_133437.4:c.77767G>T (TTN) NP_597681.4:p.Glu25923Ter
NR_038271.1:n.446+8593C>A (TTN-AS1)
NR_038272.1:n.220-3503C>A (TTN-AS1)
XM_011511729.1:c.103483G>T (TTN) XP_011510031.1:p.Glu34495Ter
XM_011511730.1:c.77377G>T (TTN) XP_011510032.1:p.Glu25793Ter
XM_011511731.1:c.77236G>T (TTN) XP_011510033.1:p.Glu25746Ter
XM_017004819.1:c.103279G>T (TTN) XP_016860308.1:p.Glu34427Ter
XM_017004820.1:c.98677G>T (TTN) XP_016860309.1:p.Glu32893Ter
XM_017004821.1:c.98674G>T (TTN) XP_016860310.1:p.Glu32892Ter
XM_017004822.1:c.95716G>T (TTN) XP_016860311.1:p.Glu31906Ter
XM_017004823.1:c.77332G>T (TTN) XP_016860312.1:p.Glu25778Ter
XM_024453094.1:c.98827G>T (TTN) XP_024308862.1:p.Glu32943Ter
XM_024453095.1:c.98824G>T (TTN) XP_024308863.1:p.Glu32942Ter
XM_024453096.1:c.98257G>T (TTN) XP_024308864.1:p.Glu32753Ter
XM_024453097.1:c.95599G>T (TTN) XP_024308865.1:p.Glu31867Ter
XM_024453098.1:c.95518G>T (TTN) XP_024308866.1:p.Glu31840Ter
XM_024453099.1:c.77281G>T (TTN) XP_024308867.1:p.Glu25761Ter
XM_024453100.1:c.67135G>T (TTN) XP_024308868.1:p.Glu22379Ter