Canonical Allele Identifier: CA349407115

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530552C>A , CM000664.2:g.178530552C>A GRCh38
NC_000002.11:g.179395279C>A , CM000664.1:g.179395279C>A GRCh37
NC_000002.10:g.179103525C>A NCBI36
NG_011618.3:g.305251G>T , LRG_391:g.305251G>T
NG_051363.1:g.12726C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98359G>T (TTN) ENSP00000343764.6:p.Gly32787Ter
ENST00000342175.11:c.79444G>T (TTN) ENSP00000340554.6:p.Gly26482Ter
ENST00000359218.10:c.79243G>T (TTN) ENSP00000352154.5:p.Gly26415Ter
ENST00000342175.10:c.79444G>T (TTN) ENSP00000340554.6:p.Gly26482Ter
ENST00000342992.10:c.98359G>T (TTN) ENSP00000343764.6:p.Gly32787Ter
ENST00000359218.9:c.79243G>T (TTN) ENSP00000352154.5:p.Gly26415Ter
ENST00000460472.6:c.78868G>T (TTN) ENSP00000434586.1:p.Gly26290Ter
ENST00000589042.5:c.106063G>T (TTN) MANE Select ENSP00000467141.1:p.Gly35355Ter
ENST00000591111.5:c.101140G>T (TTN) ENSP00000465570.1:p.Gly33714Ter
ENST00000615779.4:c.101140G>T (TTN) ENSP00000483597.1:p.Gly33714Ter
NM_001256850.1:c.101140G>T (TTN) NP_001243779.1:p.Gly33714Ter
NM_001267550.2:c.106063G>T (TTN) MANE Select NP_001254479.2:p.Gly35355Ter
NM_003319.4:c.78868G>T (TTN) NP_003310.4:p.Gly26290Ter
NM_133378.4:c.98359G>T (TTN) NP_596869.4:p.Gly32787Ter
NM_133432.3:c.79243G>T (TTN) NP_597676.3:p.Gly26415Ter
NM_133437.4:c.79444G>T (TTN) NP_597681.4:p.Gly26482Ter
NR_038271.1:n.446+6916C>A (TTN-AS1)
NR_038272.1:n.220-5180C>A (TTN-AS1)
XM_011511729.1:c.105160G>T (TTN) XP_011510031.1:p.Gly35054Ter
XM_011511730.1:c.79054G>T (TTN) XP_011510032.1:p.Gly26352Ter
XM_011511731.1:c.78913G>T (TTN) XP_011510033.1:p.Gly26305Ter
XM_017004819.1:c.104956G>T (TTN) XP_016860308.1:p.Gly34986Ter
XM_017004820.1:c.100354G>T (TTN) XP_016860309.1:p.Gly33452Ter
XM_017004821.1:c.100351G>T (TTN) XP_016860310.1:p.Gly33451Ter
XM_017004822.1:c.97393G>T (TTN) XP_016860311.1:p.Gly32465Ter
XM_017004823.1:c.79009G>T (TTN) XP_016860312.1:p.Gly26337Ter
XM_024453094.1:c.100504G>T (TTN) XP_024308862.1:p.Gly33502Ter
XM_024453095.1:c.100501G>T (TTN) XP_024308863.1:p.Gly33501Ter
XM_024453096.1:c.99934G>T (TTN) XP_024308864.1:p.Gly33312Ter
XM_024453097.1:c.97276G>T (TTN) XP_024308865.1:p.Gly32426Ter
XM_024453098.1:c.97195G>T (TTN) XP_024308866.1:p.Gly32399Ter
XM_024453099.1:c.78958G>T (TTN) XP_024308867.1:p.Gly26320Ter
XM_024453100.1:c.68812G>T (TTN) XP_024308868.1:p.Gly22938Ter