Canonical Allele Identifier: CA349646151
Community Standard Title: NM_001267550.2(TTN):c.72661G>T (p.Gly24221Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178573471C>A , CM000664.2:g.178573471C>A GRCh38
NC_000002.11:g.179438198C>A , CM000664.1:g.179438198C>A GRCh37
NC_000002.10:g.179146444C>A NCBI36
NG_011618.3:g.262332G>T , LRG_391:g.262332G>T
NG_051363.1:g.55645C>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.72661G>T (TTN) MANE Select NP_001254479.2:p.Gly24221Ter
ENST00000589042.5:c.72661G>T (TTN) MANE Select ENSP00000467141.1:p.Gly24221Ter
NM_001256850.1:c.67738G>T (TTN) NP_001243779.1:p.Gly22580Ter
NM_003319.4:c.45466G>T (TTN) NP_003310.4:p.Gly15156Ter
NM_133378.4:c.64957G>T (TTN) NP_596869.4:p.Gly21653Ter
NM_133432.3:c.45841G>T (TTN) NP_597676.3:p.Gly15281Ter
NM_133437.4:c.46042G>T (TTN) NP_597681.4:p.Gly15348Ter
NR_038271.1:n.596+2022C>A (TTN-AS1)
NR_038272.1:n.2044-9101C>A (TTN-AS1)
ENST00000342175.10:c.46042G>T (TTN) ENSP00000340554.6:p.Gly15348Ter
ENST00000342175.11:c.46042G>T (TTN) ENSP00000340554.6:p.Gly15348Ter
ENST00000342992.10:c.64957G>T (TTN) ENSP00000343764.6:p.Gly21653Ter
ENST00000342992.11:c.64957G>T (TTN) ENSP00000343764.6:p.Gly21653Ter
ENST00000359218.10:c.45841G>T (TTN) ENSP00000352154.5:p.Gly15281Ter
ENST00000359218.9:c.45841G>T (TTN) ENSP00000352154.5:p.Gly15281Ter
ENST00000460472.6:c.45466G>T (TTN) ENSP00000434586.1:p.Gly15156Ter
ENST00000591111.5:c.67738G>T (TTN) ENSP00000465570.1:p.Gly22580Ter
ENST00000615779.4:c.67738G>T (TTN) ENSP00000483597.1:p.Gly22580Ter
XM_011511729.1:c.71758G>T (TTN) XP_011510031.1:p.Gly23920Ter
XM_011511730.1:c.45652G>T (TTN) XP_011510032.1:p.Gly15218Ter
XM_011511731.1:c.45511G>T (TTN) XP_011510033.1:p.Gly15171Ter
XM_017004819.1:c.71554G>T (TTN) XP_016860308.1:p.Gly23852Ter
XM_017004820.1:c.66952G>T (TTN) XP_016860309.1:p.Gly22318Ter
XM_017004821.1:c.66949G>T (TTN) XP_016860310.1:p.Gly22317Ter
XM_017004822.1:c.63991G>T (TTN) XP_016860311.1:p.Gly21331Ter
XM_017004823.1:c.45607G>T (TTN) XP_016860312.1:p.Gly15203Ter
XM_024453094.1:c.67102G>T (TTN) XP_024308862.1:p.Gly22368Ter
XM_024453095.1:c.67099G>T (TTN) XP_024308863.1:p.Gly22367Ter
XM_024453096.1:c.66532G>T (TTN) XP_024308864.1:p.Gly22178Ter
XM_024453097.1:c.63874G>T (TTN) XP_024308865.1:p.Gly21292Ter
XM_024453098.1:c.63793G>T (TTN) XP_024308866.1:p.Gly21265Ter
XM_024453099.1:c.45556G>T (TTN) XP_024308867.1:p.Gly15186Ter
XM_024453100.1:c.35410G>T (TTN) XP_024308868.1:p.Gly11804Ter