Canonical Allele Identifier: CA349600110
Community Standard Title: NM_001267550.2(TTN):c.49970G>A (p.Trp16657Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178612555C>T , CM000664.2:g.178612555C>T GRCh38
NC_000002.11:g.179477282C>T , CM000664.1:g.179477282C>T GRCh37
NC_000002.10:g.179185527C>T NCBI36
NG_011618.3:g.223248G>A , LRG_391:g.223248G>A
NG_051363.1:g.94729C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.49970G>A (TTN) MANE Select NP_001254479.2:p.Trp16657Ter
ENST00000589042.5:c.49970G>A (TTN) MANE Select ENSP00000467141.1:p.Trp16657Ter
NM_001256850.1:c.45047G>A (TTN) NP_001243779.1:p.Trp15016Ter
NM_003319.4:c.22775G>A (TTN) NP_003310.4:p.Trp7592Ter
NM_133378.4:c.42266G>A (TTN) NP_596869.4:p.Trp14089Ter
NM_133432.3:c.23150G>A (TTN) NP_597676.3:p.Trp7717Ter
NM_133437.4:c.23351G>A (TTN) NP_597681.4:p.Trp7784Ter
NR_038271.1:n.783-1480C>T (TTN-AS1)
ENST00000342175.10:c.23351G>A (TTN) ENSP00000340554.6:p.Trp7784Ter
ENST00000342175.11:c.23351G>A (TTN) ENSP00000340554.6:p.Trp7784Ter
ENST00000342992.10:c.42266G>A (TTN) ENSP00000343764.6:p.Trp14089Ter
ENST00000342992.11:c.42266G>A (TTN) ENSP00000343764.6:p.Trp14089Ter
ENST00000359218.10:c.23150G>A (TTN) ENSP00000352154.5:p.Trp7717Ter
ENST00000359218.9:c.23150G>A (TTN) ENSP00000352154.5:p.Trp7717Ter
ENST00000460472.6:c.22775G>A (TTN) ENSP00000434586.1:p.Trp7592Ter
ENST00000591111.5:c.45047G>A (TTN) ENSP00000465570.1:p.Trp15016Ter
ENST00000615779.4:c.45047G>A (TTN) ENSP00000483597.1:p.Trp15016Ter
XM_011511729.1:c.49067G>A (TTN) XP_011510031.1:p.Trp16356Ter
XM_011511730.1:c.22961G>A (TTN) XP_011510032.1:p.Trp7654Ter
XM_011511731.1:c.22820G>A (TTN) XP_011510033.1:p.Trp7607Ter
XM_017004819.1:c.48863G>A (TTN) XP_016860308.1:p.Trp16288Ter
XM_017004820.1:c.44261G>A (TTN) XP_016860309.1:p.Trp14754Ter
XM_017004821.1:c.44258G>A (TTN) XP_016860310.1:p.Trp14753Ter
XM_017004822.1:c.41300G>A (TTN) XP_016860311.1:p.Trp13767Ter
XM_017004823.1:c.22916G>A (TTN) XP_016860312.1:p.Trp7639Ter
XM_024453094.1:c.44411G>A (TTN) XP_024308862.1:p.Trp14804Ter
XM_024453095.1:c.44408G>A (TTN) XP_024308863.1:p.Trp14803Ter
XM_024453096.1:c.43841G>A (TTN) XP_024308864.1:p.Trp14614Ter
XM_024453097.1:c.41183G>A (TTN) XP_024308865.1:p.Trp13728Ter
XM_024453098.1:c.41102G>A (TTN) XP_024308866.1:p.Trp13701Ter
XM_024453099.1:c.22865G>A (TTN) XP_024308867.1:p.Trp7622Ter
XM_024453100.1:c.12719G>A (TTN) XP_024308868.1:p.Trp4240Ter