Canonical Allele Identifier: CA349547917
Community Standard Title: NM_001267550.2(TTN):c.85790G>A (p.Trp28597Ter)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178560342C>T , CM000664.2:g.178560342C>T GRCh38
NC_000002.11:g.179425069C>T , CM000664.1:g.179425069C>T GRCh37
NC_000002.10:g.179133315C>T NCBI36
NG_011618.3:g.275461G>A , LRG_391:g.275461G>A
NG_051363.1:g.42516C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.85790G>A (TTN) MANE Select NP_001254479.2:p.Trp28597Ter
ENST00000589042.5:c.85790G>A (TTN) MANE Select ENSP00000467141.1:p.Trp28597Ter
NM_001256850.1:c.80867G>A (TTN) NP_001243779.1:p.Trp26956Ter
NM_003319.4:c.58595G>A (TTN) NP_003310.4:p.Trp19532Ter
NM_133378.4:c.78086G>A (TTN) NP_596869.4:p.Trp26029Ter
NM_133432.3:c.58970G>A (TTN) NP_597676.3:p.Trp19657Ter
NM_133437.4:c.59171G>A (TTN) NP_597681.4:p.Trp19724Ter
NR_038271.1:n.447-10958C>T (TTN-AS1)
NR_038272.1:n.2043+17981C>T (TTN-AS1)
ENST00000342175.10:c.59171G>A (TTN) ENSP00000340554.6:p.Trp19724Ter
ENST00000342175.11:c.59171G>A (TTN) ENSP00000340554.6:p.Trp19724Ter
ENST00000342992.10:c.78086G>A (TTN) ENSP00000343764.6:p.Trp26029Ter
ENST00000342992.11:c.78086G>A (TTN) ENSP00000343764.6:p.Trp26029Ter
ENST00000359218.10:c.58970G>A (TTN) ENSP00000352154.5:p.Trp19657Ter
ENST00000359218.9:c.58970G>A (TTN) ENSP00000352154.5:p.Trp19657Ter
ENST00000460472.6:c.58595G>A (TTN) ENSP00000434586.1:p.Trp19532Ter
ENST00000591111.5:c.80867G>A (TTN) ENSP00000465570.1:p.Trp26956Ter
ENST00000615779.4:c.80867G>A (TTN) ENSP00000483597.1:p.Trp26956Ter
XM_011511729.1:c.84887G>A (TTN) XP_011510031.1:p.Trp28296Ter
XM_011511730.1:c.58781G>A (TTN) XP_011510032.1:p.Trp19594Ter
XM_011511731.1:c.58640G>A (TTN) XP_011510033.1:p.Trp19547Ter
XM_017004819.1:c.84683G>A (TTN) XP_016860308.1:p.Trp28228Ter
XM_017004820.1:c.80081G>A (TTN) XP_016860309.1:p.Trp26694Ter
XM_017004821.1:c.80078G>A (TTN) XP_016860310.1:p.Trp26693Ter
XM_017004822.1:c.77120G>A (TTN) XP_016860311.1:p.Trp25707Ter
XM_017004823.1:c.58736G>A (TTN) XP_016860312.1:p.Trp19579Ter
XM_024453094.1:c.80231G>A (TTN) XP_024308862.1:p.Trp26744Ter
XM_024453095.1:c.80228G>A (TTN) XP_024308863.1:p.Trp26743Ter
XM_024453096.1:c.79661G>A (TTN) XP_024308864.1:p.Trp26554Ter
XM_024453097.1:c.77003G>A (TTN) XP_024308865.1:p.Trp25668Ter
XM_024453098.1:c.76922G>A (TTN) XP_024308866.1:p.Trp25641Ter
XM_024453099.1:c.58685G>A (TTN) XP_024308867.1:p.Trp19562Ter
XM_024453100.1:c.48539G>A (TTN) XP_024308868.1:p.Trp16180Ter