Canonical Allele Identifier: CA349607621

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178614638C>T , CM000664.2:g.178614638C>T GRCh38
NC_000002.11:g.179479365C>T , CM000664.1:g.179479365C>T GRCh37
NC_000002.10:g.179187610C>T NCBI36
NG_011618.3:g.221165G>A , LRG_391:g.221165G>A
NG_051363.1:g.96812C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.41172G>A (TTN) ENSP00000343764.6:p.Trp13724Ter
ENST00000342175.11:c.22257G>A (TTN) ENSP00000340554.6:p.Trp7419Ter
ENST00000359218.10:c.22056G>A (TTN) ENSP00000352154.5:p.Trp7352Ter
ENST00000342175.10:c.22257G>A (TTN) ENSP00000340554.6:p.Trp7419Ter
ENST00000342992.10:c.41172G>A (TTN) ENSP00000343764.6:p.Trp13724Ter
ENST00000359218.9:c.22056G>A (TTN) ENSP00000352154.5:p.Trp7352Ter
ENST00000460472.6:c.21681G>A (TTN) ENSP00000434586.1:p.Trp7227Ter
ENST00000589042.5:c.48876G>A (TTN) MANE Select ENSP00000467141.1:p.Trp16292Ter
ENST00000591111.5:c.43953G>A (TTN) ENSP00000465570.1:p.Trp14651Ter
ENST00000615779.4:c.43953G>A (TTN) ENSP00000483597.1:p.Trp14651Ter
NM_001256850.1:c.43953G>A (TTN) NP_001243779.1:p.Trp14651Ter
NM_001267550.2:c.48876G>A (TTN) MANE Select NP_001254479.2:p.Trp16292Ter
NM_003319.4:c.21681G>A (TTN) NP_003310.4:p.Trp7227Ter
NM_133378.4:c.41172G>A (TTN) NP_596869.4:p.Trp13724Ter
NM_133432.3:c.22056G>A (TTN) NP_597676.3:p.Trp7352Ter
NM_133437.4:c.22257G>A (TTN) NP_597681.4:p.Trp7419Ter
NR_038271.1:n.1386C>T (TTN-AS1)
XM_011511729.1:c.47973G>A (TTN) XP_011510031.1:p.Trp15991Ter
XM_011511730.1:c.21867G>A (TTN) XP_011510032.1:p.Trp7289Ter
XM_011511731.1:c.21726G>A (TTN) XP_011510033.1:p.Trp7242Ter
XM_017004819.1:c.47769G>A (TTN) XP_016860308.1:p.Trp15923Ter
XM_017004820.1:c.43167G>A (TTN) XP_016860309.1:p.Trp14389Ter
XM_017004821.1:c.43164G>A (TTN) XP_016860310.1:p.Trp14388Ter
XM_017004822.1:c.40206G>A (TTN) XP_016860311.1:p.Trp13402Ter
XM_017004823.1:c.21822G>A (TTN) XP_016860312.1:p.Trp7274Ter
XM_024453094.1:c.43317G>A (TTN) XP_024308862.1:p.Trp14439Ter
XM_024453095.1:c.43314G>A (TTN) XP_024308863.1:p.Trp14438Ter
XM_024453096.1:c.42747G>A (TTN) XP_024308864.1:p.Trp14249Ter
XM_024453097.1:c.40089G>A (TTN) XP_024308865.1:p.Trp13363Ter
XM_024453098.1:c.40008G>A (TTN) XP_024308866.1:p.Trp13336Ter
XM_024453099.1:c.21771G>A (TTN) XP_024308867.1:p.Trp7257Ter
XM_024453100.1:c.11625G>A (TTN) XP_024308868.1:p.Trp3875Ter