Canonical Allele Identifier: CA349535607

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178557799C>T , CM000664.2:g.178557799C>T GRCh38
NC_000002.11:g.179422526C>T , CM000664.1:g.179422526C>T GRCh37
NC_000002.10:g.179130772C>T NCBI36
NG_011618.3:g.278004G>A , LRG_391:g.278004G>A
NG_051363.1:g.39973C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.79851G>A (TTN) ENSP00000343764.6:p.Trp26617Ter
ENST00000342175.11:c.60936G>A (TTN) ENSP00000340554.6:p.Trp20312Ter
ENST00000359218.10:c.60735G>A (TTN) ENSP00000352154.5:p.Trp20245Ter
ENST00000342175.10:c.60936G>A (TTN) ENSP00000340554.6:p.Trp20312Ter
ENST00000342992.10:c.79851G>A (TTN) ENSP00000343764.6:p.Trp26617Ter
ENST00000359218.9:c.60735G>A (TTN) ENSP00000352154.5:p.Trp20245Ter
ENST00000460472.6:c.60360G>A (TTN) ENSP00000434586.1:p.Trp20120Ter
ENST00000589042.5:c.87555G>A (TTN) MANE Select ENSP00000467141.1:p.Trp29185Ter
ENST00000591111.5:c.82632G>A (TTN) ENSP00000465570.1:p.Trp27544Ter
ENST00000615779.4:c.82632G>A (TTN) ENSP00000483597.1:p.Trp27544Ter
NM_001256850.1:c.82632G>A (TTN) NP_001243779.1:p.Trp27544Ter
NM_001267550.2:c.87555G>A (TTN) MANE Select NP_001254479.2:p.Trp29185Ter
NM_003319.4:c.60360G>A (TTN) NP_003310.4:p.Trp20120Ter
NM_133378.4:c.79851G>A (TTN) NP_596869.4:p.Trp26617Ter
NM_133432.3:c.60735G>A (TTN) NP_597676.3:p.Trp20245Ter
NM_133437.4:c.60936G>A (TTN) NP_597681.4:p.Trp20312Ter
NR_038271.1:n.447-13501C>T (TTN-AS1)
NR_038272.1:n.2043+15438C>T (TTN-AS1)
XM_011511729.1:c.86652G>A (TTN) XP_011510031.1:p.Trp28884Ter
XM_011511730.1:c.60546G>A (TTN) XP_011510032.1:p.Trp20182Ter
XM_011511731.1:c.60405G>A (TTN) XP_011510033.1:p.Trp20135Ter
XM_017004819.1:c.86448G>A (TTN) XP_016860308.1:p.Trp28816Ter
XM_017004820.1:c.81846G>A (TTN) XP_016860309.1:p.Trp27282Ter
XM_017004821.1:c.81843G>A (TTN) XP_016860310.1:p.Trp27281Ter
XM_017004822.1:c.78885G>A (TTN) XP_016860311.1:p.Trp26295Ter
XM_017004823.1:c.60501G>A (TTN) XP_016860312.1:p.Trp20167Ter
XM_024453094.1:c.81996G>A (TTN) XP_024308862.1:p.Trp27332Ter
XM_024453095.1:c.81993G>A (TTN) XP_024308863.1:p.Trp27331Ter
XM_024453096.1:c.81426G>A (TTN) XP_024308864.1:p.Trp27142Ter
XM_024453097.1:c.78768G>A (TTN) XP_024308865.1:p.Trp26256Ter
XM_024453098.1:c.78687G>A (TTN) XP_024308866.1:p.Trp26229Ter
XM_024453099.1:c.60450G>A (TTN) XP_024308867.1:p.Trp20150Ter
XM_024453100.1:c.50304G>A (TTN) XP_024308868.1:p.Trp16768Ter