Canonical Allele Identifier: CA349672173

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178577997C>T , CM000664.2:g.178577997C>T GRCh38
NC_000002.11:g.179442724C>T , CM000664.1:g.179442724C>T GRCh37
NC_000002.10:g.179150970C>T NCBI36
NG_011618.3:g.257806G>A , LRG_391:g.257806G>A
NG_051363.1:g.60171C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.60814G>A (TTN) ENSP00000343764.6:p.Asp20272Asn
ENST00000342175.11:c.41899G>A (TTN) ENSP00000340554.6:p.Asp13967Asn
ENST00000359218.10:c.41698G>A (TTN) ENSP00000352154.5:p.Asp13900Asn
ENST00000342175.10:c.41899G>A (TTN) ENSP00000340554.6:p.Asp13967Asn
ENST00000342992.10:c.60814G>A (TTN) ENSP00000343764.6:p.Asp20272Asn
ENST00000359218.9:c.41698G>A (TTN) ENSP00000352154.5:p.Asp13900Asn
ENST00000460472.6:c.41323G>A (TTN) ENSP00000434586.1:p.Asp13775Asn
ENST00000589042.5:c.68518G>A (TTN) MANE Select ENSP00000467141.1:p.Asp22840Asn
ENST00000591111.5:c.63595G>A (TTN) ENSP00000465570.1:p.Asp21199Asn
ENST00000615779.4:c.63595G>A (TTN) ENSP00000483597.1:p.Asp21199Asn
NM_001256850.1:c.63595G>A (TTN) NP_001243779.1:p.Asp21199Asn
NM_001267550.2:c.68518G>A (TTN) MANE Select NP_001254479.2:p.Asp22840Asn
NM_003319.4:c.41323G>A (TTN) NP_003310.4:p.Asp13775Asn
NM_133378.4:c.60814G>A (TTN) NP_596869.4:p.Asp20272Asn
NM_133432.3:c.41698G>A (TTN) NP_597676.3:p.Asp13900Asn
NM_133437.4:c.41899G>A (TTN) NP_597681.4:p.Asp13967Asn
NR_038271.1:n.596+6548C>T (TTN-AS1)
NR_038272.1:n.2044-4575C>T (TTN-AS1)
XM_011511729.1:c.67615G>A (TTN) XP_011510031.1:p.Asp22539Asn
XM_011511730.1:c.41509G>A (TTN) XP_011510032.1:p.Asp13837Asn
XM_011511731.1:c.41368G>A (TTN) XP_011510033.1:p.Asp13790Asn
XM_017004819.1:c.67411G>A (TTN) XP_016860308.1:p.Asp22471Asn
XM_017004820.1:c.62809G>A (TTN) XP_016860309.1:p.Asp20937Asn
XM_017004821.1:c.62806G>A (TTN) XP_016860310.1:p.Asp20936Asn
XM_017004822.1:c.59848G>A (TTN) XP_016860311.1:p.Asp19950Asn
XM_017004823.1:c.41464G>A (TTN) XP_016860312.1:p.Asp13822Asn
XM_024453094.1:c.62959G>A (TTN) XP_024308862.1:p.Asp20987Asn
XM_024453095.1:c.62956G>A (TTN) XP_024308863.1:p.Asp20986Asn
XM_024453096.1:c.62389G>A (TTN) XP_024308864.1:p.Asp20797Asn
XM_024453097.1:c.59731G>A (TTN) XP_024308865.1:p.Asp19911Asn
XM_024453098.1:c.59650G>A (TTN) XP_024308866.1:p.Asp19884Asn
XM_024453099.1:c.41413G>A (TTN) XP_024308867.1:p.Asp13805Asn
XM_024453100.1:c.31267G>A (TTN) XP_024308868.1:p.Asp10423Asn