Canonical Allele Identifier: CA349582530

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178609684C>T , CM000664.2:g.178609684C>T GRCh38
NC_000002.11:g.179474411C>T , CM000664.1:g.179474411C>T GRCh37
NC_000002.10:g.179182656C>T NCBI36
NG_011618.3:g.226119G>A , LRG_391:g.226119G>A
NG_051363.1:g.91858C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.44035G>A (TTN) ENSP00000343764.6:p.Asp14679Asn
ENST00000342175.11:c.25120G>A (TTN) ENSP00000340554.6:p.Asp8374Asn
ENST00000359218.10:c.24919G>A (TTN) ENSP00000352154.5:p.Asp8307Asn
ENST00000342175.10:c.25120G>A (TTN) ENSP00000340554.6:p.Asp8374Asn
ENST00000342992.10:c.44035G>A (TTN) ENSP00000343764.6:p.Asp14679Asn
ENST00000359218.9:c.24919G>A (TTN) ENSP00000352154.5:p.Asp8307Asn
ENST00000460472.6:c.24544G>A (TTN) ENSP00000434586.1:p.Asp8182Asn
ENST00000589042.5:c.51739G>A (TTN) MANE Select ENSP00000467141.1:p.Asp17247Asn
ENST00000591111.5:c.46816G>A (TTN) ENSP00000465570.1:p.Asp15606Asn
ENST00000615779.4:c.46816G>A (TTN) ENSP00000483597.1:p.Asp15606Asn
NM_001256850.1:c.46816G>A (TTN) NP_001243779.1:p.Asp15606Asn
NM_001267550.2:c.51739G>A (TTN) MANE Select NP_001254479.2:p.Asp17247Asn
NM_003319.4:c.24544G>A (TTN) NP_003310.4:p.Asp8182Asn
NM_133378.4:c.44035G>A (TTN) NP_596869.4:p.Asp14679Asn
NM_133432.3:c.24919G>A (TTN) NP_597676.3:p.Asp8307Asn
NM_133437.4:c.25120G>A (TTN) NP_597681.4:p.Asp8374Asn
NR_038271.1:n.782+1418C>T (TTN-AS1)
XM_011511729.1:c.50836G>A (TTN) XP_011510031.1:p.Asp16946Asn
XM_011511730.1:c.24730G>A (TTN) XP_011510032.1:p.Asp8244Asn
XM_011511731.1:c.24589G>A (TTN) XP_011510033.1:p.Asp8197Asn
XM_017004819.1:c.50632G>A (TTN) XP_016860308.1:p.Asp16878Asn
XM_017004820.1:c.46030G>A (TTN) XP_016860309.1:p.Asp15344Asn
XM_017004821.1:c.46027G>A (TTN) XP_016860310.1:p.Asp15343Asn
XM_017004822.1:c.43069G>A (TTN) XP_016860311.1:p.Asp14357Asn
XM_017004823.1:c.24685G>A (TTN) XP_016860312.1:p.Asp8229Asn
XM_024453094.1:c.46180G>A (TTN) XP_024308862.1:p.Asp15394Asn
XM_024453095.1:c.46177G>A (TTN) XP_024308863.1:p.Asp15393Asn
XM_024453096.1:c.45610G>A (TTN) XP_024308864.1:p.Asp15204Asn
XM_024453097.1:c.42952G>A (TTN) XP_024308865.1:p.Asp14318Asn
XM_024453098.1:c.42871G>A (TTN) XP_024308866.1:p.Asp14291Asn
XM_024453099.1:c.24634G>A (TTN) XP_024308867.1:p.Asp8212Asn
XM_024453100.1:c.14488G>A (TTN) XP_024308868.1:p.Asp4830Asn