Canonical Allele Identifier: CA349451164

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543922T>A , CM000664.2:g.178543922T>A GRCh38
NC_000002.11:g.179408649T>A , CM000664.1:g.179408649T>A GRCh37
NC_000002.10:g.179116895T>A NCBI36
NG_011618.3:g.291881A>T , LRG_391:g.291881A>T
NG_051363.1:g.26096T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88518A>T (TTN) ENSP00000343764.6:p.Lys29506Asn
ENST00000342175.11:c.69603A>T (TTN) ENSP00000340554.6:p.Lys23201Asn
ENST00000359218.10:c.69402A>T (TTN) ENSP00000352154.5:p.Lys23134Asn
ENST00000342175.10:c.69603A>T (TTN) ENSP00000340554.6:p.Lys23201Asn
ENST00000342992.10:c.88518A>T (TTN) ENSP00000343764.6:p.Lys29506Asn
ENST00000359218.9:c.69402A>T (TTN) ENSP00000352154.5:p.Lys23134Asn
ENST00000460472.6:c.69027A>T (TTN) ENSP00000434586.1:p.Lys23009Asn
ENST00000589042.5:c.96222A>T (TTN) MANE Select ENSP00000467141.1:p.Lys32074Asn
ENST00000591111.5:c.91299A>T (TTN) ENSP00000465570.1:p.Lys30433Asn
ENST00000615779.4:c.91299A>T (TTN) ENSP00000483597.1:p.Lys30433Asn
NM_001256850.1:c.91299A>T (TTN) NP_001243779.1:p.Lys30433Asn
NM_001267550.2:c.96222A>T (TTN) MANE Select NP_001254479.2:p.Lys32074Asn
NM_003319.4:c.69027A>T (TTN) NP_003310.4:p.Lys23009Asn
NM_133378.4:c.88518A>T (TTN) NP_596869.4:p.Lys29506Asn
NM_133432.3:c.69402A>T (TTN) NP_597676.3:p.Lys23134Asn
NM_133437.4:c.69603A>T (TTN) NP_597681.4:p.Lys23201Asn
NR_038271.1:n.446+20286T>A (TTN-AS1)
NR_038272.1:n.2043+1561T>A (TTN-AS1)
XM_011511729.1:c.95319A>T (TTN) XP_011510031.1:p.Lys31773Asn
XM_011511730.1:c.69213A>T (TTN) XP_011510032.1:p.Lys23071Asn
XM_011511731.1:c.69072A>T (TTN) XP_011510033.1:p.Lys23024Asn
XM_017004819.1:c.95115A>T (TTN) XP_016860308.1:p.Lys31705Asn
XM_017004820.1:c.90513A>T (TTN) XP_016860309.1:p.Lys30171Asn
XM_017004821.1:c.90510A>T (TTN) XP_016860310.1:p.Lys30170Asn
XM_017004822.1:c.87552A>T (TTN) XP_016860311.1:p.Lys29184Asn
XM_017004823.1:c.69168A>T (TTN) XP_016860312.1:p.Lys23056Asn
XM_024453094.1:c.90663A>T (TTN) XP_024308862.1:p.Lys30221Asn
XM_024453095.1:c.90660A>T (TTN) XP_024308863.1:p.Lys30220Asn
XM_024453096.1:c.90093A>T (TTN) XP_024308864.1:p.Lys30031Asn
XM_024453097.1:c.87435A>T (TTN) XP_024308865.1:p.Lys29145Asn
XM_024453098.1:c.87354A>T (TTN) XP_024308866.1:p.Lys29118Asn
XM_024453099.1:c.69117A>T (TTN) XP_024308867.1:p.Lys23039Asn
XM_024453100.1:c.58971A>T (TTN) XP_024308868.1:p.Lys19657Asn