Canonical Allele Identifier: CA349423101

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178579299C>A , CM000664.2:g.178579299C>A GRCh38
NC_000002.11:g.179444026C>A , CM000664.1:g.179444026C>A GRCh37
NC_000002.10:g.179152272C>A NCBI36
NG_011618.3:g.256504G>T , LRG_391:g.256504G>T
NG_051363.1:g.61473C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.60027G>T (TTN) ENSP00000343764.6:p.Lys20009Asn
ENST00000342175.11:c.41112G>T (TTN) ENSP00000340554.6:p.Lys13704Asn
ENST00000359218.10:c.40911G>T (TTN) ENSP00000352154.5:p.Lys13637Asn
ENST00000342175.10:c.41112G>T (TTN) ENSP00000340554.6:p.Lys13704Asn
ENST00000342992.10:c.60027G>T (TTN) ENSP00000343764.6:p.Lys20009Asn
ENST00000359218.9:c.40911G>T (TTN) ENSP00000352154.5:p.Lys13637Asn
ENST00000460472.6:c.40536G>T (TTN) ENSP00000434586.1:p.Lys13512Asn
ENST00000589042.5:c.67731G>T (TTN) MANE Select ENSP00000467141.1:p.Lys22577Asn
ENST00000591111.5:c.62808G>T (TTN) ENSP00000465570.1:p.Lys20936Asn
ENST00000615779.4:c.62808G>T (TTN) ENSP00000483597.1:p.Lys20936Asn
NM_001256850.1:c.62808G>T (TTN) NP_001243779.1:p.Lys20936Asn
NM_001267550.2:c.67731G>T (TTN) MANE Select NP_001254479.2:p.Lys22577Asn
NM_003319.4:c.40536G>T (TTN) NP_003310.4:p.Lys13512Asn
NM_133378.4:c.60027G>T (TTN) NP_596869.4:p.Lys20009Asn
NM_133432.3:c.40911G>T (TTN) NP_597676.3:p.Lys13637Asn
NM_133437.4:c.41112G>T (TTN) NP_597681.4:p.Lys13704Asn
NR_038271.1:n.596+7850C>A (TTN-AS1)
NR_038272.1:n.2044-3273C>A (TTN-AS1)
XM_011511729.1:c.66828G>T (TTN) XP_011510031.1:p.Lys22276Asn
XM_011511730.1:c.40722G>T (TTN) XP_011510032.1:p.Lys13574Asn
XM_011511731.1:c.40581G>T (TTN) XP_011510033.1:p.Lys13527Asn
XM_017004819.1:c.66624G>T (TTN) XP_016860308.1:p.Lys22208Asn
XM_017004820.1:c.62022G>T (TTN) XP_016860309.1:p.Lys20674Asn
XM_017004821.1:c.62019G>T (TTN) XP_016860310.1:p.Lys20673Asn
XM_017004822.1:c.59061G>T (TTN) XP_016860311.1:p.Lys19687Asn
XM_017004823.1:c.40677G>T (TTN) XP_016860312.1:p.Lys13559Asn
XM_024453094.1:c.62172G>T (TTN) XP_024308862.1:p.Lys20724Asn
XM_024453095.1:c.62169G>T (TTN) XP_024308863.1:p.Lys20723Asn
XM_024453096.1:c.61602G>T (TTN) XP_024308864.1:p.Lys20534Asn
XM_024453097.1:c.58944G>T (TTN) XP_024308865.1:p.Lys19648Asn
XM_024453098.1:c.58863G>T (TTN) XP_024308866.1:p.Lys19621Asn
XM_024453099.1:c.40626G>T (TTN) XP_024308867.1:p.Lys13542Asn
XM_024453100.1:c.30480G>T (TTN) XP_024308868.1:p.Lys10160Asn