Canonical Allele Identifier: CA349535068

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178557715C>A , CM000664.2:g.178557715C>A GRCh38
NC_000002.11:g.179422442C>A , CM000664.1:g.179422442C>A GRCh37
NC_000002.10:g.179130688C>A NCBI36
NG_011618.3:g.278088G>T , LRG_391:g.278088G>T
NG_051363.1:g.39889C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.79935G>T (TTN) ENSP00000343764.6:p.Lys26645Asn
ENST00000342175.11:c.61020G>T (TTN) ENSP00000340554.6:p.Lys20340Asn
ENST00000359218.10:c.60819G>T (TTN) ENSP00000352154.5:p.Lys20273Asn
ENST00000342175.10:c.61020G>T (TTN) ENSP00000340554.6:p.Lys20340Asn
ENST00000342992.10:c.79935G>T (TTN) ENSP00000343764.6:p.Lys26645Asn
ENST00000359218.9:c.60819G>T (TTN) ENSP00000352154.5:p.Lys20273Asn
ENST00000460472.6:c.60444G>T (TTN) ENSP00000434586.1:p.Lys20148Asn
ENST00000589042.5:c.87639G>T (TTN) MANE Select ENSP00000467141.1:p.Lys29213Asn
ENST00000591111.5:c.82716G>T (TTN) ENSP00000465570.1:p.Lys27572Asn
ENST00000615779.4:c.82716G>T (TTN) ENSP00000483597.1:p.Lys27572Asn
NM_001256850.1:c.82716G>T (TTN) NP_001243779.1:p.Lys27572Asn
NM_001267550.2:c.87639G>T (TTN) MANE Select NP_001254479.2:p.Lys29213Asn
NM_003319.4:c.60444G>T (TTN) NP_003310.4:p.Lys20148Asn
NM_133378.4:c.79935G>T (TTN) NP_596869.4:p.Lys26645Asn
NM_133432.3:c.60819G>T (TTN) NP_597676.3:p.Lys20273Asn
NM_133437.4:c.61020G>T (TTN) NP_597681.4:p.Lys20340Asn
NR_038271.1:n.447-13585C>A (TTN-AS1)
NR_038272.1:n.2043+15354C>A (TTN-AS1)
XM_011511729.1:c.86736G>T (TTN) XP_011510031.1:p.Lys28912Asn
XM_011511730.1:c.60630G>T (TTN) XP_011510032.1:p.Lys20210Asn
XM_011511731.1:c.60489G>T (TTN) XP_011510033.1:p.Lys20163Asn
XM_017004819.1:c.86532G>T (TTN) XP_016860308.1:p.Lys28844Asn
XM_017004820.1:c.81930G>T (TTN) XP_016860309.1:p.Lys27310Asn
XM_017004821.1:c.81927G>T (TTN) XP_016860310.1:p.Lys27309Asn
XM_017004822.1:c.78969G>T (TTN) XP_016860311.1:p.Lys26323Asn
XM_017004823.1:c.60585G>T (TTN) XP_016860312.1:p.Lys20195Asn
XM_024453094.1:c.82080G>T (TTN) XP_024308862.1:p.Lys27360Asn
XM_024453095.1:c.82077G>T (TTN) XP_024308863.1:p.Lys27359Asn
XM_024453096.1:c.81510G>T (TTN) XP_024308864.1:p.Lys27170Asn
XM_024453097.1:c.78852G>T (TTN) XP_024308865.1:p.Lys26284Asn
XM_024453098.1:c.78771G>T (TTN) XP_024308866.1:p.Lys26257Asn
XM_024453099.1:c.60534G>T (TTN) XP_024308867.1:p.Lys20178Asn
XM_024453100.1:c.50388G>T (TTN) XP_024308868.1:p.Lys16796Asn