Canonical Allele Identifier: CA349612328

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178568995T>G , CM000664.2:g.178568995T>G GRCh38
NC_000002.11:g.179433722T>G , CM000664.1:g.179433722T>G GRCh37
NC_000002.10:g.179141968T>G NCBI36
NG_011618.3:g.266808A>C , LRG_391:g.266808A>C
NG_051363.1:g.51169T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.69433A>C (TTN) ENSP00000343764.6:p.Asn23145His
ENST00000342175.11:c.50518A>C (TTN) ENSP00000340554.6:p.Asn16840His
ENST00000359218.10:c.50317A>C (TTN) ENSP00000352154.5:p.Asn16773His
ENST00000342175.10:c.50518A>C (TTN) ENSP00000340554.6:p.Asn16840His
ENST00000342992.10:c.69433A>C (TTN) ENSP00000343764.6:p.Asn23145His
ENST00000359218.9:c.50317A>C (TTN) ENSP00000352154.5:p.Asn16773His
ENST00000460472.6:c.49942A>C (TTN) ENSP00000434586.1:p.Asn16648His
ENST00000589042.5:c.77137A>C (TTN) MANE Select ENSP00000467141.1:p.Asn25713His
ENST00000591111.5:c.72214A>C (TTN) ENSP00000465570.1:p.Asn24072His
ENST00000615779.4:c.72214A>C (TTN) ENSP00000483597.1:p.Asn24072His
NM_001256850.1:c.72214A>C (TTN) NP_001243779.1:p.Asn24072His
NM_001267550.2:c.77137A>C (TTN) MANE Select NP_001254479.2:p.Asn25713His
NM_003319.4:c.49942A>C (TTN) NP_003310.4:p.Asn16648His
NM_133378.4:c.69433A>C (TTN) NP_596869.4:p.Asn23145His
NM_133432.3:c.50317A>C (TTN) NP_597676.3:p.Asn16773His
NM_133437.4:c.50518A>C (TTN) NP_597681.4:p.Asn16840His
NR_038271.1:n.447-2305T>G (TTN-AS1)
NR_038272.1:n.2044-13577T>G (TTN-AS1)
XM_011511729.1:c.76234A>C (TTN) XP_011510031.1:p.Asn25412His
XM_011511730.1:c.50128A>C (TTN) XP_011510032.1:p.Asn16710His
XM_011511731.1:c.49987A>C (TTN) XP_011510033.1:p.Asn16663His
XM_017004819.1:c.76030A>C (TTN) XP_016860308.1:p.Asn25344His
XM_017004820.1:c.71428A>C (TTN) XP_016860309.1:p.Asn23810His
XM_017004821.1:c.71425A>C (TTN) XP_016860310.1:p.Asn23809His
XM_017004822.1:c.68467A>C (TTN) XP_016860311.1:p.Asn22823His
XM_017004823.1:c.50083A>C (TTN) XP_016860312.1:p.Asn16695His
XM_024453094.1:c.71578A>C (TTN) XP_024308862.1:p.Asn23860His
XM_024453095.1:c.71575A>C (TTN) XP_024308863.1:p.Asn23859His
XM_024453096.1:c.71008A>C (TTN) XP_024308864.1:p.Asn23670His
XM_024453097.1:c.68350A>C (TTN) XP_024308865.1:p.Asn22784His
XM_024453098.1:c.68269A>C (TTN) XP_024308866.1:p.Asn22757His
XM_024453099.1:c.50032A>C (TTN) XP_024308867.1:p.Asn16678His
XM_024453100.1:c.39886A>C (TTN) XP_024308868.1:p.Asn13296His