Canonical Allele Identifier: CA349471259

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546740A>C , CM000664.2:g.178546740A>C GRCh38
NC_000002.11:g.179411467A>C , CM000664.1:g.179411467A>C GRCh37
NC_000002.10:g.179119713A>C NCBI36
NG_011618.3:g.289063T>G , LRG_391:g.289063T>G
NG_051363.1:g.28914A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.86984T>G (TTN) ENSP00000343764.6:p.Ile28995Ser
ENST00000342175.11:c.68069T>G (TTN) ENSP00000340554.6:p.Ile22690Ser
ENST00000359218.10:c.67868T>G (TTN) ENSP00000352154.5:p.Ile22623Ser
ENST00000342175.10:c.68069T>G (TTN) ENSP00000340554.6:p.Ile22690Ser
ENST00000342992.10:c.86984T>G (TTN) ENSP00000343764.6:p.Ile28995Ser
ENST00000359218.9:c.67868T>G (TTN) ENSP00000352154.5:p.Ile22623Ser
ENST00000460472.6:c.67493T>G (TTN) ENSP00000434586.1:p.Ile22498Ser
ENST00000589042.5:c.94688T>G (TTN) MANE Select ENSP00000467141.1:p.Ile31563Ser
ENST00000591111.5:c.89765T>G (TTN) ENSP00000465570.1:p.Ile29922Ser
ENST00000615779.4:c.89765T>G (TTN) ENSP00000483597.1:p.Ile29922Ser
NM_001256850.1:c.89765T>G (TTN) NP_001243779.1:p.Ile29922Ser
NM_001267550.2:c.94688T>G (TTN) MANE Select NP_001254479.2:p.Ile31563Ser
NM_003319.4:c.67493T>G (TTN) NP_003310.4:p.Ile22498Ser
NM_133378.4:c.86984T>G (TTN) NP_596869.4:p.Ile28995Ser
NM_133432.3:c.67868T>G (TTN) NP_597676.3:p.Ile22623Ser
NM_133437.4:c.68069T>G (TTN) NP_597681.4:p.Ile22690Ser
NR_038271.1:n.446+23104A>C (TTN-AS1)
NR_038272.1:n.2043+4379A>C (TTN-AS1)
XM_011511729.1:c.93785T>G (TTN) XP_011510031.1:p.Ile31262Ser
XM_011511730.1:c.67679T>G (TTN) XP_011510032.1:p.Ile22560Ser
XM_011511731.1:c.67538T>G (TTN) XP_011510033.1:p.Ile22513Ser
XM_017004819.1:c.93581T>G (TTN) XP_016860308.1:p.Ile31194Ser
XM_017004820.1:c.88979T>G (TTN) XP_016860309.1:p.Ile29660Ser
XM_017004821.1:c.88976T>G (TTN) XP_016860310.1:p.Ile29659Ser
XM_017004822.1:c.86018T>G (TTN) XP_016860311.1:p.Ile28673Ser
XM_017004823.1:c.67634T>G (TTN) XP_016860312.1:p.Ile22545Ser
XM_024453094.1:c.89129T>G (TTN) XP_024308862.1:p.Ile29710Ser
XM_024453095.1:c.89126T>G (TTN) XP_024308863.1:p.Ile29709Ser
XM_024453096.1:c.88559T>G (TTN) XP_024308864.1:p.Ile29520Ser
XM_024453097.1:c.85901T>G (TTN) XP_024308865.1:p.Ile28634Ser
XM_024453098.1:c.85820T>G (TTN) XP_024308866.1:p.Ile28607Ser
XM_024453099.1:c.67583T>G (TTN) XP_024308867.1:p.Ile22528Ser
XM_024453100.1:c.57437T>G (TTN) XP_024308868.1:p.Ile19146Ser