Canonical Allele Identifier: CA349405451

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530080C>G , CM000664.2:g.178530080C>G GRCh38
NC_000002.11:g.179394807C>G , CM000664.1:g.179394807C>G GRCh37
NC_000002.10:g.179103053C>G NCBI36
NG_011618.3:g.305723G>C , LRG_391:g.305723G>C
NG_051363.1:g.12254C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98707G>C (TTN) ENSP00000343764.6:p.Asp32903His
ENST00000342175.11:c.79792G>C (TTN) ENSP00000340554.6:p.Asp26598His
ENST00000359218.10:c.79591G>C (TTN) ENSP00000352154.5:p.Asp26531His
ENST00000342175.10:c.79792G>C (TTN) ENSP00000340554.6:p.Asp26598His
ENST00000342992.10:c.98707G>C (TTN) ENSP00000343764.6:p.Asp32903His
ENST00000359218.9:c.79591G>C (TTN) ENSP00000352154.5:p.Asp26531His
ENST00000460472.6:c.79216G>C (TTN) ENSP00000434586.1:p.Asp26406His
ENST00000589042.5:c.106411G>C (TTN) MANE Select ENSP00000467141.1:p.Asp35471His
ENST00000591111.5:c.101488G>C (TTN) ENSP00000465570.1:p.Asp33830His
ENST00000615779.4:c.101488G>C (TTN) ENSP00000483597.1:p.Asp33830His
NM_001256850.1:c.101488G>C (TTN) NP_001243779.1:p.Asp33830His
NM_001267550.2:c.106411G>C (TTN) MANE Select NP_001254479.2:p.Asp35471His
NM_003319.4:c.79216G>C (TTN) NP_003310.4:p.Asp26406His
NM_133378.4:c.98707G>C (TTN) NP_596869.4:p.Asp32903His
NM_133432.3:c.79591G>C (TTN) NP_597676.3:p.Asp26531His
NM_133437.4:c.79792G>C (TTN) NP_597681.4:p.Asp26598His
NR_038271.1:n.446+6444C>G (TTN-AS1)
NR_038272.1:n.220-5652C>G (TTN-AS1)
XM_011511729.1:c.105508G>C (TTN) XP_011510031.1:p.Asp35170His
XM_011511730.1:c.79402G>C (TTN) XP_011510032.1:p.Asp26468His
XM_011511731.1:c.79261G>C (TTN) XP_011510033.1:p.Asp26421His
XM_017004819.1:c.105304G>C (TTN) XP_016860308.1:p.Asp35102His
XM_017004820.1:c.100702G>C (TTN) XP_016860309.1:p.Asp33568His
XM_017004821.1:c.100699G>C (TTN) XP_016860310.1:p.Asp33567His
XM_017004822.1:c.97741G>C (TTN) XP_016860311.1:p.Asp32581His
XM_017004823.1:c.79357G>C (TTN) XP_016860312.1:p.Asp26453His
XM_024453094.1:c.100852G>C (TTN) XP_024308862.1:p.Asp33618His
XM_024453095.1:c.100849G>C (TTN) XP_024308863.1:p.Asp33617His
XM_024453096.1:c.100282G>C (TTN) XP_024308864.1:p.Asp33428His
XM_024453097.1:c.97624G>C (TTN) XP_024308865.1:p.Asp32542His
XM_024453098.1:c.97543G>C (TTN) XP_024308866.1:p.Asp32515His
XM_024453099.1:c.79306G>C (TTN) XP_024308867.1:p.Asp26436His
XM_024453100.1:c.69160G>C (TTN) XP_024308868.1:p.Asp23054His