Canonical Allele Identifier: CA349604957

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178613922G>C , CM000664.2:g.178613922G>C GRCh38
NC_000002.11:g.179478649G>C , CM000664.1:g.179478649G>C GRCh37
NC_000002.10:g.179186894G>C NCBI36
NG_011618.3:g.221881C>G , LRG_391:g.221881C>G
NG_051363.1:g.96096G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.41657C>G (TTN) ENSP00000343764.6:p.Pro13886Arg
ENST00000342175.11:c.22742C>G (TTN) ENSP00000340554.6:p.Pro7581Arg
ENST00000359218.10:c.22541C>G (TTN) ENSP00000352154.5:p.Pro7514Arg
ENST00000342175.10:c.22742C>G (TTN) ENSP00000340554.6:p.Pro7581Arg
ENST00000342992.10:c.41657C>G (TTN) ENSP00000343764.6:p.Pro13886Arg
ENST00000359218.9:c.22541C>G (TTN) ENSP00000352154.5:p.Pro7514Arg
ENST00000460472.6:c.22166C>G (TTN) ENSP00000434586.1:p.Pro7389Arg
ENST00000589042.5:c.49361C>G (TTN) MANE Select ENSP00000467141.1:p.Pro16454Arg
ENST00000591111.5:c.44438C>G (TTN) ENSP00000465570.1:p.Pro14813Arg
ENST00000615779.4:c.44438C>G (TTN) ENSP00000483597.1:p.Pro14813Arg
NM_001256850.1:c.44438C>G (TTN) NP_001243779.1:p.Pro14813Arg
NM_001267550.2:c.49361C>G (TTN) MANE Select NP_001254479.2:p.Pro16454Arg
NM_003319.4:c.22166C>G (TTN) NP_003310.4:p.Pro7389Arg
NM_133378.4:c.41657C>G (TTN) NP_596869.4:p.Pro13886Arg
NM_133432.3:c.22541C>G (TTN) NP_597676.3:p.Pro7514Arg
NM_133437.4:c.22742C>G (TTN) NP_597681.4:p.Pro7581Arg
NR_038271.1:n.783-113G>C (TTN-AS1)
XM_011511729.1:c.48458C>G (TTN) XP_011510031.1:p.Pro16153Arg
XM_011511730.1:c.22352C>G (TTN) XP_011510032.1:p.Pro7451Arg
XM_011511731.1:c.22211C>G (TTN) XP_011510033.1:p.Pro7404Arg
XM_017004819.1:c.48254C>G (TTN) XP_016860308.1:p.Pro16085Arg
XM_017004820.1:c.43652C>G (TTN) XP_016860309.1:p.Pro14551Arg
XM_017004821.1:c.43649C>G (TTN) XP_016860310.1:p.Pro14550Arg
XM_017004822.1:c.40691C>G (TTN) XP_016860311.1:p.Pro13564Arg
XM_017004823.1:c.22307C>G (TTN) XP_016860312.1:p.Pro7436Arg
XM_024453094.1:c.43802C>G (TTN) XP_024308862.1:p.Pro14601Arg
XM_024453095.1:c.43799C>G (TTN) XP_024308863.1:p.Pro14600Arg
XM_024453096.1:c.43232C>G (TTN) XP_024308864.1:p.Pro14411Arg
XM_024453097.1:c.40574C>G (TTN) XP_024308865.1:p.Pro13525Arg
XM_024453098.1:c.40493C>G (TTN) XP_024308866.1:p.Pro13498Arg
XM_024453099.1:c.22256C>G (TTN) XP_024308867.1:p.Pro7419Arg
XM_024453100.1:c.12110C>G (TTN) XP_024308868.1:p.Pro4037Arg