Canonical Allele Identifier: CA349608949

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178615358G>C , CM000664.2:g.178615358G>C GRCh38
NC_000002.11:g.179480085G>C , CM000664.1:g.179480085G>C GRCh37
NC_000002.10:g.179188330G>C NCBI36
NG_011618.3:g.220445C>G , LRG_391:g.220445C>G
NG_051363.1:g.97532G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.40883C>G (TTN) ENSP00000343764.6:p.Pro13628Arg
ENST00000342175.11:c.21968C>G (TTN) ENSP00000340554.6:p.Pro7323Arg
ENST00000359218.10:c.21767C>G (TTN) ENSP00000352154.5:p.Pro7256Arg
ENST00000342175.10:c.21968C>G (TTN) ENSP00000340554.6:p.Pro7323Arg
ENST00000342992.10:c.40883C>G (TTN) ENSP00000343764.6:p.Pro13628Arg
ENST00000359218.9:c.21767C>G (TTN) ENSP00000352154.5:p.Pro7256Arg
ENST00000460472.6:c.21392C>G (TTN) ENSP00000434586.1:p.Pro7131Arg
ENST00000589042.5:c.48587C>G (TTN) MANE Select ENSP00000467141.1:p.Pro16196Arg
ENST00000591111.5:c.43664C>G (TTN) ENSP00000465570.1:p.Pro14555Arg
ENST00000615779.4:c.43664C>G (TTN) ENSP00000483597.1:p.Pro14555Arg
NM_001256850.1:c.43664C>G (TTN) NP_001243779.1:p.Pro14555Arg
NM_001267550.2:c.48587C>G (TTN) MANE Select NP_001254479.2:p.Pro16196Arg
NM_003319.4:c.21392C>G (TTN) NP_003310.4:p.Pro7131Arg
NM_133378.4:c.40883C>G (TTN) NP_596869.4:p.Pro13628Arg
NM_133432.3:c.21767C>G (TTN) NP_597676.3:p.Pro7256Arg
NM_133437.4:c.21968C>G (TTN) NP_597681.4:p.Pro7323Arg
NR_038271.1:n.1588G>C (TTN-AS1)
XM_011511729.1:c.47684C>G (TTN) XP_011510031.1:p.Pro15895Arg
XM_011511730.1:c.21578C>G (TTN) XP_011510032.1:p.Pro7193Arg
XM_011511731.1:c.21437C>G (TTN) XP_011510033.1:p.Pro7146Arg
XM_017004819.1:c.47480C>G (TTN) XP_016860308.1:p.Pro15827Arg
XM_017004820.1:c.42878C>G (TTN) XP_016860309.1:p.Pro14293Arg
XM_017004821.1:c.42875C>G (TTN) XP_016860310.1:p.Pro14292Arg
XM_017004822.1:c.39917C>G (TTN) XP_016860311.1:p.Pro13306Arg
XM_017004823.1:c.21533C>G (TTN) XP_016860312.1:p.Pro7178Arg
XM_024453094.1:c.43028C>G (TTN) XP_024308862.1:p.Pro14343Arg
XM_024453095.1:c.43025C>G (TTN) XP_024308863.1:p.Pro14342Arg
XM_024453096.1:c.42458C>G (TTN) XP_024308864.1:p.Pro14153Arg
XM_024453097.1:c.39800C>G (TTN) XP_024308865.1:p.Pro13267Arg
XM_024453098.1:c.39719C>G (TTN) XP_024308866.1:p.Pro13240Arg
XM_024453099.1:c.21482C>G (TTN) XP_024308867.1:p.Pro7161Arg
XM_024453100.1:c.11336C>G (TTN) XP_024308868.1:p.Pro3779Arg