Canonical Allele Identifier: CA349406098

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530293A>C , CM000664.2:g.178530293A>C GRCh38
NC_000002.11:g.179395020A>C , CM000664.1:g.179395020A>C GRCh37
NC_000002.10:g.179103266A>C NCBI36
NG_011618.3:g.305510T>G , LRG_391:g.305510T>G
NG_051363.1:g.12467A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98618T>G (TTN) ENSP00000343764.6:p.Val32873Gly
ENST00000342175.11:c.79703T>G (TTN) ENSP00000340554.6:p.Val26568Gly
ENST00000359218.10:c.79502T>G (TTN) ENSP00000352154.5:p.Val26501Gly
ENST00000342175.10:c.79703T>G (TTN) ENSP00000340554.6:p.Val26568Gly
ENST00000342992.10:c.98618T>G (TTN) ENSP00000343764.6:p.Val32873Gly
ENST00000359218.9:c.79502T>G (TTN) ENSP00000352154.5:p.Val26501Gly
ENST00000460472.6:c.79127T>G (TTN) ENSP00000434586.1:p.Val26376Gly
ENST00000589042.5:c.106322T>G (TTN) MANE Select ENSP00000467141.1:p.Val35441Gly
ENST00000591111.5:c.101399T>G (TTN) ENSP00000465570.1:p.Val33800Gly
ENST00000615779.4:c.101399T>G (TTN) ENSP00000483597.1:p.Val33800Gly
NM_001256850.1:c.101399T>G (TTN) NP_001243779.1:p.Val33800Gly
NM_001267550.2:c.106322T>G (TTN) MANE Select NP_001254479.2:p.Val35441Gly
NM_003319.4:c.79127T>G (TTN) NP_003310.4:p.Val26376Gly
NM_133378.4:c.98618T>G (TTN) NP_596869.4:p.Val32873Gly
NM_133432.3:c.79502T>G (TTN) NP_597676.3:p.Val26501Gly
NM_133437.4:c.79703T>G (TTN) NP_597681.4:p.Val26568Gly
NR_038271.1:n.446+6657A>C (TTN-AS1)
NR_038272.1:n.220-5439A>C (TTN-AS1)
XM_011511729.1:c.105419T>G (TTN) XP_011510031.1:p.Val35140Gly
XM_011511730.1:c.79313T>G (TTN) XP_011510032.1:p.Val26438Gly
XM_011511731.1:c.79172T>G (TTN) XP_011510033.1:p.Val26391Gly
XM_017004819.1:c.105215T>G (TTN) XP_016860308.1:p.Val35072Gly
XM_017004820.1:c.100613T>G (TTN) XP_016860309.1:p.Val33538Gly
XM_017004821.1:c.100610T>G (TTN) XP_016860310.1:p.Val33537Gly
XM_017004822.1:c.97652T>G (TTN) XP_016860311.1:p.Val32551Gly
XM_017004823.1:c.79268T>G (TTN) XP_016860312.1:p.Val26423Gly
XM_024453094.1:c.100763T>G (TTN) XP_024308862.1:p.Val33588Gly
XM_024453095.1:c.100760T>G (TTN) XP_024308863.1:p.Val33587Gly
XM_024453096.1:c.100193T>G (TTN) XP_024308864.1:p.Val33398Gly
XM_024453097.1:c.97535T>G (TTN) XP_024308865.1:p.Val32512Gly
XM_024453098.1:c.97454T>G (TTN) XP_024308866.1:p.Val32485Gly
XM_024453099.1:c.79217T>G (TTN) XP_024308867.1:p.Val26406Gly
XM_024453100.1:c.69071T>G (TTN) XP_024308868.1:p.Val23024Gly