Canonical Allele Identifier: CA349434892

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178540073A>G , CM000664.2:g.178540073A>G GRCh38
NC_000002.11:g.179404800A>G , CM000664.1:g.179404800A>G GRCh37
NC_000002.10:g.179113046A>G NCBI36
NG_011618.3:g.295730T>C , LRG_391:g.295730T>C
NG_051363.1:g.22247A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.90389T>C (TTN) ENSP00000343764.6:p.Met30130Thr
ENST00000342175.11:c.71474T>C (TTN) ENSP00000340554.6:p.Met23825Thr
ENST00000359218.10:c.71273T>C (TTN) ENSP00000352154.5:p.Met23758Thr
ENST00000342175.10:c.71474T>C (TTN) ENSP00000340554.6:p.Met23825Thr
ENST00000342992.10:c.90389T>C (TTN) ENSP00000343764.6:p.Met30130Thr
ENST00000359218.9:c.71273T>C (TTN) ENSP00000352154.5:p.Met23758Thr
ENST00000460472.6:c.70898T>C (TTN) ENSP00000434586.1:p.Met23633Thr
ENST00000589042.5:c.98093T>C (TTN) MANE Select ENSP00000467141.1:p.Met32698Thr
ENST00000591111.5:c.93170T>C (TTN) ENSP00000465570.1:p.Met31057Thr
ENST00000615779.4:c.93170T>C (TTN) ENSP00000483597.1:p.Met31057Thr
NM_001256850.1:c.93170T>C (TTN) NP_001243779.1:p.Met31057Thr
NM_001267550.2:c.98093T>C (TTN) MANE Select NP_001254479.2:p.Met32698Thr
NM_003319.4:c.70898T>C (TTN) NP_003310.4:p.Met23633Thr
NM_133378.4:c.90389T>C (TTN) NP_596869.4:p.Met30130Thr
NM_133432.3:c.71273T>C (TTN) NP_597676.3:p.Met23758Thr
NM_133437.4:c.71474T>C (TTN) NP_597681.4:p.Met23825Thr
NR_038271.1:n.446+16437A>G (TTN-AS1)
NR_038272.1:n.1841-34A>G (TTN-AS1)
XM_011511729.1:c.97190T>C (TTN) XP_011510031.1:p.Met32397Thr
XM_011511730.1:c.71084T>C (TTN) XP_011510032.1:p.Met23695Thr
XM_011511731.1:c.70943T>C (TTN) XP_011510033.1:p.Met23648Thr
XM_017004819.1:c.96986T>C (TTN) XP_016860308.1:p.Met32329Thr
XM_017004820.1:c.92384T>C (TTN) XP_016860309.1:p.Met30795Thr
XM_017004821.1:c.92381T>C (TTN) XP_016860310.1:p.Met30794Thr
XM_017004822.1:c.89423T>C (TTN) XP_016860311.1:p.Met29808Thr
XM_017004823.1:c.71039T>C (TTN) XP_016860312.1:p.Met23680Thr
XM_024453094.1:c.92534T>C (TTN) XP_024308862.1:p.Met30845Thr
XM_024453095.1:c.92531T>C (TTN) XP_024308863.1:p.Met30844Thr
XM_024453096.1:c.91964T>C (TTN) XP_024308864.1:p.Met30655Thr
XM_024453097.1:c.89306T>C (TTN) XP_024308865.1:p.Met29769Thr
XM_024453098.1:c.89225T>C (TTN) XP_024308866.1:p.Met29742Thr
XM_024453099.1:c.70988T>C (TTN) XP_024308867.1:p.Met23663Thr
XM_024453100.1:c.60842T>C (TTN) XP_024308868.1:p.Met20281Thr