Canonical Allele Identifier: CA349511724

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178552566T>C , CM000664.2:g.178552566T>C GRCh38
NC_000002.11:g.179417293T>C , CM000664.1:g.179417293T>C GRCh37
NC_000002.10:g.179125539T>C NCBI36
NG_011618.3:g.283237A>G , LRG_391:g.283237A>G
NG_051363.1:g.34740T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.82630A>G (TTN) ENSP00000343764.6:p.Ser27544Gly
ENST00000342175.11:c.63715A>G (TTN) ENSP00000340554.6:p.Ser21239Gly
ENST00000359218.10:c.63514A>G (TTN) ENSP00000352154.5:p.Ser21172Gly
ENST00000342175.10:c.63715A>G (TTN) ENSP00000340554.6:p.Ser21239Gly
ENST00000342992.10:c.82630A>G (TTN) ENSP00000343764.6:p.Ser27544Gly
ENST00000359218.9:c.63514A>G (TTN) ENSP00000352154.5:p.Ser21172Gly
ENST00000460472.6:c.63139A>G (TTN) ENSP00000434586.1:p.Ser21047Gly
ENST00000589042.5:c.90334A>G (TTN) MANE Select ENSP00000467141.1:p.Ser30112Gly
ENST00000591111.5:c.85411A>G (TTN) ENSP00000465570.1:p.Ser28471Gly
ENST00000615779.4:c.85411A>G (TTN) ENSP00000483597.1:p.Ser28471Gly
NM_001256850.1:c.85411A>G (TTN) NP_001243779.1:p.Ser28471Gly
NM_001267550.2:c.90334A>G (TTN) MANE Select NP_001254479.2:p.Ser30112Gly
NM_003319.4:c.63139A>G (TTN) NP_003310.4:p.Ser21047Gly
NM_133378.4:c.82630A>G (TTN) NP_596869.4:p.Ser27544Gly
NM_133432.3:c.63514A>G (TTN) NP_597676.3:p.Ser21172Gly
NM_133437.4:c.63715A>G (TTN) NP_597681.4:p.Ser21239Gly
NR_038271.1:n.447-18734T>C (TTN-AS1)
NR_038272.1:n.2043+10205T>C (TTN-AS1)
XM_011511729.1:c.89431A>G (TTN) XP_011510031.1:p.Ser29811Gly
XM_011511730.1:c.63325A>G (TTN) XP_011510032.1:p.Ser21109Gly
XM_011511731.1:c.63184A>G (TTN) XP_011510033.1:p.Ser21062Gly
XM_017004819.1:c.89227A>G (TTN) XP_016860308.1:p.Ser29743Gly
XM_017004820.1:c.84625A>G (TTN) XP_016860309.1:p.Ser28209Gly
XM_017004821.1:c.84622A>G (TTN) XP_016860310.1:p.Ser28208Gly
XM_017004822.1:c.81664A>G (TTN) XP_016860311.1:p.Ser27222Gly
XM_017004823.1:c.63280A>G (TTN) XP_016860312.1:p.Ser21094Gly
XM_024453094.1:c.84775A>G (TTN) XP_024308862.1:p.Ser28259Gly
XM_024453095.1:c.84772A>G (TTN) XP_024308863.1:p.Ser28258Gly
XM_024453096.1:c.84205A>G (TTN) XP_024308864.1:p.Ser28069Gly
XM_024453097.1:c.81547A>G (TTN) XP_024308865.1:p.Ser27183Gly
XM_024453098.1:c.81466A>G (TTN) XP_024308866.1:p.Ser27156Gly
XM_024453099.1:c.63229A>G (TTN) XP_024308867.1:p.Ser21077Gly
XM_024453100.1:c.53083A>G (TTN) XP_024308868.1:p.Ser17695Gly