Canonical Allele Identifier: CA349411320

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532012T>G , CM000664.2:g.178532012T>G GRCh38
NC_000002.11:g.179396739T>G , CM000664.1:g.179396739T>G GRCh37
NC_000002.10:g.179104985T>G NCBI36
NG_011618.3:g.303791A>C , LRG_391:g.303791A>C
NG_051363.1:g.14186T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96899A>C (TTN) ENSP00000343764.6:p.Tyr32300Ser
ENST00000342175.11:c.77984A>C (TTN) ENSP00000340554.6:p.Tyr25995Ser
ENST00000359218.10:c.77783A>C (TTN) ENSP00000352154.5:p.Tyr25928Ser
ENST00000342175.10:c.77984A>C (TTN) ENSP00000340554.6:p.Tyr25995Ser
ENST00000342992.10:c.96899A>C (TTN) ENSP00000343764.6:p.Tyr32300Ser
ENST00000359218.9:c.77783A>C (TTN) ENSP00000352154.5:p.Tyr25928Ser
ENST00000460472.6:c.77408A>C (TTN) ENSP00000434586.1:p.Tyr25803Ser
ENST00000589042.5:c.104603A>C (TTN) MANE Select ENSP00000467141.1:p.Tyr34868Ser
ENST00000591111.5:c.99680A>C (TTN) ENSP00000465570.1:p.Tyr33227Ser
ENST00000615779.4:c.99680A>C (TTN) ENSP00000483597.1:p.Tyr33227Ser
NM_001256850.1:c.99680A>C (TTN) NP_001243779.1:p.Tyr33227Ser
NM_001267550.2:c.104603A>C (TTN) MANE Select NP_001254479.2:p.Tyr34868Ser
NM_003319.4:c.77408A>C (TTN) NP_003310.4:p.Tyr25803Ser
NM_133378.4:c.96899A>C (TTN) NP_596869.4:p.Tyr32300Ser
NM_133432.3:c.77783A>C (TTN) NP_597676.3:p.Tyr25928Ser
NM_133437.4:c.77984A>C (TTN) NP_597681.4:p.Tyr25995Ser
NR_038271.1:n.446+8376T>G (TTN-AS1)
NR_038272.1:n.220-3720T>G (TTN-AS1)
XM_011511729.1:c.103700A>C (TTN) XP_011510031.1:p.Tyr34567Ser
XM_011511730.1:c.77594A>C (TTN) XP_011510032.1:p.Tyr25865Ser
XM_011511731.1:c.77453A>C (TTN) XP_011510033.1:p.Tyr25818Ser
XM_017004819.1:c.103496A>C (TTN) XP_016860308.1:p.Tyr34499Ser
XM_017004820.1:c.98894A>C (TTN) XP_016860309.1:p.Tyr32965Ser
XM_017004821.1:c.98891A>C (TTN) XP_016860310.1:p.Tyr32964Ser
XM_017004822.1:c.95933A>C (TTN) XP_016860311.1:p.Tyr31978Ser
XM_017004823.1:c.77549A>C (TTN) XP_016860312.1:p.Tyr25850Ser
XM_024453094.1:c.99044A>C (TTN) XP_024308862.1:p.Tyr33015Ser
XM_024453095.1:c.99041A>C (TTN) XP_024308863.1:p.Tyr33014Ser
XM_024453096.1:c.98474A>C (TTN) XP_024308864.1:p.Tyr32825Ser
XM_024453097.1:c.95816A>C (TTN) XP_024308865.1:p.Tyr31939Ser
XM_024453098.1:c.95735A>C (TTN) XP_024308866.1:p.Tyr31912Ser
XM_024453099.1:c.77498A>C (TTN) XP_024308867.1:p.Tyr25833Ser
XM_024453100.1:c.67352A>C (TTN) XP_024308868.1:p.Tyr22451Ser