Canonical Allele Identifier: CA349411688

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532159T>A , CM000664.2:g.178532159T>A GRCh38
NC_000002.11:g.179396886T>A , CM000664.1:g.179396886T>A GRCh37
NC_000002.10:g.179105132T>A NCBI36
NG_011618.3:g.303644A>T , LRG_391:g.303644A>T
NG_051363.1:g.14333T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96752A>T (TTN) ENSP00000343764.6:p.Tyr32251Phe
ENST00000342175.11:c.77837A>T (TTN) ENSP00000340554.6:p.Tyr25946Phe
ENST00000359218.10:c.77636A>T (TTN) ENSP00000352154.5:p.Tyr25879Phe
ENST00000342175.10:c.77837A>T (TTN) ENSP00000340554.6:p.Tyr25946Phe
ENST00000342992.10:c.96752A>T (TTN) ENSP00000343764.6:p.Tyr32251Phe
ENST00000359218.9:c.77636A>T (TTN) ENSP00000352154.5:p.Tyr25879Phe
ENST00000460472.6:c.77261A>T (TTN) ENSP00000434586.1:p.Tyr25754Phe
ENST00000589042.5:c.104456A>T (TTN) MANE Select ENSP00000467141.1:p.Tyr34819Phe
ENST00000591111.5:c.99533A>T (TTN) ENSP00000465570.1:p.Tyr33178Phe
ENST00000615779.4:c.99533A>T (TTN) ENSP00000483597.1:p.Tyr33178Phe
NM_001256850.1:c.99533A>T (TTN) NP_001243779.1:p.Tyr33178Phe
NM_001267550.2:c.104456A>T (TTN) MANE Select NP_001254479.2:p.Tyr34819Phe
NM_003319.4:c.77261A>T (TTN) NP_003310.4:p.Tyr25754Phe
NM_133378.4:c.96752A>T (TTN) NP_596869.4:p.Tyr32251Phe
NM_133432.3:c.77636A>T (TTN) NP_597676.3:p.Tyr25879Phe
NM_133437.4:c.77837A>T (TTN) NP_597681.4:p.Tyr25946Phe
NR_038271.1:n.446+8523T>A (TTN-AS1)
NR_038272.1:n.220-3573T>A (TTN-AS1)
XM_011511729.1:c.103553A>T (TTN) XP_011510031.1:p.Tyr34518Phe
XM_011511730.1:c.77447A>T (TTN) XP_011510032.1:p.Tyr25816Phe
XM_011511731.1:c.77306A>T (TTN) XP_011510033.1:p.Tyr25769Phe
XM_017004819.1:c.103349A>T (TTN) XP_016860308.1:p.Tyr34450Phe
XM_017004820.1:c.98747A>T (TTN) XP_016860309.1:p.Tyr32916Phe
XM_017004821.1:c.98744A>T (TTN) XP_016860310.1:p.Tyr32915Phe
XM_017004822.1:c.95786A>T (TTN) XP_016860311.1:p.Tyr31929Phe
XM_017004823.1:c.77402A>T (TTN) XP_016860312.1:p.Tyr25801Phe
XM_024453094.1:c.98897A>T (TTN) XP_024308862.1:p.Tyr32966Phe
XM_024453095.1:c.98894A>T (TTN) XP_024308863.1:p.Tyr32965Phe
XM_024453096.1:c.98327A>T (TTN) XP_024308864.1:p.Tyr32776Phe
XM_024453097.1:c.95669A>T (TTN) XP_024308865.1:p.Tyr31890Phe
XM_024453098.1:c.95588A>T (TTN) XP_024308866.1:p.Tyr31863Phe
XM_024453099.1:c.77351A>T (TTN) XP_024308867.1:p.Tyr25784Phe
XM_024453100.1:c.67205A>T (TTN) XP_024308868.1:p.Tyr22402Phe