Canonical Allele Identifier: CA349411713

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532168T>G , CM000664.2:g.178532168T>G GRCh38
NC_000002.11:g.179396895T>G , CM000664.1:g.179396895T>G GRCh37
NC_000002.10:g.179105141T>G NCBI36
NG_011618.3:g.303635A>C , LRG_391:g.303635A>C
NG_051363.1:g.14342T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96743A>C (TTN) ENSP00000343764.6:p.Glu32248Ala
ENST00000342175.11:c.77828A>C (TTN) ENSP00000340554.6:p.Glu25943Ala
ENST00000359218.10:c.77627A>C (TTN) ENSP00000352154.5:p.Glu25876Ala
ENST00000342175.10:c.77828A>C (TTN) ENSP00000340554.6:p.Glu25943Ala
ENST00000342992.10:c.96743A>C (TTN) ENSP00000343764.6:p.Glu32248Ala
ENST00000359218.9:c.77627A>C (TTN) ENSP00000352154.5:p.Glu25876Ala
ENST00000460472.6:c.77252A>C (TTN) ENSP00000434586.1:p.Glu25751Ala
ENST00000589042.5:c.104447A>C (TTN) MANE Select ENSP00000467141.1:p.Glu34816Ala
ENST00000591111.5:c.99524A>C (TTN) ENSP00000465570.1:p.Glu33175Ala
ENST00000615779.4:c.99524A>C (TTN) ENSP00000483597.1:p.Glu33175Ala
NM_001256850.1:c.99524A>C (TTN) NP_001243779.1:p.Glu33175Ala
NM_001267550.2:c.104447A>C (TTN) MANE Select NP_001254479.2:p.Glu34816Ala
NM_003319.4:c.77252A>C (TTN) NP_003310.4:p.Glu25751Ala
NM_133378.4:c.96743A>C (TTN) NP_596869.4:p.Glu32248Ala
NM_133432.3:c.77627A>C (TTN) NP_597676.3:p.Glu25876Ala
NM_133437.4:c.77828A>C (TTN) NP_597681.4:p.Glu25943Ala
NR_038271.1:n.446+8532T>G (TTN-AS1)
NR_038272.1:n.220-3564T>G (TTN-AS1)
XM_011511729.1:c.103544A>C (TTN) XP_011510031.1:p.Glu34515Ala
XM_011511730.1:c.77438A>C (TTN) XP_011510032.1:p.Glu25813Ala
XM_011511731.1:c.77297A>C (TTN) XP_011510033.1:p.Glu25766Ala
XM_017004819.1:c.103340A>C (TTN) XP_016860308.1:p.Glu34447Ala
XM_017004820.1:c.98738A>C (TTN) XP_016860309.1:p.Glu32913Ala
XM_017004821.1:c.98735A>C (TTN) XP_016860310.1:p.Glu32912Ala
XM_017004822.1:c.95777A>C (TTN) XP_016860311.1:p.Glu31926Ala
XM_017004823.1:c.77393A>C (TTN) XP_016860312.1:p.Glu25798Ala
XM_024453094.1:c.98888A>C (TTN) XP_024308862.1:p.Glu32963Ala
XM_024453095.1:c.98885A>C (TTN) XP_024308863.1:p.Glu32962Ala
XM_024453096.1:c.98318A>C (TTN) XP_024308864.1:p.Glu32773Ala
XM_024453097.1:c.95660A>C (TTN) XP_024308865.1:p.Glu31887Ala
XM_024453098.1:c.95579A>C (TTN) XP_024308866.1:p.Glu31860Ala
XM_024453099.1:c.77342A>C (TTN) XP_024308867.1:p.Glu25781Ala
XM_024453100.1:c.67196A>C (TTN) XP_024308868.1:p.Glu22399Ala