Canonical Allele Identifier: CA349411698

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532162T>G , CM000664.2:g.178532162T>G GRCh38
NC_000002.11:g.179396889T>G , CM000664.1:g.179396889T>G GRCh37
NC_000002.10:g.179105135T>G NCBI36
NG_011618.3:g.303641A>C , LRG_391:g.303641A>C
NG_051363.1:g.14336T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96749A>C (TTN) ENSP00000343764.6:p.Glu32250Ala
ENST00000342175.11:c.77834A>C (TTN) ENSP00000340554.6:p.Glu25945Ala
ENST00000359218.10:c.77633A>C (TTN) ENSP00000352154.5:p.Glu25878Ala
ENST00000342175.10:c.77834A>C (TTN) ENSP00000340554.6:p.Glu25945Ala
ENST00000342992.10:c.96749A>C (TTN) ENSP00000343764.6:p.Glu32250Ala
ENST00000359218.9:c.77633A>C (TTN) ENSP00000352154.5:p.Glu25878Ala
ENST00000460472.6:c.77258A>C (TTN) ENSP00000434586.1:p.Glu25753Ala
ENST00000589042.5:c.104453A>C (TTN) MANE Select ENSP00000467141.1:p.Glu34818Ala
ENST00000591111.5:c.99530A>C (TTN) ENSP00000465570.1:p.Glu33177Ala
ENST00000615779.4:c.99530A>C (TTN) ENSP00000483597.1:p.Glu33177Ala
NM_001256850.1:c.99530A>C (TTN) NP_001243779.1:p.Glu33177Ala
NM_001267550.2:c.104453A>C (TTN) MANE Select NP_001254479.2:p.Glu34818Ala
NM_003319.4:c.77258A>C (TTN) NP_003310.4:p.Glu25753Ala
NM_133378.4:c.96749A>C (TTN) NP_596869.4:p.Glu32250Ala
NM_133432.3:c.77633A>C (TTN) NP_597676.3:p.Glu25878Ala
NM_133437.4:c.77834A>C (TTN) NP_597681.4:p.Glu25945Ala
NR_038271.1:n.446+8526T>G (TTN-AS1)
NR_038272.1:n.220-3570T>G (TTN-AS1)
XM_011511729.1:c.103550A>C (TTN) XP_011510031.1:p.Glu34517Ala
XM_011511730.1:c.77444A>C (TTN) XP_011510032.1:p.Glu25815Ala
XM_011511731.1:c.77303A>C (TTN) XP_011510033.1:p.Glu25768Ala
XM_017004819.1:c.103346A>C (TTN) XP_016860308.1:p.Glu34449Ala
XM_017004820.1:c.98744A>C (TTN) XP_016860309.1:p.Glu32915Ala
XM_017004821.1:c.98741A>C (TTN) XP_016860310.1:p.Glu32914Ala
XM_017004822.1:c.95783A>C (TTN) XP_016860311.1:p.Glu31928Ala
XM_017004823.1:c.77399A>C (TTN) XP_016860312.1:p.Glu25800Ala
XM_024453094.1:c.98894A>C (TTN) XP_024308862.1:p.Glu32965Ala
XM_024453095.1:c.98891A>C (TTN) XP_024308863.1:p.Glu32964Ala
XM_024453096.1:c.98324A>C (TTN) XP_024308864.1:p.Glu32775Ala
XM_024453097.1:c.95666A>C (TTN) XP_024308865.1:p.Glu31889Ala
XM_024453098.1:c.95585A>C (TTN) XP_024308866.1:p.Glu31862Ala
XM_024453099.1:c.77348A>C (TTN) XP_024308867.1:p.Glu25783Ala
XM_024453100.1:c.67202A>C (TTN) XP_024308868.1:p.Glu22401Ala