Canonical Allele Identifier: CA349398284

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527063A>C , CM000664.2:g.178527063A>C GRCh38
NC_000002.11:g.179391790A>C , CM000664.1:g.179391790A>C GRCh37
NC_000002.10:g.179100036A>C NCBI36
NG_011618.3:g.308740T>G , LRG_391:g.308740T>G
NG_051363.1:g.9237A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.100221T>G (TTN) ENSP00000343764.6:p.Asn33407Lys
ENST00000342175.11:c.81306T>G (TTN) ENSP00000340554.6:p.Asn27102Lys
ENST00000359218.10:c.81105T>G (TTN) ENSP00000352154.5:p.Asn27035Lys
ENST00000342175.10:c.81306T>G (TTN) ENSP00000340554.6:p.Asn27102Lys
ENST00000342992.10:c.100221T>G (TTN) ENSP00000343764.6:p.Asn33407Lys
ENST00000359218.9:c.81105T>G (TTN) ENSP00000352154.5:p.Asn27035Lys
ENST00000460472.6:c.80730T>G (TTN) ENSP00000434586.1:p.Asn26910Lys
ENST00000589042.5:c.107925T>G (TTN) MANE Select ENSP00000467141.1:p.Asn35975Lys
ENST00000591111.5:c.103002T>G (TTN) ENSP00000465570.1:p.Asn34334Lys
ENST00000615779.4:c.103002T>G (TTN) ENSP00000483597.1:p.Asn34334Lys
NM_001256850.1:c.103002T>G (TTN) NP_001243779.1:p.Asn34334Lys
NM_001267550.2:c.107925T>G (TTN) MANE Select NP_001254479.2:p.Asn35975Lys
NM_003319.4:c.80730T>G (TTN) NP_003310.4:p.Asn26910Lys
NM_133378.4:c.100221T>G (TTN) NP_596869.4:p.Asn33407Lys
NM_133432.3:c.81105T>G (TTN) NP_597676.3:p.Asn27035Lys
NM_133437.4:c.81306T>G (TTN) NP_597681.4:p.Asn27102Lys
NR_038271.1:n.446+3427A>C (TTN-AS1)
NR_038272.1:n.219+3427A>C (TTN-AS1)
XM_011511729.1:c.107022T>G (TTN) XP_011510031.1:p.Asn35674Lys
XM_011511730.1:c.80916T>G (TTN) XP_011510032.1:p.Asn26972Lys
XM_011511731.1:c.80775T>G (TTN) XP_011510033.1:p.Asn26925Lys
XM_017004819.1:c.106818T>G (TTN) XP_016860308.1:p.Asn35606Lys
XM_017004820.1:c.102216T>G (TTN) XP_016860309.1:p.Asn34072Lys
XM_017004821.1:c.102213T>G (TTN) XP_016860310.1:p.Asn34071Lys
XM_017004822.1:c.99255T>G (TTN) XP_016860311.1:p.Asn33085Lys
XM_017004823.1:c.80871T>G (TTN) XP_016860312.1:p.Asn26957Lys
XM_024453094.1:c.102366T>G (TTN) XP_024308862.1:p.Asn34122Lys
XM_024453095.1:c.102363T>G (TTN) XP_024308863.1:p.Asn34121Lys
XM_024453096.1:c.101796T>G (TTN) XP_024308864.1:p.Asn33932Lys
XM_024453097.1:c.99138T>G (TTN) XP_024308865.1:p.Asn33046Lys
XM_024453098.1:c.99057T>G (TTN) XP_024308866.1:p.Asn33019Lys
XM_024453099.1:c.80820T>G (TTN) XP_024308867.1:p.Asn26940Lys
XM_024453100.1:c.70674T>G (TTN) XP_024308868.1:p.Asn23558Lys