Canonical Allele Identifier: CA349398137

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178527013T>G , CM000664.2:g.178527013T>G GRCh38
NC_000002.11:g.179391740T>G , CM000664.1:g.179391740T>G GRCh37
NC_000002.10:g.179099986T>G NCBI36
NG_011618.3:g.308790A>C , LRG_391:g.308790A>C
NG_051363.1:g.9187T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.100271A>C (TTN) ENSP00000343764.6:p.Ter33424Ser
ENST00000342175.11:c.81356A>C (TTN) ENSP00000340554.6:p.Ter27119Ser
ENST00000359218.10:c.81155A>C (TTN) ENSP00000352154.5:p.Ter27052Ser
ENST00000342175.10:c.81356A>C (TTN) ENSP00000340554.6:p.Ter27119Ser
ENST00000342992.10:c.100271A>C (TTN) ENSP00000343764.6:p.Ter33424Ser
ENST00000359218.9:c.81155A>C (TTN) ENSP00000352154.5:p.Ter27052Ser
ENST00000460472.6:c.80780A>C (TTN) ENSP00000434586.1:p.Ter26927Ser
ENST00000589042.5:c.107975A>C (TTN) MANE Select ENSP00000467141.1:p.Ter35992Ser
ENST00000591111.5:c.103052A>C (TTN) ENSP00000465570.1:p.Ter34351Ser
ENST00000615779.4:c.103052A>C (TTN) ENSP00000483597.1:p.Ter34351Ser
NM_001256850.1:c.103052A>C (TTN) NP_001243779.1:p.Ter34351Ser
NM_001267550.2:c.107975A>C (TTN) MANE Select NP_001254479.2:p.Ter35992Ser
NM_003319.4:c.80780A>C (TTN) NP_003310.4:p.Ter26927Ser
NM_133378.4:c.100271A>C (TTN) NP_596869.4:p.Ter33424Ser
NM_133432.3:c.81155A>C (TTN) NP_597676.3:p.Ter27052Ser
NM_133437.4:c.81356A>C (TTN) NP_597681.4:p.Ter27119Ser
NR_038271.1:n.446+3377T>G (TTN-AS1)
NR_038272.1:n.219+3377T>G (TTN-AS1)
XM_011511729.1:c.107072A>C (TTN) XP_011510031.1:p.Ter35691Ser
XM_011511730.1:c.80966A>C (TTN) XP_011510032.1:p.Ter26989Ser
XM_011511731.1:c.80825A>C (TTN) XP_011510033.1:p.Ter26942Ser
XM_017004819.1:c.106868A>C (TTN) XP_016860308.1:p.Ter35623Ser
XM_017004820.1:c.102266A>C (TTN) XP_016860309.1:p.Ter34089Ser
XM_017004821.1:c.102263A>C (TTN) XP_016860310.1:p.Ter34088Ser
XM_017004822.1:c.99305A>C (TTN) XP_016860311.1:p.Ter33102Ser
XM_017004823.1:c.80921A>C (TTN) XP_016860312.1:p.Ter26974Ser
XM_024453094.1:c.102416A>C (TTN) XP_024308862.1:p.Ter34139Ser
XM_024453095.1:c.102413A>C (TTN) XP_024308863.1:p.Ter34138Ser
XM_024453096.1:c.101846A>C (TTN) XP_024308864.1:p.Ter33949Ser
XM_024453097.1:c.99188A>C (TTN) XP_024308865.1:p.Ter33063Ser
XM_024453098.1:c.99107A>C (TTN) XP_024308866.1:p.Ter33036Ser
XM_024453099.1:c.80870A>C (TTN) XP_024308867.1:p.Ter26957Ser
XM_024453100.1:c.70724A>C (TTN) XP_024308868.1:p.Ter23575Ser