Canonical Allele Identifier: CA349618638

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178618196A>C , CM000664.2:g.178618196A>C GRCh38
NC_000002.11:g.179482923A>C , CM000664.1:g.179482923A>C GRCh37
NC_000002.10:g.179191168A>C NCBI36
NG_011618.3:g.217607T>G , LRG_391:g.217607T>G
NG_051363.1:g.100370A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.39558T>G (TTN) ENSP00000343764.6:p.Ser13186Arg
ENST00000342175.11:c.20643T>G (TTN) ENSP00000340554.6:p.Ser6881Arg
ENST00000359218.10:c.20442T>G (TTN) ENSP00000352154.5:p.Ser6814Arg
ENST00000342175.10:c.20643T>G (TTN) ENSP00000340554.6:p.Ser6881Arg
ENST00000342992.10:c.39558T>G (TTN) ENSP00000343764.6:p.Ser13186Arg
ENST00000359218.9:c.20442T>G (TTN) ENSP00000352154.5:p.Ser6814Arg
ENST00000460472.6:c.20067T>G (TTN) ENSP00000434586.1:p.Ser6689Arg
ENST00000589042.5:c.47262T>G (TTN) MANE Select ENSP00000467141.1:p.Ser15754Arg
ENST00000591111.5:c.42339T>G (TTN) ENSP00000465570.1:p.Ser14113Arg
ENST00000615779.4:c.42339T>G (TTN) ENSP00000483597.1:p.Ser14113Arg
NM_001256850.1:c.42339T>G (TTN) NP_001243779.1:p.Ser14113Arg
NM_001267550.2:c.47262T>G (TTN) MANE Select NP_001254479.2:p.Ser15754Arg
NM_003319.4:c.20067T>G (TTN) NP_003310.4:p.Ser6689Arg
NM_133378.4:c.39558T>G (TTN) NP_596869.4:p.Ser13186Arg
NM_133432.3:c.20442T>G (TTN) NP_597676.3:p.Ser6814Arg
NM_133437.4:c.20643T>G (TTN) NP_597681.4:p.Ser6881Arg
NR_038271.1:n.1605-1557A>C (TTN-AS1)
XM_011511729.1:c.46359T>G (TTN) XP_011510031.1:p.Ser15453Arg
XM_011511730.1:c.20253T>G (TTN) XP_011510032.1:p.Ser6751Arg
XM_011511731.1:c.20112T>G (TTN) XP_011510033.1:p.Ser6704Arg
XM_017004819.1:c.46155T>G (TTN) XP_016860308.1:p.Ser15385Arg
XM_017004820.1:c.41553T>G (TTN) XP_016860309.1:p.Ser13851Arg
XM_017004821.1:c.41550T>G (TTN) XP_016860310.1:p.Ser13850Arg
XM_017004822.1:c.38592T>G (TTN) XP_016860311.1:p.Ser12864Arg
XM_017004823.1:c.20208T>G (TTN) XP_016860312.1:p.Ser6736Arg
XM_024453094.1:c.41703T>G (TTN) XP_024308862.1:p.Ser13901Arg
XM_024453095.1:c.41700T>G (TTN) XP_024308863.1:p.Ser13900Arg
XM_024453096.1:c.41133T>G (TTN) XP_024308864.1:p.Ser13711Arg
XM_024453097.1:c.38475T>G (TTN) XP_024308865.1:p.Ser12825Arg
XM_024453098.1:c.38394T>G (TTN) XP_024308866.1:p.Ser12798Arg
XM_024453099.1:c.20157T>G (TTN) XP_024308867.1:p.Ser6719Arg
XM_024453100.1:c.10011T>G (TTN) XP_024308868.1:p.Ser3337Arg