Canonical Allele Identifier: CA349426897

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178537072A>C , CM000664.2:g.178537072A>C GRCh38
NC_000002.11:g.179401799A>C , CM000664.1:g.179401799A>C GRCh37
NC_000002.10:g.179110045A>C NCBI36
NG_011618.3:g.298731T>G , LRG_391:g.298731T>G
NG_051363.1:g.19246A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.92333T>G (TTN) ENSP00000343764.6:p.Ile30778Ser
ENST00000342175.11:c.73418T>G (TTN) ENSP00000340554.6:p.Ile24473Ser
ENST00000359218.10:c.73217T>G (TTN) ENSP00000352154.5:p.Ile24406Ser
ENST00000342175.10:c.73418T>G (TTN) ENSP00000340554.6:p.Ile24473Ser
ENST00000342992.10:c.92333T>G (TTN) ENSP00000343764.6:p.Ile30778Ser
ENST00000359218.9:c.73217T>G (TTN) ENSP00000352154.5:p.Ile24406Ser
ENST00000460472.6:c.72842T>G (TTN) ENSP00000434586.1:p.Ile24281Ser
ENST00000589042.5:c.100037T>G (TTN) MANE Select ENSP00000467141.1:p.Ile33346Ser
ENST00000591111.5:c.95114T>G (TTN) ENSP00000465570.1:p.Ile31705Ser
ENST00000615779.4:c.95114T>G (TTN) ENSP00000483597.1:p.Ile31705Ser
NM_001256850.1:c.95114T>G (TTN) NP_001243779.1:p.Ile31705Ser
NM_001267550.2:c.100037T>G (TTN) MANE Select NP_001254479.2:p.Ile33346Ser
NM_003319.4:c.72842T>G (TTN) NP_003310.4:p.Ile24281Ser
NM_133378.4:c.92333T>G (TTN) NP_596869.4:p.Ile30778Ser
NM_133432.3:c.73217T>G (TTN) NP_597676.3:p.Ile24406Ser
NM_133437.4:c.73418T>G (TTN) NP_597681.4:p.Ile24473Ser
NR_038271.1:n.446+13436A>C (TTN-AS1)
NR_038272.1:n.317-289A>C (TTN-AS1)
XM_011511729.1:c.99134T>G (TTN) XP_011510031.1:p.Ile33045Ser
XM_011511730.1:c.73028T>G (TTN) XP_011510032.1:p.Ile24343Ser
XM_011511731.1:c.72887T>G (TTN) XP_011510033.1:p.Ile24296Ser
XM_017004819.1:c.98930T>G (TTN) XP_016860308.1:p.Ile32977Ser
XM_017004820.1:c.94328T>G (TTN) XP_016860309.1:p.Ile31443Ser
XM_017004821.1:c.94325T>G (TTN) XP_016860310.1:p.Ile31442Ser
XM_017004822.1:c.91367T>G (TTN) XP_016860311.1:p.Ile30456Ser
XM_017004823.1:c.72983T>G (TTN) XP_016860312.1:p.Ile24328Ser
XM_024453094.1:c.94478T>G (TTN) XP_024308862.1:p.Ile31493Ser
XM_024453095.1:c.94475T>G (TTN) XP_024308863.1:p.Ile31492Ser
XM_024453096.1:c.93908T>G (TTN) XP_024308864.1:p.Ile31303Ser
XM_024453097.1:c.91250T>G (TTN) XP_024308865.1:p.Ile30417Ser
XM_024453098.1:c.91169T>G (TTN) XP_024308866.1:p.Ile30390Ser
XM_024453099.1:c.72932T>G (TTN) XP_024308867.1:p.Ile24311Ser
XM_024453100.1:c.62786T>G (TTN) XP_024308868.1:p.Ile20929Ser