Canonical Allele Identifier: CA349411673

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532153A>C , CM000664.2:g.178532153A>C GRCh38
NC_000002.11:g.179396880A>C , CM000664.1:g.179396880A>C GRCh37
NC_000002.10:g.179105126A>C NCBI36
NG_011618.3:g.303650T>G , LRG_391:g.303650T>G
NG_051363.1:g.14327A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96758T>G (TTN) ENSP00000343764.6:p.Ile32253Ser
ENST00000342175.11:c.77843T>G (TTN) ENSP00000340554.6:p.Ile25948Ser
ENST00000359218.10:c.77642T>G (TTN) ENSP00000352154.5:p.Ile25881Ser
ENST00000342175.10:c.77843T>G (TTN) ENSP00000340554.6:p.Ile25948Ser
ENST00000342992.10:c.96758T>G (TTN) ENSP00000343764.6:p.Ile32253Ser
ENST00000359218.9:c.77642T>G (TTN) ENSP00000352154.5:p.Ile25881Ser
ENST00000460472.6:c.77267T>G (TTN) ENSP00000434586.1:p.Ile25756Ser
ENST00000589042.5:c.104462T>G (TTN) MANE Select ENSP00000467141.1:p.Ile34821Ser
ENST00000591111.5:c.99539T>G (TTN) ENSP00000465570.1:p.Ile33180Ser
ENST00000615779.4:c.99539T>G (TTN) ENSP00000483597.1:p.Ile33180Ser
NM_001256850.1:c.99539T>G (TTN) NP_001243779.1:p.Ile33180Ser
NM_001267550.2:c.104462T>G (TTN) MANE Select NP_001254479.2:p.Ile34821Ser
NM_003319.4:c.77267T>G (TTN) NP_003310.4:p.Ile25756Ser
NM_133378.4:c.96758T>G (TTN) NP_596869.4:p.Ile32253Ser
NM_133432.3:c.77642T>G (TTN) NP_597676.3:p.Ile25881Ser
NM_133437.4:c.77843T>G (TTN) NP_597681.4:p.Ile25948Ser
NR_038271.1:n.446+8517A>C (TTN-AS1)
NR_038272.1:n.220-3579A>C (TTN-AS1)
XM_011511729.1:c.103559T>G (TTN) XP_011510031.1:p.Ile34520Ser
XM_011511730.1:c.77453T>G (TTN) XP_011510032.1:p.Ile25818Ser
XM_011511731.1:c.77312T>G (TTN) XP_011510033.1:p.Ile25771Ser
XM_017004819.1:c.103355T>G (TTN) XP_016860308.1:p.Ile34452Ser
XM_017004820.1:c.98753T>G (TTN) XP_016860309.1:p.Ile32918Ser
XM_017004821.1:c.98750T>G (TTN) XP_016860310.1:p.Ile32917Ser
XM_017004822.1:c.95792T>G (TTN) XP_016860311.1:p.Ile31931Ser
XM_017004823.1:c.77408T>G (TTN) XP_016860312.1:p.Ile25803Ser
XM_024453094.1:c.98903T>G (TTN) XP_024308862.1:p.Ile32968Ser
XM_024453095.1:c.98900T>G (TTN) XP_024308863.1:p.Ile32967Ser
XM_024453096.1:c.98333T>G (TTN) XP_024308864.1:p.Ile32778Ser
XM_024453097.1:c.95675T>G (TTN) XP_024308865.1:p.Ile31892Ser
XM_024453098.1:c.95594T>G (TTN) XP_024308866.1:p.Ile31865Ser
XM_024453099.1:c.77357T>G (TTN) XP_024308867.1:p.Ile25786Ser
XM_024453100.1:c.67211T>G (TTN) XP_024308868.1:p.Ile22404Ser