Canonical Allele Identifier: CA349411852

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532230C>G , CM000664.2:g.178532230C>G GRCh38
NC_000002.11:g.179396957C>G , CM000664.1:g.179396957C>G GRCh37
NC_000002.10:g.179105203C>G NCBI36
NG_011618.3:g.303573G>C , LRG_391:g.303573G>C
NG_051363.1:g.14404C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96681G>C (TTN) ENSP00000343764.6:p.Lys32227Asn
ENST00000342175.11:c.77766G>C (TTN) ENSP00000340554.6:p.Lys25922Asn
ENST00000359218.10:c.77565G>C (TTN) ENSP00000352154.5:p.Lys25855Asn
ENST00000342175.10:c.77766G>C (TTN) ENSP00000340554.6:p.Lys25922Asn
ENST00000342992.10:c.96681G>C (TTN) ENSP00000343764.6:p.Lys32227Asn
ENST00000359218.9:c.77565G>C (TTN) ENSP00000352154.5:p.Lys25855Asn
ENST00000460472.6:c.77190G>C (TTN) ENSP00000434586.1:p.Lys25730Asn
ENST00000589042.5:c.104385G>C (TTN) MANE Select ENSP00000467141.1:p.Lys34795Asn
ENST00000591111.5:c.99462G>C (TTN) ENSP00000465570.1:p.Lys33154Asn
ENST00000615779.4:c.99462G>C (TTN) ENSP00000483597.1:p.Lys33154Asn
NM_001256850.1:c.99462G>C (TTN) NP_001243779.1:p.Lys33154Asn
NM_001267550.2:c.104385G>C (TTN) MANE Select NP_001254479.2:p.Lys34795Asn
NM_003319.4:c.77190G>C (TTN) NP_003310.4:p.Lys25730Asn
NM_133378.4:c.96681G>C (TTN) NP_596869.4:p.Lys32227Asn
NM_133432.3:c.77565G>C (TTN) NP_597676.3:p.Lys25855Asn
NM_133437.4:c.77766G>C (TTN) NP_597681.4:p.Lys25922Asn
NR_038271.1:n.446+8594C>G (TTN-AS1)
NR_038272.1:n.220-3502C>G (TTN-AS1)
XM_011511729.1:c.103482G>C (TTN) XP_011510031.1:p.Lys34494Asn
XM_011511730.1:c.77376G>C (TTN) XP_011510032.1:p.Lys25792Asn
XM_011511731.1:c.77235G>C (TTN) XP_011510033.1:p.Lys25745Asn
XM_017004819.1:c.103278G>C (TTN) XP_016860308.1:p.Lys34426Asn
XM_017004820.1:c.98676G>C (TTN) XP_016860309.1:p.Lys32892Asn
XM_017004821.1:c.98673G>C (TTN) XP_016860310.1:p.Lys32891Asn
XM_017004822.1:c.95715G>C (TTN) XP_016860311.1:p.Lys31905Asn
XM_017004823.1:c.77331G>C (TTN) XP_016860312.1:p.Lys25777Asn
XM_024453094.1:c.98826G>C (TTN) XP_024308862.1:p.Lys32942Asn
XM_024453095.1:c.98823G>C (TTN) XP_024308863.1:p.Lys32941Asn
XM_024453096.1:c.98256G>C (TTN) XP_024308864.1:p.Lys32752Asn
XM_024453097.1:c.95598G>C (TTN) XP_024308865.1:p.Lys31866Asn
XM_024453098.1:c.95517G>C (TTN) XP_024308866.1:p.Lys31839Asn
XM_024453099.1:c.77280G>C (TTN) XP_024308867.1:p.Lys25760Asn
XM_024453100.1:c.67134G>C (TTN) XP_024308868.1:p.Lys22378Asn