Canonical Allele Identifier: CA349411856

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532232T>A , CM000664.2:g.178532232T>A GRCh38
NC_000002.11:g.179396959T>A , CM000664.1:g.179396959T>A GRCh37
NC_000002.10:g.179105205T>A NCBI36
NG_011618.3:g.303571A>T , LRG_391:g.303571A>T
NG_051363.1:g.14406T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96679A>T (TTN) ENSP00000343764.6:p.Lys32227Ter
ENST00000342175.11:c.77764A>T (TTN) ENSP00000340554.6:p.Lys25922Ter
ENST00000359218.10:c.77563A>T (TTN) ENSP00000352154.5:p.Lys25855Ter
ENST00000342175.10:c.77764A>T (TTN) ENSP00000340554.6:p.Lys25922Ter
ENST00000342992.10:c.96679A>T (TTN) ENSP00000343764.6:p.Lys32227Ter
ENST00000359218.9:c.77563A>T (TTN) ENSP00000352154.5:p.Lys25855Ter
ENST00000460472.6:c.77188A>T (TTN) ENSP00000434586.1:p.Lys25730Ter
ENST00000589042.5:c.104383A>T (TTN) MANE Select ENSP00000467141.1:p.Lys34795Ter
ENST00000591111.5:c.99460A>T (TTN) ENSP00000465570.1:p.Lys33154Ter
ENST00000615779.4:c.99460A>T (TTN) ENSP00000483597.1:p.Lys33154Ter
NM_001256850.1:c.99460A>T (TTN) NP_001243779.1:p.Lys33154Ter
NM_001267550.2:c.104383A>T (TTN) MANE Select NP_001254479.2:p.Lys34795Ter
NM_003319.4:c.77188A>T (TTN) NP_003310.4:p.Lys25730Ter
NM_133378.4:c.96679A>T (TTN) NP_596869.4:p.Lys32227Ter
NM_133432.3:c.77563A>T (TTN) NP_597676.3:p.Lys25855Ter
NM_133437.4:c.77764A>T (TTN) NP_597681.4:p.Lys25922Ter
NR_038271.1:n.446+8596T>A (TTN-AS1)
NR_038272.1:n.220-3500T>A (TTN-AS1)
XM_011511729.1:c.103480A>T (TTN) XP_011510031.1:p.Lys34494Ter
XM_011511730.1:c.77374A>T (TTN) XP_011510032.1:p.Lys25792Ter
XM_011511731.1:c.77233A>T (TTN) XP_011510033.1:p.Lys25745Ter
XM_017004819.1:c.103276A>T (TTN) XP_016860308.1:p.Lys34426Ter
XM_017004820.1:c.98674A>T (TTN) XP_016860309.1:p.Lys32892Ter
XM_017004821.1:c.98671A>T (TTN) XP_016860310.1:p.Lys32891Ter
XM_017004822.1:c.95713A>T (TTN) XP_016860311.1:p.Lys31905Ter
XM_017004823.1:c.77329A>T (TTN) XP_016860312.1:p.Lys25777Ter
XM_024453094.1:c.98824A>T (TTN) XP_024308862.1:p.Lys32942Ter
XM_024453095.1:c.98821A>T (TTN) XP_024308863.1:p.Lys32941Ter
XM_024453096.1:c.98254A>T (TTN) XP_024308864.1:p.Lys32752Ter
XM_024453097.1:c.95596A>T (TTN) XP_024308865.1:p.Lys31866Ter
XM_024453098.1:c.95515A>T (TTN) XP_024308866.1:p.Lys31839Ter
XM_024453099.1:c.77278A>T (TTN) XP_024308867.1:p.Lys25760Ter
XM_024453100.1:c.67132A>T (TTN) XP_024308868.1:p.Lys22378Ter