Canonical Allele Identifier: CA349411631

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532142C>A , CM000664.2:g.178532142C>A GRCh38
NC_000002.11:g.179396869C>A , CM000664.1:g.179396869C>A GRCh37
NC_000002.10:g.179105115C>A NCBI36
NG_011618.3:g.303661G>T , LRG_391:g.303661G>T
NG_051363.1:g.14316C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96769G>T (TTN) ENSP00000343764.6:p.Ala32257Ser
ENST00000342175.11:c.77854G>T (TTN) ENSP00000340554.6:p.Ala25952Ser
ENST00000359218.10:c.77653G>T (TTN) ENSP00000352154.5:p.Ala25885Ser
ENST00000342175.10:c.77854G>T (TTN) ENSP00000340554.6:p.Ala25952Ser
ENST00000342992.10:c.96769G>T (TTN) ENSP00000343764.6:p.Ala32257Ser
ENST00000359218.9:c.77653G>T (TTN) ENSP00000352154.5:p.Ala25885Ser
ENST00000460472.6:c.77278G>T (TTN) ENSP00000434586.1:p.Ala25760Ser
ENST00000589042.5:c.104473G>T (TTN) MANE Select ENSP00000467141.1:p.Ala34825Ser
ENST00000591111.5:c.99550G>T (TTN) ENSP00000465570.1:p.Ala33184Ser
ENST00000615779.4:c.99550G>T (TTN) ENSP00000483597.1:p.Ala33184Ser
NM_001256850.1:c.99550G>T (TTN) NP_001243779.1:p.Ala33184Ser
NM_001267550.2:c.104473G>T (TTN) MANE Select NP_001254479.2:p.Ala34825Ser
NM_003319.4:c.77278G>T (TTN) NP_003310.4:p.Ala25760Ser
NM_133378.4:c.96769G>T (TTN) NP_596869.4:p.Ala32257Ser
NM_133432.3:c.77653G>T (TTN) NP_597676.3:p.Ala25885Ser
NM_133437.4:c.77854G>T (TTN) NP_597681.4:p.Ala25952Ser
NR_038271.1:n.446+8506C>A (TTN-AS1)
NR_038272.1:n.220-3590C>A (TTN-AS1)
XM_011511729.1:c.103570G>T (TTN) XP_011510031.1:p.Ala34524Ser
XM_011511730.1:c.77464G>T (TTN) XP_011510032.1:p.Ala25822Ser
XM_011511731.1:c.77323G>T (TTN) XP_011510033.1:p.Ala25775Ser
XM_017004819.1:c.103366G>T (TTN) XP_016860308.1:p.Ala34456Ser
XM_017004820.1:c.98764G>T (TTN) XP_016860309.1:p.Ala32922Ser
XM_017004821.1:c.98761G>T (TTN) XP_016860310.1:p.Ala32921Ser
XM_017004822.1:c.95803G>T (TTN) XP_016860311.1:p.Ala31935Ser
XM_017004823.1:c.77419G>T (TTN) XP_016860312.1:p.Ala25807Ser
XM_024453094.1:c.98914G>T (TTN) XP_024308862.1:p.Ala32972Ser
XM_024453095.1:c.98911G>T (TTN) XP_024308863.1:p.Ala32971Ser
XM_024453096.1:c.98344G>T (TTN) XP_024308864.1:p.Ala32782Ser
XM_024453097.1:c.95686G>T (TTN) XP_024308865.1:p.Ala31896Ser
XM_024453098.1:c.95605G>T (TTN) XP_024308866.1:p.Ala31869Ser
XM_024453099.1:c.77368G>T (TTN) XP_024308867.1:p.Ala25790Ser
XM_024453100.1:c.67222G>T (TTN) XP_024308868.1:p.Ala22408Ser