Canonical Allele Identifier: CA349406070

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178530289C>A , CM000664.2:g.178530289C>A GRCh38
NC_000002.11:g.179395016C>A , CM000664.1:g.179395016C>A GRCh37
NC_000002.10:g.179103262C>A NCBI36
NG_011618.3:g.305514G>T , LRG_391:g.305514G>T
NG_051363.1:g.12463C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.98622G>T (TTN) ENSP00000343764.6:p.Lys32874Asn
ENST00000342175.11:c.79707G>T (TTN) ENSP00000340554.6:p.Lys26569Asn
ENST00000359218.10:c.79506G>T (TTN) ENSP00000352154.5:p.Lys26502Asn
ENST00000342175.10:c.79707G>T (TTN) ENSP00000340554.6:p.Lys26569Asn
ENST00000342992.10:c.98622G>T (TTN) ENSP00000343764.6:p.Lys32874Asn
ENST00000359218.9:c.79506G>T (TTN) ENSP00000352154.5:p.Lys26502Asn
ENST00000460472.6:c.79131G>T (TTN) ENSP00000434586.1:p.Lys26377Asn
ENST00000589042.5:c.106326G>T (TTN) MANE Select ENSP00000467141.1:p.Lys35442Asn
ENST00000591111.5:c.101403G>T (TTN) ENSP00000465570.1:p.Lys33801Asn
ENST00000615779.4:c.101403G>T (TTN) ENSP00000483597.1:p.Lys33801Asn
NM_001256850.1:c.101403G>T (TTN) NP_001243779.1:p.Lys33801Asn
NM_001267550.2:c.106326G>T (TTN) MANE Select NP_001254479.2:p.Lys35442Asn
NM_003319.4:c.79131G>T (TTN) NP_003310.4:p.Lys26377Asn
NM_133378.4:c.98622G>T (TTN) NP_596869.4:p.Lys32874Asn
NM_133432.3:c.79506G>T (TTN) NP_597676.3:p.Lys26502Asn
NM_133437.4:c.79707G>T (TTN) NP_597681.4:p.Lys26569Asn
NR_038271.1:n.446+6653C>A (TTN-AS1)
NR_038272.1:n.220-5443C>A (TTN-AS1)
XM_011511729.1:c.105423G>T (TTN) XP_011510031.1:p.Lys35141Asn
XM_011511730.1:c.79317G>T (TTN) XP_011510032.1:p.Lys26439Asn
XM_011511731.1:c.79176G>T (TTN) XP_011510033.1:p.Lys26392Asn
XM_017004819.1:c.105219G>T (TTN) XP_016860308.1:p.Lys35073Asn
XM_017004820.1:c.100617G>T (TTN) XP_016860309.1:p.Lys33539Asn
XM_017004821.1:c.100614G>T (TTN) XP_016860310.1:p.Lys33538Asn
XM_017004822.1:c.97656G>T (TTN) XP_016860311.1:p.Lys32552Asn
XM_017004823.1:c.79272G>T (TTN) XP_016860312.1:p.Lys26424Asn
XM_024453094.1:c.100767G>T (TTN) XP_024308862.1:p.Lys33589Asn
XM_024453095.1:c.100764G>T (TTN) XP_024308863.1:p.Lys33588Asn
XM_024453096.1:c.100197G>T (TTN) XP_024308864.1:p.Lys33399Asn
XM_024453097.1:c.97539G>T (TTN) XP_024308865.1:p.Lys32513Asn
XM_024453098.1:c.97458G>T (TTN) XP_024308866.1:p.Lys32486Asn
XM_024453099.1:c.79221G>T (TTN) XP_024308867.1:p.Lys26407Asn
XM_024453100.1:c.69075G>T (TTN) XP_024308868.1:p.Lys23025Asn