Canonical Allele Identifier: CA349446429

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543349C>A , CM000664.2:g.178543349C>A GRCh38
NC_000002.11:g.179408076C>A , CM000664.1:g.179408076C>A GRCh37
NC_000002.10:g.179116322C>A NCBI36
NG_011618.3:g.292454G>T , LRG_391:g.292454G>T
NG_051363.1:g.25523C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.88920G>T (TTN) ENSP00000343764.6:p.Lys29640Asn
ENST00000342175.11:c.70005G>T (TTN) ENSP00000340554.6:p.Lys23335Asn
ENST00000359218.10:c.69804G>T (TTN) ENSP00000352154.5:p.Lys23268Asn
ENST00000342175.10:c.70005G>T (TTN) ENSP00000340554.6:p.Lys23335Asn
ENST00000342992.10:c.88920G>T (TTN) ENSP00000343764.6:p.Lys29640Asn
ENST00000359218.9:c.69804G>T (TTN) ENSP00000352154.5:p.Lys23268Asn
ENST00000460472.6:c.69429G>T (TTN) ENSP00000434586.1:p.Lys23143Asn
ENST00000589042.5:c.96624G>T (TTN) MANE Select ENSP00000467141.1:p.Lys32208Asn
ENST00000591111.5:c.91701G>T (TTN) ENSP00000465570.1:p.Lys30567Asn
ENST00000615779.4:c.91701G>T (TTN) ENSP00000483597.1:p.Lys30567Asn
NM_001256850.1:c.91701G>T (TTN) NP_001243779.1:p.Lys30567Asn
NM_001267550.2:c.96624G>T (TTN) MANE Select NP_001254479.2:p.Lys32208Asn
NM_003319.4:c.69429G>T (TTN) NP_003310.4:p.Lys23143Asn
NM_133378.4:c.88920G>T (TTN) NP_596869.4:p.Lys29640Asn
NM_133432.3:c.69804G>T (TTN) NP_597676.3:p.Lys23268Asn
NM_133437.4:c.70005G>T (TTN) NP_597681.4:p.Lys23335Asn
NR_038271.1:n.446+19713C>A (TTN-AS1)
NR_038272.1:n.2043+988C>A (TTN-AS1)
XM_011511729.1:c.95721G>T (TTN) XP_011510031.1:p.Lys31907Asn
XM_011511730.1:c.69615G>T (TTN) XP_011510032.1:p.Lys23205Asn
XM_011511731.1:c.69474G>T (TTN) XP_011510033.1:p.Lys23158Asn
XM_017004819.1:c.95517G>T (TTN) XP_016860308.1:p.Lys31839Asn
XM_017004820.1:c.90915G>T (TTN) XP_016860309.1:p.Lys30305Asn
XM_017004821.1:c.90912G>T (TTN) XP_016860310.1:p.Lys30304Asn
XM_017004822.1:c.87954G>T (TTN) XP_016860311.1:p.Lys29318Asn
XM_017004823.1:c.69570G>T (TTN) XP_016860312.1:p.Lys23190Asn
XM_024453094.1:c.91065G>T (TTN) XP_024308862.1:p.Lys30355Asn
XM_024453095.1:c.91062G>T (TTN) XP_024308863.1:p.Lys30354Asn
XM_024453096.1:c.90495G>T (TTN) XP_024308864.1:p.Lys30165Asn
XM_024453097.1:c.87837G>T (TTN) XP_024308865.1:p.Lys29279Asn
XM_024453098.1:c.87756G>T (TTN) XP_024308866.1:p.Lys29252Asn
XM_024453099.1:c.69519G>T (TTN) XP_024308867.1:p.Lys23173Asn
XM_024453100.1:c.59373G>T (TTN) XP_024308868.1:p.Lys19791Asn