Canonical Allele Identifier: CA349411946

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532271G>T , CM000664.2:g.178532271G>T GRCh38
NC_000002.11:g.179396998G>T , CM000664.1:g.179396998G>T GRCh37
NC_000002.10:g.179105244G>T NCBI36
NG_011618.3:g.303532C>A , LRG_391:g.303532C>A
NG_051363.1:g.14445G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96640C>A (TTN) ENSP00000343764.6:p.His32214Asn
ENST00000342175.11:c.77725C>A (TTN) ENSP00000340554.6:p.His25909Asn
ENST00000359218.10:c.77524C>A (TTN) ENSP00000352154.5:p.His25842Asn
ENST00000342175.10:c.77725C>A (TTN) ENSP00000340554.6:p.His25909Asn
ENST00000342992.10:c.96640C>A (TTN) ENSP00000343764.6:p.His32214Asn
ENST00000359218.9:c.77524C>A (TTN) ENSP00000352154.5:p.His25842Asn
ENST00000460472.6:c.77149C>A (TTN) ENSP00000434586.1:p.His25717Asn
ENST00000589042.5:c.104344C>A (TTN) MANE Select ENSP00000467141.1:p.His34782Asn
ENST00000591111.5:c.99421C>A (TTN) ENSP00000465570.1:p.His33141Asn
ENST00000615779.4:c.99421C>A (TTN) ENSP00000483597.1:p.His33141Asn
NM_001256850.1:c.99421C>A (TTN) NP_001243779.1:p.His33141Asn
NM_001267550.2:c.104344C>A (TTN) MANE Select NP_001254479.2:p.His34782Asn
NM_003319.4:c.77149C>A (TTN) NP_003310.4:p.His25717Asn
NM_133378.4:c.96640C>A (TTN) NP_596869.4:p.His32214Asn
NM_133432.3:c.77524C>A (TTN) NP_597676.3:p.His25842Asn
NM_133437.4:c.77725C>A (TTN) NP_597681.4:p.His25909Asn
NR_038271.1:n.446+8635G>T (TTN-AS1)
NR_038272.1:n.220-3461G>T (TTN-AS1)
XM_011511729.1:c.103441C>A (TTN) XP_011510031.1:p.His34481Asn
XM_011511730.1:c.77335C>A (TTN) XP_011510032.1:p.His25779Asn
XM_011511731.1:c.77194C>A (TTN) XP_011510033.1:p.His25732Asn
XM_017004819.1:c.103237C>A (TTN) XP_016860308.1:p.His34413Asn
XM_017004820.1:c.98635C>A (TTN) XP_016860309.1:p.His32879Asn
XM_017004821.1:c.98632C>A (TTN) XP_016860310.1:p.His32878Asn
XM_017004822.1:c.95674C>A (TTN) XP_016860311.1:p.His31892Asn
XM_017004823.1:c.77290C>A (TTN) XP_016860312.1:p.His25764Asn
XM_024453094.1:c.98785C>A (TTN) XP_024308862.1:p.His32929Asn
XM_024453095.1:c.98782C>A (TTN) XP_024308863.1:p.His32928Asn
XM_024453096.1:c.98215C>A (TTN) XP_024308864.1:p.His32739Asn
XM_024453097.1:c.95557C>A (TTN) XP_024308865.1:p.His31853Asn
XM_024453098.1:c.95476C>A (TTN) XP_024308866.1:p.His31826Asn
XM_024453099.1:c.77239C>A (TTN) XP_024308867.1:p.His25747Asn
XM_024453100.1:c.67093C>A (TTN) XP_024308868.1:p.His22365Asn