Canonical Allele Identifier: CA349480148

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591022G>T , CM000664.2:g.178591022G>T GRCh38
NC_000002.11:g.179455749G>T , CM000664.1:g.179455749G>T GRCh37
NC_000002.10:g.179163995G>T NCBI36
NG_011618.3:g.244781C>A , LRG_391:g.244781C>A
NG_051363.1:g.73196G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.52999C>A (TTN) ENSP00000343764.6:p.His17667Asn
ENST00000342175.11:c.34084C>A (TTN) ENSP00000340554.6:p.His11362Asn
ENST00000359218.10:c.33883C>A (TTN) ENSP00000352154.5:p.His11295Asn
ENST00000342175.10:c.34084C>A (TTN) ENSP00000340554.6:p.His11362Asn
ENST00000342992.10:c.52999C>A (TTN) ENSP00000343764.6:p.His17667Asn
ENST00000359218.9:c.33883C>A (TTN) ENSP00000352154.5:p.His11295Asn
ENST00000460472.6:c.33508C>A (TTN) ENSP00000434586.1:p.His11170Asn
ENST00000589042.5:c.60703C>A (TTN) MANE Select ENSP00000467141.1:p.His20235Asn
ENST00000591111.5:c.55780C>A (TTN) ENSP00000465570.1:p.His18594Asn
ENST00000615779.4:c.55780C>A (TTN) ENSP00000483597.1:p.His18594Asn
NM_001256850.1:c.55780C>A (TTN) NP_001243779.1:p.His18594Asn
NM_001267550.2:c.60703C>A (TTN) MANE Select NP_001254479.2:p.His20235Asn
NM_003319.4:c.33508C>A (TTN) NP_003310.4:p.His11170Asn
NM_133378.4:c.52999C>A (TTN) NP_596869.4:p.His17667Asn
NM_133432.3:c.33883C>A (TTN) NP_597676.3:p.His11295Asn
NM_133437.4:c.34084C>A (TTN) NP_597681.4:p.His11362Asn
NR_038271.1:n.597-6574G>T (TTN-AS1)
NR_038272.1:n.3189-117G>T (TTN-AS1)
XM_011511729.1:c.59800C>A (TTN) XP_011510031.1:p.His19934Asn
XM_011511730.1:c.33694C>A (TTN) XP_011510032.1:p.His11232Asn
XM_011511731.1:c.33553C>A (TTN) XP_011510033.1:p.His11185Asn
XM_017004819.1:c.59596C>A (TTN) XP_016860308.1:p.His19866Asn
XM_017004820.1:c.54994C>A (TTN) XP_016860309.1:p.His18332Asn
XM_017004821.1:c.54991C>A (TTN) XP_016860310.1:p.His18331Asn
XM_017004822.1:c.52033C>A (TTN) XP_016860311.1:p.His17345Asn
XM_017004823.1:c.33649C>A (TTN) XP_016860312.1:p.His11217Asn
XM_024453094.1:c.55144C>A (TTN) XP_024308862.1:p.His18382Asn
XM_024453095.1:c.55141C>A (TTN) XP_024308863.1:p.His18381Asn
XM_024453096.1:c.54574C>A (TTN) XP_024308864.1:p.His18192Asn
XM_024453097.1:c.51916C>A (TTN) XP_024308865.1:p.His17306Asn
XM_024453098.1:c.51835C>A (TTN) XP_024308866.1:p.His17279Asn
XM_024453099.1:c.33598C>A (TTN) XP_024308867.1:p.His11200Asn
XM_024453100.1:c.23452C>A (TTN) XP_024308868.1:p.His7818Asn