Canonical Allele Identifier: CA178643

Linked Data

ClinVar Variation Id: 165933
dbSNP Id: rs727503588

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178591978G>A , CM000664.2:g.178591978G>A GRCh38
NC_000002.11:g.179456705G>A , CM000664.1:g.179456705G>A GRCh37
NC_000002.10:g.179164951G>A NCBI36
NG_011618.3:g.243825C>T , LRG_391:g.243825C>T
NG_051363.1:g.74152G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342175.11:n.33307C>T ENSP00000340554.6:p.His11103Tyr
ENST00000359218.10:n.33106C>T ENSP00000352154.5:p.His11036Tyr
ENST00000342175.10:c.33307C>T ENSP00000340554.6:p.His11103Tyr
ENST00000342992.10:c.52222C>T ENSP00000343764.6:p.His17408Tyr
ENST00000359218.9:c.33106C>T ENSP00000352154.5:p.His11036Tyr
ENST00000460472.6:c.32731C>T ENSP00000434586.1:p.His10911Tyr
ENST00000589042.5:c.59926C>T (TTN) MANE Select ENSP00000467141.1:p.His19976Tyr
ENST00000591111.5:c.55003C>T ENSP00000465570.1:p.His18335Tyr
ENST00000615779.4:c.55003C>T ENSP00000483597.1:p.His18335Tyr
NM_001256850.1:c.55003C>T (TTN) NP_001243779.1:p.His18335Tyr
NM_001267550.2:c.59926C>T (TTN) MANE Select NP_001254479.2:p.His19976Tyr
NM_003319.4:c.32731C>T (TTN) NP_003310.4:p.His10911Tyr
NM_133378.4:c.52222C>T (TTN) NP_596869.4:p.His17408Tyr
NM_133432.3:c.33106C>T (TTN) NP_597676.3:p.His11036Tyr
NM_133437.4:c.33307C>T (TTN) NP_597681.4:p.His11103Tyr
NR_038271.1:n.597-5618G>A (TTN-AS1)
NR_038272.1:n.3364+664G>A (TTN-AS1)
XM_011511729.1:c.59023C>T (TTN) XP_011510031.1:p.His19675Tyr
XM_011511730.1:c.32917C>T (TTN) XP_011510032.1:p.His10973Tyr
XM_011511731.1:c.32776C>T (TTN) XP_011510033.1:p.His10926Tyr
XM_017004819.1:c.58819C>T (TTN) XP_016860308.1:p.His19607Tyr
XM_017004820.1:c.54217C>T (TTN) XP_016860309.1:p.His18073Tyr
XM_017004821.1:c.54214C>T (TTN) XP_016860310.1:p.His18072Tyr
XM_017004822.1:c.51256C>T (TTN) XP_016860311.1:p.His17086Tyr
XM_017004823.1:c.32872C>T (TTN) XP_016860312.1:p.His10958Tyr
XM_024453094.1:c.54367C>T (TTN) XP_024308862.1:p.His18123Tyr
XM_024453095.1:c.54364C>T (TTN) XP_024308863.1:p.His18122Tyr
XM_024453096.1:c.53797C>T (TTN) XP_024308864.1:p.His17933Tyr
XM_024453097.1:c.51139C>T (TTN) XP_024308865.1:p.His17047Tyr
XM_024453098.1:c.51058C>T (TTN) XP_024308866.1:p.His17020Tyr
XM_024453099.1:c.32821C>T (TTN) XP_024308867.1:p.His10941Tyr
XM_024453100.1:c.22675C>T (TTN) XP_024308868.1:p.His7559Tyr