Canonical Allele Identifier: CA308968

Linked Data

ClinVar Variation Id: 202280
dbSNP Id: rs370810609

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178569089A>G , CM000664.2:g.178569089A>G GRCh38
NC_000002.11:g.179433816A>G , CM000664.1:g.179433816A>G GRCh37
NC_000002.10:g.179142062A>G NCBI36
NG_011618.3:g.266714T>C , LRG_391:g.266714T>C
NG_051363.1:g.51263A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342175.11:n.50424T>C ENSP00000340554.6:p.Tyr16808=
ENST00000359218.10:n.50223T>C ENSP00000352154.5:p.Tyr16741=
ENST00000342175.10:c.50424T>C ENSP00000340554.6:p.Tyr16808=
ENST00000342992.10:c.69339T>C ENSP00000343764.6:p.Tyr23113=
ENST00000359218.9:c.50223T>C ENSP00000352154.5:p.Tyr16741=
ENST00000460472.6:c.49848T>C ENSP00000434586.1:p.Tyr16616=
ENST00000589042.5:c.77043T>C (TTN) MANE Select ENSP00000467141.1:p.Tyr25681=
ENST00000591111.5:c.72120T>C ENSP00000465570.1:p.Tyr24040=
ENST00000615779.4:c.72120T>C ENSP00000483597.1:p.Tyr24040=
NM_001256850.1:c.72120T>C (TTN) NP_001243779.1:p.Tyr24040=
NM_001267550.2:c.77043T>C (TTN) MANE Select NP_001254479.2:p.Tyr25681=
NM_003319.4:c.49848T>C (TTN) NP_003310.4:p.Tyr16616=
NM_133378.4:c.69339T>C (TTN) NP_596869.4:p.Tyr23113=
NM_133432.3:c.50223T>C (TTN) NP_597676.3:p.Tyr16741=
NM_133437.4:c.50424T>C (TTN) NP_597681.4:p.Tyr16808=
NR_038271.1:n.447-2211A>G (TTN-AS1)
NR_038272.1:n.2044-13483A>G (TTN-AS1)
XM_011511729.1:c.76140T>C (TTN) XP_011510031.1:p.Tyr25380=
XM_011511730.1:c.50034T>C (TTN) XP_011510032.1:p.Tyr16678=
XM_011511731.1:c.49893T>C (TTN) XP_011510033.1:p.Tyr16631=
XM_017004819.1:c.75936T>C (TTN) XP_016860308.1:p.Tyr25312=
XM_017004820.1:c.71334T>C (TTN) XP_016860309.1:p.Tyr23778=
XM_017004821.1:c.71331T>C (TTN) XP_016860310.1:p.Tyr23777=
XM_017004822.1:c.68373T>C (TTN) XP_016860311.1:p.Tyr22791=
XM_017004823.1:c.49989T>C (TTN) XP_016860312.1:p.Tyr16663=
XM_024453094.1:c.71484T>C (TTN) XP_024308862.1:p.Tyr23828=
XM_024453095.1:c.71481T>C (TTN) XP_024308863.1:p.Tyr23827=
XM_024453096.1:c.70914T>C (TTN) XP_024308864.1:p.Tyr23638=
XM_024453097.1:c.68256T>C (TTN) XP_024308865.1:p.Tyr22752=
XM_024453098.1:c.68175T>C (TTN) XP_024308866.1:p.Tyr22725=
XM_024453099.1:c.49938T>C (TTN) XP_024308867.1:p.Tyr16646=
XM_024453100.1:c.39792T>C (TTN) XP_024308868.1:p.Tyr13264=