Canonical Allele Identifier: CA1989386

Linked Data

ClinVar Variation Id: 332769
dbSNP Id: rs761074887

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178565987G>C , CM000664.2:g.178565987G>C GRCh38
NC_000002.11:g.179430714G>C , CM000664.1:g.179430714G>C GRCh37
NC_000002.10:g.179138960G>C NCBI36
NG_011618.3:g.269816C>G , LRG_391:g.269816C>G
NG_051363.1:g.48161G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000342175.11:n.53526C>G ENSP00000340554.6:p.Val17842=
ENST00000359218.10:n.53325C>G ENSP00000352154.5:p.Val17775=
ENST00000342175.10:c.53526C>G ENSP00000340554.6:p.Val17842=
ENST00000342992.10:c.72441C>G ENSP00000343764.6:p.Val24147=
ENST00000359218.9:c.53325C>G ENSP00000352154.5:p.Val17775=
ENST00000460472.6:c.52950C>G ENSP00000434586.1:p.Val17650=
ENST00000589042.5:c.80145C>G (TTN) MANE Select ENSP00000467141.1:p.Val26715=
ENST00000591111.5:c.75222C>G ENSP00000465570.1:p.Val25074=
ENST00000615779.4:c.75222C>G ENSP00000483597.1:p.Val25074=
NM_001256850.1:c.75222C>G (TTN) NP_001243779.1:p.Val25074=
NM_001267550.2:c.80145C>G (TTN) MANE Select NP_001254479.2:p.Val26715=
NM_003319.4:c.52950C>G (TTN) NP_003310.4:p.Val17650=
NM_133378.4:c.72441C>G (TTN) NP_596869.4:p.Val24147=
NM_133432.3:c.53325C>G (TTN) NP_597676.3:p.Val17775=
NM_133437.4:c.53526C>G (TTN) NP_597681.4:p.Val17842=
NR_038271.1:n.447-5313G>C (TTN-AS1)
NR_038272.1:n.2044-16585G>C (TTN-AS1)
XM_011511729.1:c.79242C>G (TTN) XP_011510031.1:p.Val26414=
XM_011511730.1:c.53136C>G (TTN) XP_011510032.1:p.Val17712=
XM_011511731.1:c.52995C>G (TTN) XP_011510033.1:p.Val17665=
XM_017004819.1:c.79038C>G (TTN) XP_016860308.1:p.Val26346=
XM_017004820.1:c.74436C>G (TTN) XP_016860309.1:p.Val24812=
XM_017004821.1:c.74433C>G (TTN) XP_016860310.1:p.Val24811=
XM_017004822.1:c.71475C>G (TTN) XP_016860311.1:p.Val23825=
XM_017004823.1:c.53091C>G (TTN) XP_016860312.1:p.Val17697=
XM_024453094.1:c.74586C>G (TTN) XP_024308862.1:p.Val24862=
XM_024453095.1:c.74583C>G (TTN) XP_024308863.1:p.Val24861=
XM_024453096.1:c.74016C>G (TTN) XP_024308864.1:p.Val24672=
XM_024453097.1:c.71358C>G (TTN) XP_024308865.1:p.Val23786=
XM_024453098.1:c.71277C>G (TTN) XP_024308866.1:p.Val23759=
XM_024453099.1:c.53040C>G (TTN) XP_024308867.1:p.Val17680=
XM_024453100.1:c.42894C>G (TTN) XP_024308868.1:p.Val14298=