Canonical Allele Identifier: CA349411574

Linked Data

dbSNP Id: rs1689399918

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532126G>C , CM000664.2:g.178532126G>C GRCh38
NC_000002.11:g.179396853G>C , CM000664.1:g.179396853G>C GRCh37
NC_000002.10:g.179105099G>C NCBI36
NG_011618.3:g.303677C>G , LRG_391:g.303677C>G
NG_051363.1:g.14300G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96785C>G (TTN) ENSP00000343764.6:p.Ser32262Cys
ENST00000342175.11:c.77870C>G (TTN) ENSP00000340554.6:p.Ser25957Cys
ENST00000359218.10:c.77669C>G (TTN) ENSP00000352154.5:p.Ser25890Cys
ENST00000342175.10:c.77870C>G (TTN) ENSP00000340554.6:p.Ser25957Cys
ENST00000342992.10:c.96785C>G (TTN) ENSP00000343764.6:p.Ser32262Cys
ENST00000359218.9:c.77669C>G (TTN) ENSP00000352154.5:p.Ser25890Cys
ENST00000460472.6:c.77294C>G (TTN) ENSP00000434586.1:p.Ser25765Cys
ENST00000589042.5:c.104489C>G (TTN) MANE Select ENSP00000467141.1:p.Ser34830Cys
ENST00000591111.5:c.99566C>G (TTN) ENSP00000465570.1:p.Ser33189Cys
ENST00000615779.4:c.99566C>G (TTN) ENSP00000483597.1:p.Ser33189Cys
NM_001256850.1:c.99566C>G (TTN) NP_001243779.1:p.Ser33189Cys
NM_001267550.2:c.104489C>G (TTN) MANE Select NP_001254479.2:p.Ser34830Cys
NM_003319.4:c.77294C>G (TTN) NP_003310.4:p.Ser25765Cys
NM_133378.4:c.96785C>G (TTN) NP_596869.4:p.Ser32262Cys
NM_133432.3:c.77669C>G (TTN) NP_597676.3:p.Ser25890Cys
NM_133437.4:c.77870C>G (TTN) NP_597681.4:p.Ser25957Cys
NR_038271.1:n.446+8490G>C (TTN-AS1)
NR_038272.1:n.220-3606G>C (TTN-AS1)
XM_011511729.1:c.103586C>G (TTN) XP_011510031.1:p.Ser34529Cys
XM_011511730.1:c.77480C>G (TTN) XP_011510032.1:p.Ser25827Cys
XM_011511731.1:c.77339C>G (TTN) XP_011510033.1:p.Ser25780Cys
XM_017004819.1:c.103382C>G (TTN) XP_016860308.1:p.Ser34461Cys
XM_017004820.1:c.98780C>G (TTN) XP_016860309.1:p.Ser32927Cys
XM_017004821.1:c.98777C>G (TTN) XP_016860310.1:p.Ser32926Cys
XM_017004822.1:c.95819C>G (TTN) XP_016860311.1:p.Ser31940Cys
XM_017004823.1:c.77435C>G (TTN) XP_016860312.1:p.Ser25812Cys
XM_024453094.1:c.98930C>G (TTN) XP_024308862.1:p.Ser32977Cys
XM_024453095.1:c.98927C>G (TTN) XP_024308863.1:p.Ser32976Cys
XM_024453096.1:c.98360C>G (TTN) XP_024308864.1:p.Ser32787Cys
XM_024453097.1:c.95702C>G (TTN) XP_024308865.1:p.Ser31901Cys
XM_024453098.1:c.95621C>G (TTN) XP_024308866.1:p.Ser31874Cys
XM_024453099.1:c.77384C>G (TTN) XP_024308867.1:p.Ser25795Cys
XM_024453100.1:c.67238C>G (TTN) XP_024308868.1:p.Ser22413Cys