Canonical Allele Identifier: CA349455977

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544303T>A , CM000664.2:g.178544303T>A GRCh38
NC_000002.11:g.179409030T>A , CM000664.1:g.179409030T>A GRCh37
NC_000002.10:g.179117276T>A NCBI36
NG_011618.3:g.291500A>T , LRG_391:g.291500A>T
NG_051363.1:g.26477T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88222A>T (TTN) ENSP00000343764.6:p.Lys29408Ter
ENST00000342175.11:c.69307A>T (TTN) ENSP00000340554.6:p.Lys23103Ter
ENST00000359218.10:c.69106A>T (TTN) ENSP00000352154.5:p.Lys23036Ter
ENST00000342175.10:c.69307A>T (TTN) ENSP00000340554.6:p.Lys23103Ter
ENST00000342992.10:c.88222A>T (TTN) ENSP00000343764.6:p.Lys29408Ter
ENST00000359218.9:c.69106A>T (TTN) ENSP00000352154.5:p.Lys23036Ter
ENST00000460472.6:c.68731A>T (TTN) ENSP00000434586.1:p.Lys22911Ter
ENST00000589042.5:c.95926A>T (TTN) MANE Select ENSP00000467141.1:p.Lys31976Ter
ENST00000591111.5:c.91003A>T (TTN) ENSP00000465570.1:p.Lys30335Ter
ENST00000615779.4:c.91003A>T (TTN) ENSP00000483597.1:p.Lys30335Ter
NM_001256850.1:c.91003A>T (TTN) NP_001243779.1:p.Lys30335Ter
NM_001267550.2:c.95926A>T (TTN) MANE Select NP_001254479.2:p.Lys31976Ter
NM_003319.4:c.68731A>T (TTN) NP_003310.4:p.Lys22911Ter
NM_133378.4:c.88222A>T (TTN) NP_596869.4:p.Lys29408Ter
NM_133432.3:c.69106A>T (TTN) NP_597676.3:p.Lys23036Ter
NM_133437.4:c.69307A>T (TTN) NP_597681.4:p.Lys23103Ter
NR_038271.1:n.446+20667T>A (TTN-AS1)
NR_038272.1:n.2043+1942T>A (TTN-AS1)
XM_011511729.1:c.95023A>T (TTN) XP_011510031.1:p.Lys31675Ter
XM_011511730.1:c.68917A>T (TTN) XP_011510032.1:p.Lys22973Ter
XM_011511731.1:c.68776A>T (TTN) XP_011510033.1:p.Lys22926Ter
XM_017004819.1:c.94819A>T (TTN) XP_016860308.1:p.Lys31607Ter
XM_017004820.1:c.90217A>T (TTN) XP_016860309.1:p.Lys30073Ter
XM_017004821.1:c.90214A>T (TTN) XP_016860310.1:p.Lys30072Ter
XM_017004822.1:c.87256A>T (TTN) XP_016860311.1:p.Lys29086Ter
XM_017004823.1:c.68872A>T (TTN) XP_016860312.1:p.Lys22958Ter
XM_024453094.1:c.90367A>T (TTN) XP_024308862.1:p.Lys30123Ter
XM_024453095.1:c.90364A>T (TTN) XP_024308863.1:p.Lys30122Ter
XM_024453096.1:c.89797A>T (TTN) XP_024308864.1:p.Lys29933Ter
XM_024453097.1:c.87139A>T (TTN) XP_024308865.1:p.Lys29047Ter
XM_024453098.1:c.87058A>T (TTN) XP_024308866.1:p.Lys29020Ter
XM_024453099.1:c.68821A>T (TTN) XP_024308867.1:p.Lys22941Ter
XM_024453100.1:c.58675A>T (TTN) XP_024308868.1:p.Lys19559Ter