Canonical Allele Identifier: CA349455971

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178544301T>G , CM000664.2:g.178544301T>G GRCh38
NC_000002.11:g.179409028T>G , CM000664.1:g.179409028T>G GRCh37
NC_000002.10:g.179117274T>G NCBI36
NG_011618.3:g.291502A>C , LRG_391:g.291502A>C
NG_051363.1:g.26475T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.88224A>C (TTN) ENSP00000343764.6:p.Lys29408Asn
ENST00000342175.11:c.69309A>C (TTN) ENSP00000340554.6:p.Lys23103Asn
ENST00000359218.10:c.69108A>C (TTN) ENSP00000352154.5:p.Lys23036Asn
ENST00000342175.10:c.69309A>C (TTN) ENSP00000340554.6:p.Lys23103Asn
ENST00000342992.10:c.88224A>C (TTN) ENSP00000343764.6:p.Lys29408Asn
ENST00000359218.9:c.69108A>C (TTN) ENSP00000352154.5:p.Lys23036Asn
ENST00000460472.6:c.68733A>C (TTN) ENSP00000434586.1:p.Lys22911Asn
ENST00000589042.5:c.95928A>C (TTN) MANE Select ENSP00000467141.1:p.Lys31976Asn
ENST00000591111.5:c.91005A>C (TTN) ENSP00000465570.1:p.Lys30335Asn
ENST00000615779.4:c.91005A>C (TTN) ENSP00000483597.1:p.Lys30335Asn
NM_001256850.1:c.91005A>C (TTN) NP_001243779.1:p.Lys30335Asn
NM_001267550.2:c.95928A>C (TTN) MANE Select NP_001254479.2:p.Lys31976Asn
NM_003319.4:c.68733A>C (TTN) NP_003310.4:p.Lys22911Asn
NM_133378.4:c.88224A>C (TTN) NP_596869.4:p.Lys29408Asn
NM_133432.3:c.69108A>C (TTN) NP_597676.3:p.Lys23036Asn
NM_133437.4:c.69309A>C (TTN) NP_597681.4:p.Lys23103Asn
NR_038271.1:n.446+20665T>G (TTN-AS1)
NR_038272.1:n.2043+1940T>G (TTN-AS1)
XM_011511729.1:c.95025A>C (TTN) XP_011510031.1:p.Lys31675Asn
XM_011511730.1:c.68919A>C (TTN) XP_011510032.1:p.Lys22973Asn
XM_011511731.1:c.68778A>C (TTN) XP_011510033.1:p.Lys22926Asn
XM_017004819.1:c.94821A>C (TTN) XP_016860308.1:p.Lys31607Asn
XM_017004820.1:c.90219A>C (TTN) XP_016860309.1:p.Lys30073Asn
XM_017004821.1:c.90216A>C (TTN) XP_016860310.1:p.Lys30072Asn
XM_017004822.1:c.87258A>C (TTN) XP_016860311.1:p.Lys29086Asn
XM_017004823.1:c.68874A>C (TTN) XP_016860312.1:p.Lys22958Asn
XM_024453094.1:c.90369A>C (TTN) XP_024308862.1:p.Lys30123Asn
XM_024453095.1:c.90366A>C (TTN) XP_024308863.1:p.Lys30122Asn
XM_024453096.1:c.89799A>C (TTN) XP_024308864.1:p.Lys29933Asn
XM_024453097.1:c.87141A>C (TTN) XP_024308865.1:p.Lys29047Asn
XM_024453098.1:c.87060A>C (TTN) XP_024308866.1:p.Lys29020Asn
XM_024453099.1:c.68823A>C (TTN) XP_024308867.1:p.Lys22941Asn
XM_024453100.1:c.58677A>C (TTN) XP_024308868.1:p.Lys19559Asn