Canonical Allele Identifier: CA349601313

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567388C>A , CM000664.2:g.178567388C>A GRCh38
NC_000002.11:g.179432115C>A , CM000664.1:g.179432115C>A GRCh37
NC_000002.10:g.179140361C>A NCBI36
NG_011618.3:g.268415G>T , LRG_391:g.268415G>T
NG_051363.1:g.49562C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.71040G>T (TTN) ENSP00000343764.6:p.Lys23680Asn
ENST00000342175.11:c.52125G>T (TTN) ENSP00000340554.6:p.Lys17375Asn
ENST00000359218.10:c.51924G>T (TTN) ENSP00000352154.5:p.Lys17308Asn
ENST00000342175.10:c.52125G>T (TTN) ENSP00000340554.6:p.Lys17375Asn
ENST00000342992.10:c.71040G>T (TTN) ENSP00000343764.6:p.Lys23680Asn
ENST00000359218.9:c.51924G>T (TTN) ENSP00000352154.5:p.Lys17308Asn
ENST00000460472.6:c.51549G>T (TTN) ENSP00000434586.1:p.Lys17183Asn
ENST00000589042.5:c.78744G>T (TTN) MANE Select ENSP00000467141.1:p.Lys26248Asn
ENST00000591111.5:c.73821G>T (TTN) ENSP00000465570.1:p.Lys24607Asn
ENST00000615779.4:c.73821G>T (TTN) ENSP00000483597.1:p.Lys24607Asn
NM_001256850.1:c.73821G>T (TTN) NP_001243779.1:p.Lys24607Asn
NM_001267550.2:c.78744G>T (TTN) MANE Select NP_001254479.2:p.Lys26248Asn
NM_003319.4:c.51549G>T (TTN) NP_003310.4:p.Lys17183Asn
NM_133378.4:c.71040G>T (TTN) NP_596869.4:p.Lys23680Asn
NM_133432.3:c.51924G>T (TTN) NP_597676.3:p.Lys17308Asn
NM_133437.4:c.52125G>T (TTN) NP_597681.4:p.Lys17375Asn
NR_038271.1:n.447-3912C>A (TTN-AS1)
NR_038272.1:n.2044-15184C>A (TTN-AS1)
XM_011511729.1:c.77841G>T (TTN) XP_011510031.1:p.Lys25947Asn
XM_011511730.1:c.51735G>T (TTN) XP_011510032.1:p.Lys17245Asn
XM_011511731.1:c.51594G>T (TTN) XP_011510033.1:p.Lys17198Asn
XM_017004819.1:c.77637G>T (TTN) XP_016860308.1:p.Lys25879Asn
XM_017004820.1:c.73035G>T (TTN) XP_016860309.1:p.Lys24345Asn
XM_017004821.1:c.73032G>T (TTN) XP_016860310.1:p.Lys24344Asn
XM_017004822.1:c.70074G>T (TTN) XP_016860311.1:p.Lys23358Asn
XM_017004823.1:c.51690G>T (TTN) XP_016860312.1:p.Lys17230Asn
XM_024453094.1:c.73185G>T (TTN) XP_024308862.1:p.Lys24395Asn
XM_024453095.1:c.73182G>T (TTN) XP_024308863.1:p.Lys24394Asn
XM_024453096.1:c.72615G>T (TTN) XP_024308864.1:p.Lys24205Asn
XM_024453097.1:c.69957G>T (TTN) XP_024308865.1:p.Lys23319Asn
XM_024453098.1:c.69876G>T (TTN) XP_024308866.1:p.Lys23292Asn
XM_024453099.1:c.51639G>T (TTN) XP_024308867.1:p.Lys17213Asn
XM_024453100.1:c.41493G>T (TTN) XP_024308868.1:p.Lys13831Asn