Canonical Allele Identifier: CA349600914

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567293T>A , CM000664.2:g.178567293T>A GRCh38
NC_000002.11:g.179432020T>A , CM000664.1:g.179432020T>A GRCh37
NC_000002.10:g.179140266T>A NCBI36
NG_011618.3:g.268510A>T , LRG_391:g.268510A>T
NG_051363.1:g.49467T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.71135A>T (TTN) ENSP00000343764.6:p.Asn23712Ile
ENST00000342175.11:c.52220A>T (TTN) ENSP00000340554.6:p.Asn17407Ile
ENST00000359218.10:c.52019A>T (TTN) ENSP00000352154.5:p.Asn17340Ile
ENST00000342175.10:c.52220A>T (TTN) ENSP00000340554.6:p.Asn17407Ile
ENST00000342992.10:c.71135A>T (TTN) ENSP00000343764.6:p.Asn23712Ile
ENST00000359218.9:c.52019A>T (TTN) ENSP00000352154.5:p.Asn17340Ile
ENST00000460472.6:c.51644A>T (TTN) ENSP00000434586.1:p.Asn17215Ile
ENST00000589042.5:c.78839A>T (TTN) MANE Select ENSP00000467141.1:p.Asn26280Ile
ENST00000591111.5:c.73916A>T (TTN) ENSP00000465570.1:p.Asn24639Ile
ENST00000615779.4:c.73916A>T (TTN) ENSP00000483597.1:p.Asn24639Ile
NM_001256850.1:c.73916A>T (TTN) NP_001243779.1:p.Asn24639Ile
NM_001267550.2:c.78839A>T (TTN) MANE Select NP_001254479.2:p.Asn26280Ile
NM_003319.4:c.51644A>T (TTN) NP_003310.4:p.Asn17215Ile
NM_133378.4:c.71135A>T (TTN) NP_596869.4:p.Asn23712Ile
NM_133432.3:c.52019A>T (TTN) NP_597676.3:p.Asn17340Ile
NM_133437.4:c.52220A>T (TTN) NP_597681.4:p.Asn17407Ile
NR_038271.1:n.447-4007T>A (TTN-AS1)
NR_038272.1:n.2044-15279T>A (TTN-AS1)
XM_011511729.1:c.77936A>T (TTN) XP_011510031.1:p.Asn25979Ile
XM_011511730.1:c.51830A>T (TTN) XP_011510032.1:p.Asn17277Ile
XM_011511731.1:c.51689A>T (TTN) XP_011510033.1:p.Asn17230Ile
XM_017004819.1:c.77732A>T (TTN) XP_016860308.1:p.Asn25911Ile
XM_017004820.1:c.73130A>T (TTN) XP_016860309.1:p.Asn24377Ile
XM_017004821.1:c.73127A>T (TTN) XP_016860310.1:p.Asn24376Ile
XM_017004822.1:c.70169A>T (TTN) XP_016860311.1:p.Asn23390Ile
XM_017004823.1:c.51785A>T (TTN) XP_016860312.1:p.Asn17262Ile
XM_024453094.1:c.73280A>T (TTN) XP_024308862.1:p.Asn24427Ile
XM_024453095.1:c.73277A>T (TTN) XP_024308863.1:p.Asn24426Ile
XM_024453096.1:c.72710A>T (TTN) XP_024308864.1:p.Asn24237Ile
XM_024453097.1:c.70052A>T (TTN) XP_024308865.1:p.Asn23351Ile
XM_024453098.1:c.69971A>T (TTN) XP_024308866.1:p.Asn23324Ile
XM_024453099.1:c.51734A>T (TTN) XP_024308867.1:p.Asn17245Ile
XM_024453100.1:c.41588A>T (TTN) XP_024308868.1:p.Asn13863Ile