Canonical Allele Identifier: CA349436925

Linked Data

dbSNP Id: rs1404142823

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178584869T>A , CM000664.2:g.178584869T>A GRCh38
NC_000002.11:g.179449596T>A , CM000664.1:g.179449596T>A GRCh37
NC_000002.10:g.179157842T>A NCBI36
NG_011618.3:g.250934A>T , LRG_391:g.250934A>T
NG_051363.1:g.67043T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.57068A>T (TTN) ENSP00000343764.6:p.Asn19023Ile
ENST00000342175.11:c.38153A>T (TTN) ENSP00000340554.6:p.Asn12718Ile
ENST00000359218.10:c.37952A>T (TTN) ENSP00000352154.5:p.Asn12651Ile
ENST00000342175.10:c.38153A>T (TTN) ENSP00000340554.6:p.Asn12718Ile
ENST00000342992.10:c.57068A>T (TTN) ENSP00000343764.6:p.Asn19023Ile
ENST00000359218.9:c.37952A>T (TTN) ENSP00000352154.5:p.Asn12651Ile
ENST00000460472.6:c.37577A>T (TTN) ENSP00000434586.1:p.Asn12526Ile
ENST00000589042.5:c.64772A>T (TTN) MANE Select ENSP00000467141.1:p.Asn21591Ile
ENST00000591111.5:c.59849A>T (TTN) ENSP00000465570.1:p.Asn19950Ile
ENST00000615779.4:c.59849A>T (TTN) ENSP00000483597.1:p.Asn19950Ile
NM_001256850.1:c.59849A>T (TTN) NP_001243779.1:p.Asn19950Ile
NM_001267550.2:c.64772A>T (TTN) MANE Select NP_001254479.2:p.Asn21591Ile
NM_003319.4:c.37577A>T (TTN) NP_003310.4:p.Asn12526Ile
NM_133378.4:c.57068A>T (TTN) NP_596869.4:p.Asn19023Ile
NM_133432.3:c.37952A>T (TTN) NP_597676.3:p.Asn12651Ile
NM_133437.4:c.38153A>T (TTN) NP_597681.4:p.Asn12718Ile
NR_038271.1:n.597-12727T>A (TTN-AS1)
NR_038272.1:n.3064T>A (TTN-AS1)
XM_011511729.1:c.63869A>T (TTN) XP_011510031.1:p.Asn21290Ile
XM_011511730.1:c.37763A>T (TTN) XP_011510032.1:p.Asn12588Ile
XM_011511731.1:c.37622A>T (TTN) XP_011510033.1:p.Asn12541Ile
XM_017004819.1:c.63665A>T (TTN) XP_016860308.1:p.Asn21222Ile
XM_017004820.1:c.59063A>T (TTN) XP_016860309.1:p.Asn19688Ile
XM_017004821.1:c.59060A>T (TTN) XP_016860310.1:p.Asn19687Ile
XM_017004822.1:c.56102A>T (TTN) XP_016860311.1:p.Asn18701Ile
XM_017004823.1:c.37718A>T (TTN) XP_016860312.1:p.Asn12573Ile
XM_024453094.1:c.59213A>T (TTN) XP_024308862.1:p.Asn19738Ile
XM_024453095.1:c.59210A>T (TTN) XP_024308863.1:p.Asn19737Ile
XM_024453096.1:c.58643A>T (TTN) XP_024308864.1:p.Asn19548Ile
XM_024453097.1:c.55985A>T (TTN) XP_024308865.1:p.Asn18662Ile
XM_024453098.1:c.55904A>T (TTN) XP_024308866.1:p.Asn18635Ile
XM_024453099.1:c.37667A>T (TTN) XP_024308867.1:p.Asn12556Ile
XM_024453100.1:c.27521A>T (TTN) XP_024308868.1:p.Asn9174Ile