Canonical Allele Identifier: CA349600510

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178567192C>T , CM000664.2:g.178567192C>T GRCh38
NC_000002.11:g.179431919C>T , CM000664.1:g.179431919C>T GRCh37
NC_000002.10:g.179140165C>T NCBI36
NG_011618.3:g.268611G>A , LRG_391:g.268611G>A
NG_051363.1:g.49366C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.71236G>A (TTN) ENSP00000343764.6:p.Asp23746Asn
ENST00000342175.11:c.52321G>A (TTN) ENSP00000340554.6:p.Asp17441Asn
ENST00000359218.10:c.52120G>A (TTN) ENSP00000352154.5:p.Asp17374Asn
ENST00000342175.10:c.52321G>A (TTN) ENSP00000340554.6:p.Asp17441Asn
ENST00000342992.10:c.71236G>A (TTN) ENSP00000343764.6:p.Asp23746Asn
ENST00000359218.9:c.52120G>A (TTN) ENSP00000352154.5:p.Asp17374Asn
ENST00000460472.6:c.51745G>A (TTN) ENSP00000434586.1:p.Asp17249Asn
ENST00000589042.5:c.78940G>A (TTN) MANE Select ENSP00000467141.1:p.Asp26314Asn
ENST00000591111.5:c.74017G>A (TTN) ENSP00000465570.1:p.Asp24673Asn
ENST00000615779.4:c.74017G>A (TTN) ENSP00000483597.1:p.Asp24673Asn
NM_001256850.1:c.74017G>A (TTN) NP_001243779.1:p.Asp24673Asn
NM_001267550.2:c.78940G>A (TTN) MANE Select NP_001254479.2:p.Asp26314Asn
NM_003319.4:c.51745G>A (TTN) NP_003310.4:p.Asp17249Asn
NM_133378.4:c.71236G>A (TTN) NP_596869.4:p.Asp23746Asn
NM_133432.3:c.52120G>A (TTN) NP_597676.3:p.Asp17374Asn
NM_133437.4:c.52321G>A (TTN) NP_597681.4:p.Asp17441Asn
NR_038271.1:n.447-4108C>T (TTN-AS1)
NR_038272.1:n.2044-15380C>T (TTN-AS1)
XM_011511729.1:c.78037G>A (TTN) XP_011510031.1:p.Asp26013Asn
XM_011511730.1:c.51931G>A (TTN) XP_011510032.1:p.Asp17311Asn
XM_011511731.1:c.51790G>A (TTN) XP_011510033.1:p.Asp17264Asn
XM_017004819.1:c.77833G>A (TTN) XP_016860308.1:p.Asp25945Asn
XM_017004820.1:c.73231G>A (TTN) XP_016860309.1:p.Asp24411Asn
XM_017004821.1:c.73228G>A (TTN) XP_016860310.1:p.Asp24410Asn
XM_017004822.1:c.70270G>A (TTN) XP_016860311.1:p.Asp23424Asn
XM_017004823.1:c.51886G>A (TTN) XP_016860312.1:p.Asp17296Asn
XM_024453094.1:c.73381G>A (TTN) XP_024308862.1:p.Asp24461Asn
XM_024453095.1:c.73378G>A (TTN) XP_024308863.1:p.Asp24460Asn
XM_024453096.1:c.72811G>A (TTN) XP_024308864.1:p.Asp24271Asn
XM_024453097.1:c.70153G>A (TTN) XP_024308865.1:p.Asp23385Asn
XM_024453098.1:c.70072G>A (TTN) XP_024308866.1:p.Asp23358Asn
XM_024453099.1:c.51835G>A (TTN) XP_024308867.1:p.Asp17279Asn
XM_024453100.1:c.41689G>A (TTN) XP_024308868.1:p.Asp13897Asn