Canonical Allele Identifier: CA178456

Linked Data

ClinVar Variation Id: 165766
dbSNP Id: rs189202799

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178556857C>T , CM000664.2:g.178556857C>T GRCh38
NC_000002.11:g.179421584C>T , CM000664.1:g.179421584C>T GRCh37
NC_000002.10:g.179129830C>T NCBI36
NG_011618.3:g.278946G>A , LRG_391:g.278946G>A
NG_051363.1:g.39031C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.80593G>A (TTN) ENSP00000343764.6:p.Asp26865Asn
ENST00000342175.11:c.61678G>A (TTN) ENSP00000340554.6:p.Asp20560Asn
ENST00000359218.10:c.61477G>A (TTN) ENSP00000352154.5:p.Asp20493Asn
ENST00000342175.10:c.61678G>A (TTN) ENSP00000340554.6:p.Asp20560Asn
ENST00000342992.10:c.80593G>A (TTN) ENSP00000343764.6:p.Asp26865Asn
ENST00000359218.9:c.61477G>A (TTN) ENSP00000352154.5:p.Asp20493Asn
ENST00000460472.6:c.61102G>A (TTN) ENSP00000434586.1:p.Asp20368Asn
ENST00000589042.5:c.88297G>A (TTN) MANE Select ENSP00000467141.1:p.Asp29433Asn
ENST00000591111.5:c.83374G>A (TTN) ENSP00000465570.1:p.Asp27792Asn
ENST00000615779.4:c.83374G>A (TTN) ENSP00000483597.1:p.Asp27792Asn
NM_001256850.1:c.83374G>A (TTN) NP_001243779.1:p.Asp27792Asn
NM_001267550.2:c.88297G>A (TTN) MANE Select NP_001254479.2:p.Asp29433Asn
NM_003319.4:c.61102G>A (TTN) NP_003310.4:p.Asp20368Asn
NM_133378.4:c.80593G>A (TTN) NP_596869.4:p.Asp26865Asn
NM_133432.3:c.61477G>A (TTN) NP_597676.3:p.Asp20493Asn
NM_133437.4:c.61678G>A (TTN) NP_597681.4:p.Asp20560Asn
NR_038271.1:n.447-14443C>T (TTN-AS1)
NR_038272.1:n.2043+14496C>T (TTN-AS1)
XM_011511729.1:c.87394G>A (TTN) XP_011510031.1:p.Asp29132Asn
XM_011511730.1:c.61288G>A (TTN) XP_011510032.1:p.Asp20430Asn
XM_011511731.1:c.61147G>A (TTN) XP_011510033.1:p.Asp20383Asn
XM_017004819.1:c.87190G>A (TTN) XP_016860308.1:p.Asp29064Asn
XM_017004820.1:c.82588G>A (TTN) XP_016860309.1:p.Asp27530Asn
XM_017004821.1:c.82585G>A (TTN) XP_016860310.1:p.Asp27529Asn
XM_017004822.1:c.79627G>A (TTN) XP_016860311.1:p.Asp26543Asn
XM_017004823.1:c.61243G>A (TTN) XP_016860312.1:p.Asp20415Asn
XM_024453094.1:c.82738G>A (TTN) XP_024308862.1:p.Asp27580Asn
XM_024453095.1:c.82735G>A (TTN) XP_024308863.1:p.Asp27579Asn
XM_024453096.1:c.82168G>A (TTN) XP_024308864.1:p.Asp27390Asn
XM_024453097.1:c.79510G>A (TTN) XP_024308865.1:p.Asp26504Asn
XM_024453098.1:c.79429G>A (TTN) XP_024308866.1:p.Asp26477Asn
XM_024453099.1:c.61192G>A (TTN) XP_024308867.1:p.Asp20398Asn
XM_024453100.1:c.51046G>A (TTN) XP_024308868.1:p.Asp17016Asn