Canonical Allele Identifier: CA179371
Gene: TTN HGNC NCBI

Linked Data

ClinVar Variation Id: 166330
ClinVar RCV Id: RCV000152516
dbSNP Id: rs368967197

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178781199C>T , CM000664.2:g.178781199C>T GRCh38
NC_000002.11:g.179645926C>T , CM000664.1:g.179645926C>T GRCh37
NC_000002.10:g.179354171C>T NCBI36
NG_011618.3:g.54604G>A , LRG_391:g.54604G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000342175.11:n.3307G>A ENSP00000340554.6:p.Asp1103Asn
ENST00000359218.10:n.3307G>A ENSP00000352154.5:p.Asp1103Asn
ENST00000360870.10:c.3445G>A MANE Plus Clinical ENSP00000354117.4:p.Asp1149Asn
ENST00000342175.10:c.3307G>A ENSP00000340554.6:p.Asp1103Asn
ENST00000342992.10:c.3445G>A ENSP00000343764.6:p.Asp1149Asn
ENST00000359218.9:c.3307G>A ENSP00000352154.5:p.Asp1103Asn
ENST00000360870.9:c.3445G>A ENSP00000354117.4:p.Asp1149Asn
ENST00000460472.6:c.3307G>A ENSP00000434586.1:p.Asp1103Asn
ENST00000589042.5:c.3445G>A MANE Select ENSP00000467141.1:p.Asp1149Asn
ENST00000591111.5:c.3445G>A ENSP00000465570.1:p.Asp1149Asn
ENST00000615779.4:c.3445G>A ENSP00000483597.1:p.Asp1149Asn
NM_001256850.1:c.3445G>A NP_001243779.1:p.Asp1149Asn
NM_001267550.2:c.3445G>A MANE Select NP_001254479.2:p.Asp1149Asn
NM_003319.4:c.3307G>A NP_003310.4:p.Asp1103Asn
NM_133378.4:c.3445G>A NP_596869.4:p.Asp1149Asn
NM_133379.4:c.3445G>A , LRG_391t2:c.3445G>A NP_596870.2:p.Asp1149Asn
NM_133432.3:c.3307G>A NP_597676.3:p.Asp1103Asn
NM_133437.4:c.3307G>A NP_597681.4:p.Asp1103Asn
XM_011511729.1:c.3493G>A XP_011510031.1:p.Asp1165Asn
XM_011511730.1:c.3493G>A XP_011510032.1:p.Asp1165Asn
XM_011511731.1:c.3352G>A XP_011510033.1:p.Asp1118Asn
XM_011511732.1:c.3490G>A XP_011510034.1:p.Asp1164Asn
XM_017004819.1:c.3448G>A XP_016860308.1:p.Asp1150Asn
XM_017004820.1:c.3448G>A XP_016860309.1:p.Asp1150Asn
XM_017004821.1:c.3445G>A XP_016860310.1:p.Asp1149Asn
XM_017004822.1:c.3448G>A XP_016860311.1:p.Asp1150Asn
XM_017004823.1:c.3448G>A XP_016860312.1:p.Asp1150Asn
XM_024453094.1:c.3448G>A XP_024308862.1:p.Asp1150Asn
XM_024453095.1:c.3448G>A XP_024308863.1:p.Asp1150Asn
XM_024453096.1:c.3448G>A XP_024308864.1:p.Asp1150Asn
XM_024453097.1:c.3448G>A XP_024308865.1:p.Asp1150Asn
XM_024453098.1:c.3448G>A XP_024308866.1:p.Asp1150Asn
XM_024453099.1:c.3448G>A XP_024308867.1:p.Asp1150Asn
NM_133379.5:c.3445G>A MANE Plus Clinical NP_596870.2:p.Asp1149Asn