Canonical Allele Identifier: CA349535619

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178557803A>T , CM000664.2:g.178557803A>T GRCh38
NC_000002.11:g.179422530A>T , CM000664.1:g.179422530A>T GRCh37
NC_000002.10:g.179130776A>T NCBI36
NG_011618.3:g.278000T>A , LRG_391:g.278000T>A
NG_051363.1:g.39977A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000342992.11:c.79847T>A (TTN) ENSP00000343764.6:p.Val26616Glu
ENST00000342175.11:c.60932T>A (TTN) ENSP00000340554.6:p.Val20311Glu
ENST00000359218.10:c.60731T>A (TTN) ENSP00000352154.5:p.Val20244Glu
ENST00000342175.10:c.60932T>A (TTN) ENSP00000340554.6:p.Val20311Glu
ENST00000342992.10:c.79847T>A (TTN) ENSP00000343764.6:p.Val26616Glu
ENST00000359218.9:c.60731T>A (TTN) ENSP00000352154.5:p.Val20244Glu
ENST00000460472.6:c.60356T>A (TTN) ENSP00000434586.1:p.Val20119Glu
ENST00000589042.5:c.87551T>A (TTN) MANE Select ENSP00000467141.1:p.Val29184Glu
ENST00000591111.5:c.82628T>A (TTN) ENSP00000465570.1:p.Val27543Glu
ENST00000615779.4:c.82628T>A (TTN) ENSP00000483597.1:p.Val27543Glu
NM_001256850.1:c.82628T>A (TTN) NP_001243779.1:p.Val27543Glu
NM_001267550.2:c.87551T>A (TTN) MANE Select NP_001254479.2:p.Val29184Glu
NM_003319.4:c.60356T>A (TTN) NP_003310.4:p.Val20119Glu
NM_133378.4:c.79847T>A (TTN) NP_596869.4:p.Val26616Glu
NM_133432.3:c.60731T>A (TTN) NP_597676.3:p.Val20244Glu
NM_133437.4:c.60932T>A (TTN) NP_597681.4:p.Val20311Glu
NR_038271.1:n.447-13497A>T (TTN-AS1)
NR_038272.1:n.2043+15442A>T (TTN-AS1)
XM_011511729.1:c.86648T>A (TTN) XP_011510031.1:p.Val28883Glu
XM_011511730.1:c.60542T>A (TTN) XP_011510032.1:p.Val20181Glu
XM_011511731.1:c.60401T>A (TTN) XP_011510033.1:p.Val20134Glu
XM_017004819.1:c.86444T>A (TTN) XP_016860308.1:p.Val28815Glu
XM_017004820.1:c.81842T>A (TTN) XP_016860309.1:p.Val27281Glu
XM_017004821.1:c.81839T>A (TTN) XP_016860310.1:p.Val27280Glu
XM_017004822.1:c.78881T>A (TTN) XP_016860311.1:p.Val26294Glu
XM_017004823.1:c.60497T>A (TTN) XP_016860312.1:p.Val20166Glu
XM_024453094.1:c.81992T>A (TTN) XP_024308862.1:p.Val27331Glu
XM_024453095.1:c.81989T>A (TTN) XP_024308863.1:p.Val27330Glu
XM_024453096.1:c.81422T>A (TTN) XP_024308864.1:p.Val27141Glu
XM_024453097.1:c.78764T>A (TTN) XP_024308865.1:p.Val26255Glu
XM_024453098.1:c.78683T>A (TTN) XP_024308866.1:p.Val26228Glu
XM_024453099.1:c.60446T>A (TTN) XP_024308867.1:p.Val20149Glu
XM_024453100.1:c.50300T>A (TTN) XP_024308868.1:p.Val16767Glu