Canonical Allele Identifier: CA349411769

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178532194T>A , CM000664.2:g.178532194T>A GRCh38
NC_000002.11:g.179396921T>A , CM000664.1:g.179396921T>A GRCh37
NC_000002.10:g.179105167T>A NCBI36
NG_011618.3:g.303609A>T , LRG_391:g.303609A>T
NG_051363.1:g.14368T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.96717A>T (TTN) ENSP00000343764.6:p.Arg32239Ser
ENST00000342175.11:c.77802A>T (TTN) ENSP00000340554.6:p.Arg25934Ser
ENST00000359218.10:c.77601A>T (TTN) ENSP00000352154.5:p.Arg25867Ser
ENST00000342175.10:c.77802A>T (TTN) ENSP00000340554.6:p.Arg25934Ser
ENST00000342992.10:c.96717A>T (TTN) ENSP00000343764.6:p.Arg32239Ser
ENST00000359218.9:c.77601A>T (TTN) ENSP00000352154.5:p.Arg25867Ser
ENST00000460472.6:c.77226A>T (TTN) ENSP00000434586.1:p.Arg25742Ser
ENST00000589042.5:c.104421A>T (TTN) MANE Select ENSP00000467141.1:p.Arg34807Ser
ENST00000591111.5:c.99498A>T (TTN) ENSP00000465570.1:p.Arg33166Ser
ENST00000615779.4:c.99498A>T (TTN) ENSP00000483597.1:p.Arg33166Ser
NM_001256850.1:c.99498A>T (TTN) NP_001243779.1:p.Arg33166Ser
NM_001267550.2:c.104421A>T (TTN) MANE Select NP_001254479.2:p.Arg34807Ser
NM_003319.4:c.77226A>T (TTN) NP_003310.4:p.Arg25742Ser
NM_133378.4:c.96717A>T (TTN) NP_596869.4:p.Arg32239Ser
NM_133432.3:c.77601A>T (TTN) NP_597676.3:p.Arg25867Ser
NM_133437.4:c.77802A>T (TTN) NP_597681.4:p.Arg25934Ser
NR_038271.1:n.446+8558T>A (TTN-AS1)
NR_038272.1:n.220-3538T>A (TTN-AS1)
XM_011511729.1:c.103518A>T (TTN) XP_011510031.1:p.Arg34506Ser
XM_011511730.1:c.77412A>T (TTN) XP_011510032.1:p.Arg25804Ser
XM_011511731.1:c.77271A>T (TTN) XP_011510033.1:p.Arg25757Ser
XM_017004819.1:c.103314A>T (TTN) XP_016860308.1:p.Arg34438Ser
XM_017004820.1:c.98712A>T (TTN) XP_016860309.1:p.Arg32904Ser
XM_017004821.1:c.98709A>T (TTN) XP_016860310.1:p.Arg32903Ser
XM_017004822.1:c.95751A>T (TTN) XP_016860311.1:p.Arg31917Ser
XM_017004823.1:c.77367A>T (TTN) XP_016860312.1:p.Arg25789Ser
XM_024453094.1:c.98862A>T (TTN) XP_024308862.1:p.Arg32954Ser
XM_024453095.1:c.98859A>T (TTN) XP_024308863.1:p.Arg32953Ser
XM_024453096.1:c.98292A>T (TTN) XP_024308864.1:p.Arg32764Ser
XM_024453097.1:c.95634A>T (TTN) XP_024308865.1:p.Arg31878Ser
XM_024453098.1:c.95553A>T (TTN) XP_024308866.1:p.Arg31851Ser
XM_024453099.1:c.77316A>T (TTN) XP_024308867.1:p.Arg25772Ser
XM_024453100.1:c.67170A>T (TTN) XP_024308868.1:p.Arg22390Ser