Canonical Allele Identifier: CA1986740

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178543448G>A , CM000664.2:g.178543448G>A GRCh38
NC_000002.11:g.179408175G>A , CM000664.1:g.179408175G>A GRCh37
NC_000002.10:g.179116421G>A NCBI36
NG_011618.3:g.292355C>T , LRG_391:g.292355C>T
NG_051363.1:g.25622G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001267550.2:c.96525C>T (TTN) MANE Select NP_001254479.2:p.Tyr32175=
ENST00000589042.5:c.96525C>T (TTN) MANE Select ENSP00000467141.1:p.Tyr32175=
NM_001256850.1:c.91602C>T (TTN) NP_001243779.1:p.Tyr30534=
NM_003319.4:c.69330C>T (TTN) NP_003310.4:p.Tyr23110=
NM_133378.4:c.88821C>T (TTN) NP_596869.4:p.Tyr29607=
NM_133432.3:c.69705C>T (TTN) NP_597676.3:p.Tyr23235=
NM_133437.4:c.69906C>T (TTN) NP_597681.4:p.Tyr23302=
NR_038271.1:n.446+19812G>A (TTN-AS1)
NR_038272.1:n.2043+1087G>A (TTN-AS1)
ENST00000342175.10:c.69906C>T (TTN) ENSP00000340554.6:p.Tyr23302=
ENST00000342175.11:c.69906C>T (TTN) ENSP00000340554.6:p.Tyr23302=
ENST00000342992.10:c.88821C>T (TTN) ENSP00000343764.6:p.Tyr29607=
ENST00000342992.11:c.88821C>T (TTN) ENSP00000343764.6:p.Tyr29607=
ENST00000359218.10:c.69705C>T (TTN) ENSP00000352154.5:p.Tyr23235=
ENST00000359218.9:c.69705C>T (TTN) ENSP00000352154.5:p.Tyr23235=
ENST00000460472.6:c.69330C>T (TTN) ENSP00000434586.1:p.Tyr23110=
ENST00000591111.5:c.91602C>T (TTN) ENSP00000465570.1:p.Tyr30534=
ENST00000615779.4:c.91602C>T (TTN) ENSP00000483597.1:p.Tyr30534=
XM_011511729.1:c.95622C>T (TTN) XP_011510031.1:p.Tyr31874=
XM_011511730.1:c.69516C>T (TTN) XP_011510032.1:p.Tyr23172=
XM_011511731.1:c.69375C>T (TTN) XP_011510033.1:p.Tyr23125=
XM_017004819.1:c.95418C>T (TTN) XP_016860308.1:p.Tyr31806=
XM_017004820.1:c.90816C>T (TTN) XP_016860309.1:p.Tyr30272=
XM_017004821.1:c.90813C>T (TTN) XP_016860310.1:p.Tyr30271=
XM_017004822.1:c.87855C>T (TTN) XP_016860311.1:p.Tyr29285=
XM_017004823.1:c.69471C>T (TTN) XP_016860312.1:p.Tyr23157=
XM_024453094.1:c.90966C>T (TTN) XP_024308862.1:p.Tyr30322=
XM_024453095.1:c.90963C>T (TTN) XP_024308863.1:p.Tyr30321=
XM_024453096.1:c.90396C>T (TTN) XP_024308864.1:p.Tyr30132=
XM_024453097.1:c.87738C>T (TTN) XP_024308865.1:p.Tyr29246=
XM_024453098.1:c.87657C>T (TTN) XP_024308866.1:p.Tyr29219=
XM_024453099.1:c.69420C>T (TTN) XP_024308867.1:p.Tyr23140=
XM_024453100.1:c.59274C>T (TTN) XP_024308868.1:p.Tyr19758=